Jouni Uitto

Title	Assoc Prof CHP
Institution	Thomas Jefferson University
Department	Nursing - Undergraduate
Address	233 S. 10th Street Philadelphia PA 19107
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Bibliographic

selected publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.

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Ross CL, Li Q, Uitto J, Keller MS, Ross NA. Iatrogenic Hypertriglyceridemia when Treating Pityriasis Rubra Pilaris: An algorithm for Monitoring and Treatment during Retinoid Therapy. Skinmed. 2024; 22(5):402-403. PMID: 39433533.

Citations:
Youssefian L, Saeidian AH, Saffarian Z, Ariamanesh M, Abdollahimajd F, Molkara S, Shahidi-Dadras M, Diab R, Vahidnezhad F, Zeinali S, B?ziat V, Jouanguy E, Casanova JL, Uitto J, Vahidnezhad H. Whole-Transcriptome Sequencing-Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency. JID Innov. 2024 Jul; 4(4):100278. PMID: 38994235.

Citations:
Hozhabrpour A, Mojbafan M, Palizban F, Vahidnezhad F, Talebi S, Amani M, Garshasbi M, Naghavi A, Khalesi R, Mansouri P, Sotoudeh S, Mahmoudi H, Varghaei A, Daneshpazhooh M, Karimi F, Zeinali S, Kalamati E, Uitto J, Youssefian L, Vahidnezhad H. DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity. DNA Repair (Amst). 2024 Feb 28; 136:103633. PMID: 38422792.

Citations:
Ralph D, Levine M, Mill?n JL, Uitto J, Li Q. Weighing the evidence for the roles of plasma versus local pyrophosphate in ectopic calcification disorders. J Bone Miner Res. 2023 Feb 20. PMID: 36807615.

Citations:
Saeidian AH, Youssefian L, Naji M, Mahmoudi H, Barnada SM, Huang CY, Naghipoor K, Hozhabrpour A, Park JS, Manzo Margiotta F, Vahidnezhad F, Saffarian Z, Kamyab-Hesari K, Tolouei M, Faraji N, Azimi SZ, Namdari G, Mansouri P, Casanova JL, B?ziat V, Jouanguy E, Uitto J, Vahidnezhad H. Whole-transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals a-, ?- and ?-HPV infections. JCI Insight. 2023 Jan 05. PMID: 36602881.

Citations:
Cohen AJ, Nikbakht N, Uitto J. Keloid Disorder: Genetic Basis, Gene Expression Profiles, and Immunological Modulation of the Fibrotic Processes in the Skin. Cold Spring Harb Perspect Biol. 2022 Nov 21. PMID: 36411063.

Citations:
Cohen AJ, Talasila S, Lazarevic B, Banner L, Gleason L, Malkani K, Uitto J, Nikbakht N. Combination cryotherapy and intralesional corticosteroid versus steroid monotherapy in the treatment of keloids. J Cosmet Dermatol. 2022 Nov 21. PMID: 36409313.

Citations:
Szeri F, Miko A, Navasiolava N, Kaposi A, Verschuere S, Molnar B, Li Q, Terry SF, Boraldi F, Uitto J, van de Wetering K, Martin L, Quaglino D, Vanakker OM, Tory K, Aranyi T. The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals. Hum Mutat. 2022 12; 43(12):1872-1881. PMID: 36317459.

Citations:
Ogishi M, Yang R, Rodriguez R, Golec DP, Martin E, Philippot Q, Bohlen J, Pelham SJ, Arias AA, Khan T, Ata M, Al Ali F, Rozenberg F, Kong XF, Chrabieh M, Laine C, Lei WT, Han JE, Seeleuthner Y, Kaul Z, Jouanguy E, B?ziat V, Youssefian L, Vahidnezhad H, Rao VK, Neven B, Fieschi C, Mansouri D, Shahrooei M, Pekcan S, Alkan G, Emiroglu M, Tokg?z H, Uitto J, Hauck F, Bustamante J, Abel L, Keles S, Parvaneh N, Marr N, Schwartzberg PL, Latour S, Casanova JL, Boisson-Dupuis S. Inherited human ITK deficiency impairs IFN-? immunity and underlies tuberculosis. J Exp Med. 2023 Jan 02; 220(1). PMID: 36326697.

Citations:
Park JS, Saeidian AH, Youssefian L, Hsu S, Vahidnezhad H, Uitto J. Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations. J Eur Acad Dermatol Venereol. 2023 Jan; 37(1):47-56. PMID: 36165597.

Citations:
Nashan D, Uitto J, R?cken M, Eyerich K. Laudatio zum 70. Geburtstag von Frau Prof.?Dr.?med.?Dr.?h.c.?Leena Bruckner-Tuderman. J Dtsch Dermatol Ges. 2022 10; 20(10):1405-1406. PMID: 36252059.

Citations:
Park JS, Saeidian AH, Youssefian L, Kondratuk KE, Pride HB, Vahidnezhad H, Uitto J. Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management. J Am Acad Dermatol. 2022 Aug 10. PMID: 35963288.

Citations:
Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J. Mutation Update: The Spectra of PLEC Sequence Variants and Related Plectinopathies. Hum Mutat. 2022 Jul 11. PMID: 35815343.

Citations:
Alexeev V, Huitema L, Phillips T, Cepeda R, de Los Cobos D, Perez RIM, Salas-Garza M, Fajardo-Ramirez OR, Ringpfeil F, Uitto J, Salas-Alanis JC, Igoucheva O. T-cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients. Exp Dermatol. 2022 May 27. PMID: 35620886.

Citations:
Jacobs IJ, Cheng Z, Ralph D, O'Brien K, Flaman L, Howe J, Thompson D, Uitto J, Li Q, Sabbagh Y. INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum. Exp Dermatol. 2022 May 05. PMID: 35511611.

Citations:
Harvey N, Youssefian L, Saeidian AH, Vahidnezhad H, Uitto J. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins. Matrix Biol. 2022 Apr 30. PMID: 35504439.

Citations:
Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022 04; 18(4):e1010192. PMID: 35482848.

Citations:
Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma. Hum Mutat. 2022 Apr 27. PMID: 35475527.

Citations:
Saeidian AH, Youssefian L, Huang CY, Palizban F, Naji M, Saffarian Z, Mahmoudi H, Goodarzi A, Sotoudeh S, Vahidnezhad F, Amani M, Tavakoli N, Ajami A, Mozafarpoor S, Teimoorian M, Dorgaleleh S, Shokri S, Shenagari M, Abedi N, Zeinali S, Fortina P, Béziat V, Jouanguy E, Casanova JL, Uitto J, Vahidnezhad H. Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI Insight. 2022 Apr 22; 7(8). PMID: 35316210.

Citations:
Pourani MR, Vahidnezhad H, Mansouri P, Youssefian L, Rakhshan A, Hajimoradi B, Abdollahimajd F, Uitto J. Losartan treatment improves recessive dystrophic epidermolysis bullosa: A case series. Dermatol Ther. 2022 Apr 14; e15515. PMID: 35420725.

Citations:
Youssefian L, Naji M, Park JS, Rajabi F, Abdollahimajd F, Mahmoudi H, Kamyab-Hesari K, Ghalamkarpour F, Zabihi M, Teimoorian M, Youssefian L, Zeinali S, Vahidnezhad H, Uitto J. Ichthyosis follicularis syndromes in patients with germline mutations in GJB2. Clin Exp Dermatol. 2022 Apr 09. PMID: 35396755.

Citations:
Li Q, Terry SF, Uitto J. Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis. J Dermatol. 2022 Mar 22. PMID: 35318717.

Citations:
Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L, Vahidnezhad H, Uitto J. Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). Exp Dermatol. 2022 Mar 11. PMID: 35276021.

Citations:
Youssefian L, Saeidian AH, Tavasoli AR, Kalamati E, Naghipoor K, Hozhabrpour A, Mesdaghi M, Saffarian Z, Mahmoudi H, Nabavi M, Shokri S, Zeinali S, Béziat V, Casanova JL, Jouanguy E, Uitto J, Vahidnezhad H. Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency. J Invest Dermatol. 2022 Mar 08. PMID: 35276224.

Citations:
Mohaghegh F, Youssefian L, Galehdari H, Tavakoli N, Vahidnezhad H, Uitto J. Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. Exp Dermatol. 2022 Mar 05. PMID: 35246884.

Citations:
Ralph D, van de Wetering K, Uitto J, Li Q. Inorganic Pyrophosphate Deficiency Syndromes and Potential Treatments for Pathologic Tissue Calcification. Am J Pathol. 2022 Feb 16. PMID: 35182493.

Citations:
Huang J, Ralph D, Boraldi F, Quaglino D, Uitto J, Li Q. Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum. J Invest Dermatol. 2022 Feb 07. PMID: 35143822.

Citations:
Dasgeb B, Pajouhanfar S, Jazayeri A, Schoenberg E, Kumar G, Fortina P, Berger AC, Uitto J. Novel PTCH1 and concurrent TP53 mutations in four patients with numerous non-syndromic basal cell carcinomas: The paradigm of oncogenic synergy. Exp Dermatol. 2021 Dec 04. PMID: 34862824.

Citations:
Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort. Genet Med. 2022 Jan; 24(1):75-86. PMID: 34906475.

Citations:
Uitto J, Saeidian AH, Youssefian L, Saffarian Z, Casanova JL, Béziat V, Jouanguy E, Vahidnezhad H. Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes. J Invest Dermatol. 2021 Nov 27. PMID: 34843682.

Citations:
Kozák E, Fülöp K, Tokési N, Rao N, Li Q, Terry SF, Uitto J, Zhang X, Becker C, Váradi A, Pomozi V. Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum. Exp Dermatol. 2021 Nov 10. PMID: 34758173.

Citations:
Vahidnezhad H, Youssefian L, Anbardar MH, Zeinali S, Farahani RA, Uitto J. Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the a6 Integrin Gene (ITGA6). Inflamm Bowel Dis. 2021 Oct 20; 27(11):1865-1869. PMID: 34525201.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Ziaee V, Mahmoudi H, Parvaneh N, Ashjaei B, Shahrokh S, Kamyab Hesari K, Soltani Zangbar M, Yousefi M, Zeinali S, Uitto J. Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance. JAMA Dermatol. 2021 Oct 13. PMID: 34643647.

Citations:
Kowal L, Huang J, Luo H, Singh J, Snook AE, Uitto J, Li Q. Functional Assessment of Missense Variants in the ABCC6 gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder. J Invest Dermatol. 2021 Sep 28. PMID: 34597610.

Citations:
Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jacków J, Christiano AM, Uitto J, Fajardo-Ramírez ÓR, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. Am J Med Genet A. 2021 Nov; 185(11):3390-3400. PMID: 34435747.

Citations:
Jaminon AMG, Akbulut AC, Rapp N, Kramann R, Biessen EAL, Temmerman L, Mees B, Brandenburg V, Dzhanaev R, Jahnen-Dechent W, Floege J, Uitto J, Reutelingsperger CP, Schurgers LJ. Development of the BioHybrid Assay: Combining Primary Human Vascular Smooth Muscle Cells and Blood to Measure Vascular Calcification Propensity. Cells. 2021 Aug 16; 10(8). PMID: 34440866.

Citations:
Béziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet É, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot É, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Prétet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 Jul 08; 184(14):3812-3828.e30. PMID: 34214472.

Citations:
Shams F, Rahimpour A, Vahidnezhad H, Hosseinzadeh S, Moravvej H, Kazemi B, Rajabibazl M, Abdollahimajd F, Uitto J. The utility of dermal fibroblasts in treatment of skin disorders: A paradigm of recessive dystrophic epidermolysis bullosa. Dermatol Ther. 2021 07; 34(4):e15028. PMID: 34145697.

Citations:
Uitto J, Saeidian AH, Youssefian L, Vahidnezhad H. Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians. J Am Acad Dermatol. 2021 Jun 09. PMID: 34118299.

Citations:
Dasgeb B, Leila Y, Saeidian AH, Kang J, Shi W, Shoenberg E, Ertel A, Fortina P, Vahidnezhad H, Uitto J. Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy. Int J Dermatol Venereol. 2021 Jun; 4(2):70-75. PMID: 34278326.

Citations:
Youssefian L, Saeidian AH, Palizban F, Bagherieh A, Abdollahimajd F, Sotoudeh S, Mozafari N, Farahani RA, Mahmoudi H, Babashah S, Zabihi M, Zeinali S, Fortina P, Salas-Alanis JC, South AP, Vahidnezhad H, Uitto J. Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity. Clin Chem. 2021 Jun 01; 67(6):876-888. PMID: 33969388.

Citations:
Kinyó Á, Kovács AL, Degrell P, Kálmán E, Nagy N, Kárpáti S, Gyulai R, Saeidian AH, Youssefian L, Vahidnezhad H, Uitto J. Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement. J Invest Dermatol. 2021 Nov; 141(11):2752-2756. PMID: 34023363.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biol. 2021 05; 99:43-57. PMID: 34004352.

Citations:
Jacobs IJ, Li D, Ivarsson ME, Uitto J, Li Q. A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6-/- mouse model of pseudoxanthoma elasticum. Exp Dermatol. 2021 Feb 01. PMID: 33523493.

Citations:
Youssefian L, Niaziorimi F, Saeidian AH, South A, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J. Knock-Down of SDR9C7 Impairs Epidermal Barrier Function. J Invest Dermatol. 2021 Jan 07. PMID: 33422619.

Citations:
Luo H, Li Q, Cao Y, Uitto J. Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020. J Clin Med. 2020 Dec 31; 10(1). PMID: 33396306.

Citations:
Macarak EJ, Wermuth PJ, Rosenbloom J, Uitto J. Keloid disorder: Fibroblast differentiation and gene expression profile in fibrotic skin diseases. Exp Dermatol. 2021 Jan; 30(1):132-145. PMID: 33211348.

Citations:
Luo H, Faghankhani M, Cao Y, Uitto J, Li Q. Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder. J Invest Dermatol. 2020 Dec 16. PMID: 33341249.

Citations:
Vahidnezhad H, Youssefian L, Faghankhani M, Mozafari N, Saeidian AH, Niaziorimi F, Abdollahimajd F, Sotoudeh S, Rajabi F, Mirsafaei L, Sani ZA, Liu L, Guy A, Zeinali S, Kariminejad A, Ho RT, McGrath JA, Uitto J. Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. Sci Rep. 2020 12 10; 10(1):21622. PMID: 33303784.

Citations:
Uitto J, Vahidnezhad H. Losartan for treatment of epidermolysis bullosa: A new perspective. Dermatol Ther. 2020 Dec 05; e14638. PMID: 33278060.

Citations:
Ralph D, Allawh R, Terry IF, Terry SF, Uitto J, Li Q. Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder. Int J Dermatol Venereol. 2020 Dec; 3(4):198-204. PMID: 34925949.

Citations:
Asgari T, Naji M, Mansouri P, Mahmoudi H, Zabihi M, Youssefian L, Mahdavi M, Naraghi ZS, Zeinali S, Vahidnezhad H, Uitto J. Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation. Dermatol Ther. 2020 Nov; 33(6):e14493. PMID: 33136289.

Citations:
Atazadeh F, Fazeli Z, Vahidnezhad H, Namazi N, Younespour S, Youssefian L, Abdollahimajd F, Uitto J. Increased level of cathelicidin (LL-37) in vitiligo: Possible pathway independent from vitamin D receptor gene polymorphism. Exp Dermatol. 2020 Dec; 29(12):1176-1185. PMID: 32997837.

Citations:
Behrangi E, Sadeghzadeh-Bazargan A, Khosravi S, Shemshadi M, Youssefian L, Vahidnezhad H, Goodarzi A, Uitto J. Mycophenolate mofetil treatment of an H syndrome patient with a SLC29A3 mutation. Dermatol Ther. 2020 Nov; 33(6):e14375. PMID: 33029882.

Citations:
Phillips T, Huitema L, Cepeda R, Cobos DL, Perez RIM, Garza MS, Ringpfeil F, Dasgeb B, Uitto J, Salas-Alanis JC, Alexeev V, Igoucheva O. Aberrant recruitment of leukocytes defines poor wound healing in patients with recessive dystrophic epidermolysis bullosa. J Dermatol Sci. 2020 Dec; 100(3):209-216. PMID: 33143962.

Citations:
Abdollahimajd F, Youssefian L, Pourani MR, Vahidnezhad H, Uitto J. Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases. Dermatol Ther. 2020 Aug 14; e14194. PMID: 32794270.

Citations:
Murrell DF, Lucky AW, Salas-Alanis JC, Woodley DT, Palisson F, Natsuga K, Nikolic M, Ramirez-Quizon M, Paller AS, Lara-Corrales I, Barzegar MA, Sprecher E, Has C, Laimer M, Bruckner AL, Bilgic A, Nanda A, Purvis D, Hovnanian A, Murat-Sušic S, Bauer J, Kern JS, Bodemer C, Martin LK, Mellerio J, Kowaleski C, Robertson SJ, Bruckner-Tuderman L, Pope E, Marinkovich MP, Tang JY, Su J, Uitto J, Eichenfield LF, Teng J, Aan Koh MJ, Lee SE, Khuu P, Rishel HI, Sommerlund M, Wiss K, Hsu CK, Chiu TW, Martinez AE. Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-consensus: Recommendations by an international panel of experts. J Am Acad Dermatol. 2020 Jul 16. PMID: 32682031.

Citations:
Saeidian AH, Youssefian L, Vahidnezhad H, Uitto J. Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders. J Invest Dermatol. 2020 Jun; 140(6):1117-1126.e1. PMID: 32446329.

Citations:
Mellerio JE, Uitto J. Meeting Report: The First Global Congress on Epidermolysis Bullosa, EB2020 London - Toward Treatment and Cure. J Invest Dermatol. 2020 May 16. PMID: 32428541.

Citations:
Zhao JY, Kingman J, Jacobs IJ, Uitto J, Cao Y, Li QL. Atherogenic Diet Accelerates Ectopic Mineralization in a Mouse Model of Pseudoxanthoma Elasticum. Int J Dermatol Venereol. 2020 Jun; 3(2):91-96. PMID: 32923017.

Citations:
Touati A, Saeidian AH, Youssefian L, Faghankhani M, Niaziorimi F, Pajouhanfar S, Vahidnezhad H, Uitto J. The matriptase-prostasin proteolytic cascade in dermatologic diseases. Exp Dermatol. 2020 Apr 29. PMID: 32347581.

Citations:
Has C, South A, Uitto J. Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020. Mol Diagn Ther. 2020 Apr 23. PMID: 32328988.

Citations:
Saeidian AH, Cohen-Nowak A, O'Donnell M, Shalabi D, McGuinn KP, Youssefian L, Vahidnezhad H, Niaziorimi F, Dasgeb B, Lee JB, Uitto J, Nikbakht N. Linear basal cell nevus with a novel mosaic PTCH1 mutation. Exp Dermatol. 2020 Apr 16. PMID: 32298489.

Citations:
Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H. Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis. Acta Derm Venereol. 2020 Mar 25; 100(7):adv00095. PMID: 32147742.

Citations:
Ziaee V, Youssefian L, Faghankhani M, Jazayeri A, Saeidian AH, Vahidnezhad H, Uitto J. Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA). J Clin Immunol. 2020 Mar 13. PMID: 32170523.

Citations:
Bagheri Hamidi A, Namazi N, Mohammad Amoli M, Amani M, Gholami M, Youssefian L, Vahidnezhad H, Abdollahimajd F, Uitto J. Association of MTHFR C677T polymorphism with elevated homocysteine level and disease development in vitiligo. Int J Immunogenet. 2020 Feb 16. PMID: 32064757.

Citations:
Vahidnezhad H, Youssefian L, Sotoudeh S, Liu L, Guy A, Lovell PA, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica. Hum Mutat. 2020 Jan 12. PMID: 31930626.

Citations:
Uitto J, Lu Q, Wang G. Meeting Report of the 4th Annual Meeting of the Chinese Society for Investigative Dermatology: Reflections on the Rise of Cutaneous Biology Research in China. J Invest Dermatol. 2019 Dec 17. PMID: 31862384.

Citations:
Uitto J. Toward treatment and cure of epidermolysis bullosa. Proc Natl Acad Sci U S A. 2019 Dec 11. PMID: 31826952.

Citations:
Mokhtarzadeh A, Vahidnezhad H, Youssefian L, Mosafer J, Baradaran B, Uitto J. Applications of Spherical Nucleic Acid Nanoparticles as Delivery Systems. Trends Mol Med. 2019 Nov 05. PMID: 31703931.

Citations:
Uitto J, Tirgan M. Meeting Report: Clinical Challenge and Call for Research on Keloid Disorder The 3rd International Keloid Research Foundation Symposium, Beijing 2019. J Invest Dermatol. 2019 Oct 16. PMID: 31628928.

Citations:
Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Mol Genet Genomic Med. 2019 Sep 27; e975. PMID: 31560841.

Citations:
Guerrero-Aspizua S, Conti CJ, Escamez MJ, Castiglia D, Zambruno G, Youssefian L, Vahidnezhad H, Requena L, Itin P, Tadini G, Yordanova I, Martin L, Uitto J, Has C, Del Rio M. Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. Orphanet J Rare Dis. 2019 Jul 24; 14(1):183. PMID: 31340837.

Citations:
Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, Schneider H, Guy A, Liu L, McGrath JA, Has C, Uitto J. Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out". Matrix Biol. 2019 Jul 11. PMID: 31302245.

Citations:
Li Q, Philip VM, Stearns TM, Bubier JA, King BL, Low BE, Wiles MV, Saeidian AH, Sundberg BA, Uitto J, Sundberg JP. Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. J Invest Dermatol. 2019 Jun 15. PMID: 31207231.

Citations:
Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC. Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants. Am J Med Genet A. 2019 Aug; 179(8):1547-1555. PMID: 31184804.

Citations:
Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA, Peris K, Colombo R, Uitto J. Inherited nonalcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. J Hepatol. 2019 Apr 04. PMID: 30954460.

Citations:
Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J. Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. Clin Infect Dis. 2019 Feb 19. PMID: 30778533.

Citations:
Uitto J. Genetic Susceptibility to Alopecia. N Engl J Med. 2019 Feb 13. PMID: 30763143.

Citations:
Li Q, Uitto J. Reply to van Gils and Vanakker. J Invest Dermatol. 2019 Jan 17. PMID: 30660667.

Citations:
Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019 Mar; 40(3):288-298. PMID: 30578701.

Citations:
Huang J, Snook AE, Uitto J, Li Q. Adenovirus-mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders. J Invest Dermatol. 2019 Jan 10. PMID: 30639429.

Citations:
Moore-Lotridge SN, Li Q, Gibson BHY, Martin JT, Hawley GD, Arnold TH, Saito M, Tannouri S, Schwartz HS, Gumina RJ, Cates JMM, Uitto J, Schoenecker JG. Trauma-Induced Nanohydroxyapatite Deposition in Skeletal Muscle is Sufficient to Drive Heterotopic Ossification. Calcif Tissue Int. 2018 Dec 04. PMID: 30515544.

Citations:
Li Q, Uitto J. Heritable Ectopic Mineralization Disorders: Pathomechanisms and Potential Treatment. J Investig Dermatol Symp Proc. 2018 Dec; 19(2):S106-S107. PMID: 30471751.

Citations:
Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Hum Mutat. 2019 Feb; 40(2):217-229. PMID: 30431684.

Citations:
Uitto J, Atanasova VS, Jiang Q, South AP. Precision Medicine for Heritable Skin Diseases-The Paradigm of Epidermolysis Bullosa. J Investig Dermatol Symp Proc. 2018 Dec; 19(2):S74-S76. PMID: 30471755.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Mansoori B, Jazayeri A, Azizpour A, Hesari KK, Yousefi M, Zeinali S, Jouanguy E, Casanova JL, Uitto J. A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis. J Invest Dermatol. 2018 Nov 29. PMID: 30503243.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biol. 2018 Nov 18. PMID: 30463024.

Citations:
Li Q, van de Wetering K, Uitto J. Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development. Am J Pathol. 2019 Feb; 189(2):216-225. PMID: 30414410.

Citations:
Li Q, Uitto J. Zebrafish Models of Ectopic Mineralization-The Paradigm of Pseudoxanthoma Elasticum. J Invest Dermatol. 2018 Nov; 138(11):2301-2304. PMID: 30348334.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J. Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders. J Invest Dermatol. 2018 Oct 28. PMID: 30393082.

Citations:
Salas-Alanis JC, Cepeda-Valdes R, Fortuna G, Li Q, Uitto J. Pseudoxanthoma elasticum: Dermoscopy and mutation analysis. Australas J Dermatol. 2018 Sep 19. PMID: 30229859.

Citations:
Vahidnezhad H, Youssefian L, Jazayeri A, Uitto J. Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases. J Invest Dermatol. 2018 Sep; 138(9):1893-1900. PMID: 30143075.

Citations:
Li Q, Huang J, Pinkerton AB, Millan JL, van Zelst BD, Levine MA, Sundberg JP, Uitto J. Inhibition of Tissue-Nonspecific Alkaline Phosphatase Attenuates Ectopic Mineralization in the Abcc6-/- Mouse Model of PXE but not in the Enpp1 Mutant Mouse Models of GACI. J Invest Dermatol. 2018 Aug 18. PMID: 30130617.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018 Oct; 39(10):1349-1354. PMID: 30016581.

Citations:
de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to ß-papillomaviruses. J Exp Med. 2018 Sep 03; 215(9):2289-2310. PMID: 30068544.

Citations:
Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab Hesari K, Zeinali S, de Jong SJ, Orth G, Blanchet-Bardon C, Jouanguy E, Casanova JL, Uitto J. Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. J Invest Dermatol. 2018 Jul 20. PMID: 30036492.

Citations:
Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/- ). Oncotarget. 2018 Jul 20; 9(56):30721-30730. PMID: 30112102.

Citations:
Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E. Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. J Invest Dermatol. 2018 Jun 26. PMID: 29758285.

Citations:
de Jong SJ, Imahorn E, Itin P, Uitto J, Orth G, Jouanguy E, Casanova JL, Burger B. Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses. Front Microbiol. 2018; 9:1222. PMID: 29946305.

Citations:
Youssefian L, Vahidnezhad H, Touati A, Ziaee V, Saeidian AH, Pajouhanfar S, Zeinali S, Uitto J. The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. BMC Med Genet. 2018 May 25; 19(1):87. PMID: 29801470.

Citations:
Has C, Nyström A, Saeidian AH, Bruckner-Tuderman L, Uitto J. Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone. Matrix Biol. 2018 Apr 05. PMID: 29627521.

Citations:
Uitto J, Li Q. Vascular Mineralization in Pseudoxanthoma Elasticum: Etidronate to the Rescue? J Am Coll Cardiol. 2018 Mar 13; 71(10):1127-1129. PMID: 29519354.

Citations:
Uitto J, Bruckner-Tuderman L, McGrath JA, Riedl R, Robinson C. EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure. J Invest Dermatol. 2018 Jan 31. PMID: 29391251.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, Norouz-Zadeh S, Amirinezhad N, Mozafari N, Daneshpazhooh M, Mahmoudi H, Hamid M, Bradfield JP, Kim CE, Hakonarson H, Uitto J. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Dermatol. 2018 Jan 24. PMID: 29364557.

Citations:
Uitto J. The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa. J Invest Dermatol. 2017 Dec 16. PMID: 29258894.

Citations:
Youssefian L, Touati A, Saeidian AH, Zargari O, Zeinali S, Vahidnezhad H, Uitto J. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017 Dec 06; 12(1):176. PMID: 29208051.

Citations:
Uitto J, Udey MC. The Importance of Research Data Sharing: The Meeting Reports Section of the JID. J Invest Dermatol. 2017 Dec; 137(12):2455-2456. PMID: 29169457.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol. 2018 Mar; 66:22-33. PMID: 29138120.

Citations:
Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. Eur J Hum Genet. 2017 11; 25(11):1282-1285. PMID: 28875980.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M, Barzegar M, Aghazadeh N, Mahmoudi H, Norouz-Zadeh S, Hamid M, Zahabiyon M, Bagherian H, Zeinali S, Fortina P, Uitto J. Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. J Invest Dermatol. 2017 Dec; 137(12):2649-2652. PMID: 28830826.

Citations:
Alexeev V, Salas-Alanis JC, Palisson F, Mukhtarzada L, Fortuna G, Uitto J, South A, Igoucheva O. Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration. J Invest Dermatol. 2017 Nov; 137(11):2298-2308. PMID: 28736230.

Citations:
Zhao J, Kingman J, Sundberg JP, Uitto J, Li Q. Plasma PPi Deficiency is the Major, But Not the Exclusive, Cause of Ectopic Mineralization in an Abcc6-/- Mouse Model of PXE. J Invest Dermatol. 2017 Jun 23. PMID: 28652107.

Citations:
Kingman J, Uitto J, Li Q. Elevated dietary magnesium during pregnancy and postnatal life prevents ectopic mineralization in Enpp1asj mice, a model for generalized arterial calcification of infancy. Oncotarget. 2017 Jun 13; 8(24):38152-38160. PMID: 28402956.

Citations:
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatol. 2017 Jun 01; 153(6):537-543. PMID: 28403434.

Citations:
Atanasova VS, Jiang Q, Prisco M, Gruber C, Piñón Hofbauer J, Chen M, Has C, Bruckner-Tuderman L, McGrath JA, Uitto J, South AP. Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2017 May 23. PMID: 28549954.

Citations:
Uitto J, Li Q, van de Wetering K, Váradi A, Terry SF. Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016. J Invest Dermatol. 2017 Apr; 137(4):790-795. PMID: 28340679.

Citations:
Samuelov L, Li Q, Bochner R, Najor NA, Albrecht L, Malchin N, Goldsmith T, Grafi-Cohen M, Vodo D, Fainberg G, Meilik B, Goldberg I, Warshauer E, Rogers T, Edie S, Ishida-Yamamoto A, Burzenski L, Erez N, Murray SA, Irvine AD, Shultz L, Green KJ, Uitto J, Sprecher E, Sarig O. SVEP1 plays a crucial role in epidermal differentiation. Exp Dermatol. 2017 May; 26(5):423-430. PMID: 27892606.

Citations:
Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J. Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome. Am J Gastroenterol. 2017 Feb; 112(2):396-398. PMID: 28154377.

Citations:
Rezk AF, Kemp DM, El-Domyati M, El-Din WH, Lee JB, Uitto J, Igoucheva O, Alexeev V. Misbalanced CXCL12 and CCL5 Chemotactic Signals in Vitiligo Onset and Progression. J Invest Dermatol. 2017 May; 137(5):1126-1134. PMID: 28132854.

Citations:
Li Q, Kingman J, van de Wetering K, Tannouri S, Sundberg JP, Uitto J. Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum. J Invest Dermatol. 2017 May; 137(5):1025-1032. PMID: 28111129.

Citations:
Youssefian L, Vahidnezhad H, Aghighi Y, Ziaee V, Zeinali S, Abiri M, Uitto J. Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene. Acta Derm Venereol. 2017 01 04; 97(1):108-109. PMID: 27174544.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J. Gene Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. J Invest Dermatol. 2016 Nov 21. PMID: 27884779.

Citations:
Siu SY, Dyment NA, Rowe DW, Sundberg JP, Uitto J, Li Q. Variable patterns of ectopic mineralization in Enpp1asj-2J mice, a model for generalized arterial calcification of infancy. Oncotarget. 2016 Nov 14. PMID: 27863377.

Citations:
Tamai K, Uitto J. Stem Cell Therapy for Epidermolysis Bullosa-Does It Work? J Invest Dermatol. 2016 Nov; 136(11):2119-2121. PMID: 27772543.

Citations:
Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. J Invest Dermatol. 2017 Mar; 137(3):660-669. PMID: 27899325.

Citations:
Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WH, Ast G, Gallo RL, Uitto J, Sprecher E. Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis. J Invest Dermatol. 2016 Oct 18. PMID: 27769845.

Citations:
Vahidnezhad H, Karamzadeh R, Saeidian AH, Youssefian L, Sotoudeh S, Zeinali S, Vasei M, Golnabi F, Baghdadi T, Uitto J. Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability. J Invest Dermatol. 2016 Oct 15. PMID: 27756598.

Citations:
Abiri M, Talebi S, Uitto J, Youssefian L, Vahidnezhad H, Shirzad T, Salehpour S, Zeinali S. Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity. J Pediatr Endocrinol Metab. 2016 Oct 1; 29(10):1215-1219. PMID: 27682710.

Citations:
Alexeev V, Donahue A, Uitto J, Igoucheva O. Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa. Stem Cell Res Ther. 2016; 7(1):124. PMID: 27568180.

Citations:
Uitto J, Has C, Vahidnezhad H, Youssefian L, Bruckner-Tuderman L. Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa. Matrix Biol. 2017 Jan; 57-58:76-85. PMID: 27496350.

Citations:
Zhou D, Gao Y, Aied A, Cutlar L, Igoucheva O, Newland B, Alexeeve V, Greiser U, Uitto J, Wang W. Highly branched poly(ß-amino ester)s for skin gene therapy. J Control Release. 2016 Dec 28; 244(Pt B):336-346. PMID: 27288877.

Citations:
Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J. KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. J Invest Dermatol. 2016 Sep; 136(9):1897-901. PMID: 27283507.

Citations:
South AP, Uitto J. Type VII Collagen Replacement Therapy in Recessive Dystrophic Epidermolysis Bullosa-How Much, How Often? J Invest Dermatol. 2016 Jun; 136(6):1079-81. PMID: 27212645.

Citations:
Ross NA, Chung HJ, Li Q, Andrews JP, Keller MS, Uitto J. Epidemiologic, Clinicopathologic, Diagnostic, and Management Challenges of Pityriasis Rubra Pilaris: A Case Series of 100 Patients. JAMA Dermatol. 2016 Jun 1; 152(6):670-5. PMID: 26963004.

Citations:
Uitto J, Vahidnezhad H, Youssefian L. Genotypic Heterogeneity and the Mode of Inheritance in Epidermolysis Bullosa. JAMA Dermatol. 2016 May 1; 152(5):517-20. PMID: 26817964.

Citations:
Li Q, Berndt A, Sundberg BA, Silva KA, Kennedy VE, Cario CL, Richardson MA, Chase TH, Schofield PN, Uitto J, Sundberg JP. Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis. Mamm Genome. 2016 Jun; 27(5-6):179-90. PMID: 27126641.

Citations:
Zhang J, Dyment NA, Rowe DW, Siu SY, Sundberg JP, Uitto J, Li Q. Ectopic mineralization of cartilage and collagen-rich tendons and ligaments in Enpp1asj-2J mice. Oncotarget. 2016 Mar 15; 7(11):12000-9. PMID: 26910915.

Citations:
Faraji Zonooz M, Sabbagh-Kermani F, Fattahi Z, Fadaee M, Akbari MR, Amiri R, Vahidnezhad H, Uitto J, Najmabadi H, Kariminejad A. Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with ?-Secretase Spectrum of Autoinflammatory Skin Phenotypes. J Invest Dermatol. 2016 Jun; 136(6):1283-6. PMID: 26968259.

Citations:
Li Q, Arányi T, Váradi A, Terry SF, Uitto J. Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders. J Invest Dermatol. 2016 Mar; 136(3):550-6. PMID: 26902123.

Citations:
Andrews JP, Marttala J, Macarak E, Rosenbloom J, Uitto J. Keloids: The paradigm of skin fibrosis - Pathomechanisms and treatment. Matrix Biol. 2016 Apr; 51:37-46. PMID: 26844756.

Citations:
Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP, Kopelan B, Robinson EC. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015. J Invest Dermatol. 2016 Feb; 136(2):352-8. PMID: 26802230.

Citations:
Marttala J, Andrews JP, Rosenbloom J, Uitto J. Keloids: Animal models and pathologic equivalents to study tissue fibrosis. Matrix Biol. 2016 Apr; 51:47-54. PMID: 26827712.

Citations:
Uitto J. Introduction to mini-review cluster on fibrotic diseases: A Festschrift to Joel Rosenbloom, M.D., Ph.D. Matrix Biol. 2016 Apr; 51:5-6. PMID: 26807762.

Citations:
Li Q, Kingman J, Sundberg JP, Levine MA, Uitto J. Dual Effects of Bisphosphonates on Ectopic Skin and Vascular Soft Tissue Mineralization versus Bone Microarchitecture in a Mouse Model of Generalized Arterial Calcification of Infancy. J Invest Dermatol. 2016 Jan; 136(1):275-83. PMID: 26763447.

Citations:
Vahidnezhad H, Yousse An L, Uitto J. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities. J Invest Dermatol. 2016 Jan; 136(1):15-23. PMID: 26763419.

Citations:
Vahidnezhad H, Youssefian L, Uitto J. Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS). Exp Dermatol. 2016 Jan; 25(1):17-9. PMID: 26268729.

Citations:
Li Q, Kingman J, Uitto J. Mineral content of the maternal diet influences ectopic mineralization in offspring of Abcc6(-/-) mice. Cell Cycle. 2015 Oct 2; 14(19):3184-9. PMID: 26199043.

Citations:
Hou Y, Guey LT, Wu T, Gao R, Cogan J, Wang X, Hong E, Vivian Ning W, Keene D, Liu N, Huang Y, Kaftan C, Tangarone B, Quinones-Garcia I, Uitto J, Francone OL, Woodley DT, Chen M. Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice. J Invest Dermatol. 2015 Dec; 135(12):3060-7. PMID: 26203639.

Citations:
Geyer MB, Radhakrishnan K, Giller R, Umegaki N, Harel S, Kiuru M, Morel KD, LeBoeuf N, Kandel J, Bruckner A, Fabricatore S, Chen M, Woodley D, McGrath J, Baxter-Lowe L, Uitto J, Christiano AM, Cairo MS. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa. J Pediatr. 2015 Sep; 167(3):765-769.e1. PMID: 26148662.

Citations:
Uitto J, Wang G. Molecular Genetics of Heritable Skin Diseases: Pseudoxanthoma Elasticum as a Paradigm of China-US Collaboration. J Investig Dermatol Symp Proc. 2015 Jul; 17(1):20-1. PMID: 26067309.

Citations:
Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, Uitto J, Wang G. Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations. J Invest Dermatol. 2015 Sep; 135(9):2338. PMID: 26084751.

Citations:
Liao Y, Ivanova L, Zhu H, Yahr A, Ayello J, van de Ven C, Rashad A, Uitto J, Christiano AM, Cairo MS. Rescue of the mucocutaneous manifestations by human cord blood derived nonhematopoietic stem cells in a mouse model of recessive dystrophic epidermolysis bullosa. Stem Cells. 2015 Jun; 33(6):1807-17. PMID: 25640200.

Citations:
Li Q, Sundberg JP, Levine MA, Terry SF, Uitto J. The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene. Cell Cycle. 2015 Apr 3; 14(7):1082-9. PMID: 25607347.

Citations:
South AP, Li Q, Uitto J. Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum. J Invest Dermatol. 2015 Apr; 135(4):937-40. PMID: 25785945.

Citations:
Li Q, Jin Chung H, Ross N, Keller M, Andrews J, Kingman J, Sarig O, Fuchs-Telem D, Sprecher E, Uitto J. Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-?B. J Invest Dermatol. 2015 Jul; 135(7):1905-8. PMID: 25734815.

Citations:
Youssefian L, Vahidnezhad H, Daneshpazhooh M, Abdollahzadeh S, Talari H, Khoshnevisan A, Chams-Davatchi C, Mobasher R, Li Q, Uitto J, Akhondzadeh S, Tabrizi M. Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Exp Dermatol. 2015 Mar; 24(3):220-2. PMID: 25529926.

Citations:
Andrews JP, Marttala J, Macarak E, Rosenbloom J, Uitto J. Keloid Pathogenesis: Potential Role of Cellular Fibronectin with the EDA Domain. J Invest Dermatol. 2015 Jul; 135(7):1921-4. PMID: 25685931.

Citations:
Youssefian L, Vahidnezhad H, Baghdadi T, Ghaznavi A, Li Q, Tabrizi M, Uitto J. Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene. J Invest Dermatol. 2015 May; 135(5):1450-3. PMID: 25602158.

Citations:
Jin L, Jiang Q, Wu Z, Shao C, Zhou Y, Yang L, Uitto J, Wang G. Genetic Heterogeneity of Pseudoxanthoma Elasticum: The Chinese Signature Profile of ABCC6 and ENPP1 Mutations. J Invest Dermatol. 2015 May; 135(5):1294-302. PMID: 25615550.

Citations:
Youssefian L, Vahidnezhad H, Barzegar M, Li Q, Sotoudeh S, Yazdanfar A, Ehsani AH, Kajbafzadeh AM, Mozafari N, Ebrahimi Daryani N, Agha-Hosseini F, Zeinali S, Uitto J. The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families. J Invest Dermatol. 2015 May; 135(5):1447-50. PMID: 25599393.

Citations:
Iinuma S, Aikawa E, Tamai K, Fujita R, Kikuchi Y, Chino T, Kikuta J, McGrath JA, Uitto J, Ishii M, Iizuka H, Kaneda Y. Transplanted Bone Marrow-Derived Circulating PDGFRa+ Cells Restore Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa Mouse Skin Graft. J Immunol. 2015 Feb 15; 194(4):1996-2003. PMID: 25601922.

Citations:
El-Domyati M, El-Ammawi TS, Medhat W, Moawad O, Mahoney MG, Uitto J. Expression of transforming growth factor-ß after different non-invasive facial rejuvenation modalities. Int J Dermatol. 2015 Apr; 54(4):396-404. PMID: 25514823.

Citations:
Li Q, Pratt CH, Dionne LA, Fairfield H, Karst SY, Sundberg JP, Uitto J. Spontaneous asj-2J Mutant Mouse as a Model for Generalized Arterial Calcification of Infancy: A Large Deletion/Insertion Mutation in the Enpp1 Gene. PLoS One. 2014; 9(12):e113542. PMID: 25479107.

Citations:
Li Q, Price TP, Sundberg JP, Uitto J. Juxta-articular joint-capsule mineralization in CD73 deficient mice: Similarities to patients with NT5E mutations. Cell Cycle. 2014 Aug 15; 13(16):2609-15. PMID: 25486201.

Citations:
Li Q, Uitto J. Zebrafish as a model system to study skin biology and pathology. J Invest Dermatol. 2014 Jun; 134(6):e21. PMID: 24825064.

Citations:
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONS. Expert Opin Orphan Drugs. 2014 Jun 01; 2(6):567-577. PMID: 25383264.

Citations:
Li Q, Chou DW, Price TP, Sundberg JP, Uitto J. Genetic modulation of nephrocalcinosis in mouse models of ectopic mineralization: the Abcc6(tm1Jfk) and Enpp1(asj) mutant mice. Lab Invest. 2014 Jun; 94(6):623-32. PMID: 24732453.

Citations:
Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun; 70(6):1103-26. PMID: 24690439.

Citations:
Li Q, Guo H, Chou DW, Berndt A, Sundberg JP, Uitto J. Mouse models for pseudoxanthoma elasticum: genetic and dietary modulation of the ectopic mineralization phenotypes. PLoS One. 2014; 9(2):e89268. PMID: 24586646.

Citations:
Boraldi F, Bartolomeo A, Li Q, Uitto J, Quaglino D. Changes in Dermal Fibroblasts from Abcc6(-/-) Mice Are Present before and after the Onset of Ectopic Tissue Mineralization. J Invest Dermatol. 2014 Jul; 134(7):1855-61. PMID: 24670382.

Citations:
Dumit VI, Küttner V, Käppler J, Piera-Velazquez S, Jimenez SA, Bruckner-Tuderman L, Uitto J, Dengjel J. Altered MCM Protein Levels and Autophagic Flux in Aged and Systemic Sclerosis Dermal Fibroblasts. J Invest Dermatol. 2014 Sep; 134(9):2321-30. PMID: 24496236.

Citations:
Pomozi V, Brampton C, Fülöp K, Chen LH, Apana A, Li Q, Uitto J, Le Saux O, Váradi A. Analysis of Pseudoxanthoma Elasticum-Causing Missense Mutants of ABCC6 In Vivo; Pharmacological Correction of the Mislocalized Proteins. J Invest Dermatol. 2014 Apr; 134(4):946-53. PMID: 24352041.

Citations:
Faria CS, Li Q, Guo H, Uitto J, Takeno SS, de Arruda Cardoso Smith M, Freire-Maia DV. Clinical phenotypes and ABCC6 gene mutations in brazilian families with pseudoxanthoma elasticum. Acta Derm Venereol. 2013 Nov; 93(6):739-40. PMID: 23572048.

Citations:
Uitto J. The benefits of international postdoctoral research fellowships: a personal perspective. J Invest Dermatol. 2013 Oct; 133(10):2301-2. PMID: 24030641.

Citations:
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E. Cole Disease Results from Mutations in ENPP1. Am J Hum Genet. 2013 Oct 3; 93(4):752-7. PMID: 24075184.

Citations:
Li Q, Brodsky JL, Conlin LK, Pawel B, Glatz AC, Gafni RI, Schurgers L, Uitto J, Hakonarson H, Deardorff MA, Levine MA. Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum. J Invest Dermatol. 2014 Mar; 134(3):658-65. PMID: 24008425.

Citations:
Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Progress in Epidermolysis Bullosa Research: Summary of DEBRA International Research Conference 2012. J Invest Dermatol. 2013 Sep; 133(9):2121-6. PMID: 23949764.

Citations:
Uitto J. Heritable disorders of connective tissue: introduction to mini-review cluster. Matrix Biol. 2014 Jan; 33:8-9. PMID: 23891699.

Citations:
Li Q, Jiang Q, Uitto J. Ectopic mineralization disorders of the extracellular matrix of connective tissue: molecular genetics and pathomechanisms of aberrant calcification. Matrix Biol. 2014 Jan; 33:23-8. PMID: 23891698.

Citations:
Guo H, Li Q, Chou DW, Uitto J. Atorvastatin counteracts aberrant soft tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6?/?). J Mol Med (Berl). 2013 Oct; 91(10):1177-84. PMID: 23807484.

Citations:
Li Q, Guo H, Chou DW, Berndt A, Sundberg JP, Uitto J. Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. Dis Model Mech. 2013 Sep-Oct; 6(5):1227-35. PMID: 23798568.

Citations:
Sundberg JP, Chevallier L, Silva KA, Kennedy VE, Sundberg BA, Li Q, Uitto J, King LE, Berndt A. Mouse alopecia areata and heart disease: know your mouse! J Invest Dermatol. 2014 Jan; 134(1):279-81. PMID: 23774530.

Citations:
Uitto J, Váradi A, Bercovitch L, Terry PF, Terry SF. Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting. J Invest Dermatol. 2013 Jun; 133(6):1444-9. PMID: 23673496.

Citations:
Zhou Y, Jiang Q, Takahagi S, Shao C, Uitto J. Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum. J Invest Dermatol. 2013 Dec; 133(12):2672-7. PMID: 23702584.

Citations:
Akoglu G, Li Q, Gokoz O, Gazyagci AS, Uitto J. Clinical and histopathological characteristics of a family with R1141X mutation of pseudoxanthoma elasticum - presymptomatic testing and lack of carrier phenotypes. Int J Dermatol. 2014 Jun; 53(6):692-8. PMID: 23675997.

Citations:
Wang X, Ghasri P, Amir M, Hwang B, Hou Y, Khilili M, Lin A, Keene D, Uitto J, Woodley DT, Chen M. Topical Application of Recombinant Type VII Collagen Incorporates Into the Dermal-Epidermal Junction and Promotes Wound Closure. Mol Ther. 2013 Jul; 21(7):1335-44. PMID: 23670575.

Citations:
Li Q, Uitto J. Mineralization/Anti-mineralization networks in the skin and vascular connective tissues. Am J Pathol. 2013 Jul; 183(1):10-8. PMID: 23665350.

Citations:
Kupetsky EA, Rincon F, Uitto J. Rate of change of carotid intima-media thickness with magnesium administration in abcc6(-/-) mice. Clin Transl Sci. 2013 Dec; 6(6):485-6. PMID: 24330694.

Citations:
El-Domyati M, El-Ammawi TS, Medhat W, Moawad O, Mahoney MG, Uitto J. Expression of p53 protein after nonablative rejuvenation: the other side of the coin. Dermatol Surg. 2013 Jun; 39(6):934-43. PMID: 23458347.

Citations:
Li Q, Guo H, Chou DW, Harrington DJ, Schurgers LJ, Terry SF, Uitto J. Warfarin accelerates ectopic mineralization in abcc6(-/-) mice: clinical relevance to pseudoxanthoma elasticum. Am J Pathol. 2013 Apr; 182(4):1139-50. PMID: 23415960.

Citations:
Alexeev V, Donahue A, Uitto J, Igoucheva O. Analysis of chemotactic molecules in bone marrow-derived mesenchymal stem cells and the skin: Ccl27-Ccr10 axis as a basis for targeting to cutaneous tissues. Cytotherapy. 2013 Feb; 15(2):171-184.e1. PMID: 23321329.

Citations:
Schurgers LJ, Uitto J, Reutelingsperger CP. Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization. Trends Mol Med. 2013 Apr; 19(4):217-26. PMID: 23375872.

Citations:
Woodley DT, Wang X, Amir M, Hwang B, Remington J, Hou Y, Uitto J, Keene D, Chen M. Intravenously Injected Recombinant Human Type VII Collagen Homes to Skin Wounds and Restores Skin Integrity of Dystrophic Epidermolysis Bullosa. J Invest Dermatol. 2013 Jul; 133(7):1910-3. PMID: 23321924.

Citations:
Li Q, Uitto J. Zebrafish as a model system to study heritable skin diseases. Methods Mol Biol. 2013; 961:411-24. PMID: 23325661.

Citations:
Jiang Q, Takahagi S, Uitto J. Administration of bone marrow derived mesenchymal stem cells into the liver: potential to rescue pseudoxanthoma elasticum in a mouse model (abcc6(-/-)). J Biomed Biotechnol. 2012; 2012:818937. PMID: 23251082.

Citations:
Uitto J. Milestones in genetics of structural skin disorders. J Invest Dermatol. 2012; 132(E1):E1. PMID: 23154623.

Citations:
Li Q, Uitto J. Heritable ectopic mineralization disorders: the paradigm of pseudoxanthoma elasticum. J Invest Dermatol. 2012; 132(E1):E15-9. PMID: 23154625.

Citations:
Uitto J. Molecular therapeutics for heritable skin diseases. J Invest Dermatol. 2012; 132(E1):E29-34. PMID: 23154630.

Citations:
Uitto J, Has C, Bruckner-Tuderman L. Cell-based therapies for epidermolysis bullosa - from bench to bedside. J Dtsch Dermatol Ges. 2012 Nov; 10(11):803-7. PMID: 23107326.

Citations:
Uitto J. Rare heritable skin diseases: targets for regenerative medicine. J Invest Dermatol. 2012 Nov; 132(11):2485-8. PMID: 23069901.

Citations:
Li Q, Uitto J. Heritable Ectopic Mineralization Disorders: The Paradigm of Pseudoxanthoma Elasticum. J Invest Dermatol. 2012 Nov; 132 Suppl 3:E15-9. PMID: 26875435.

Citations:
Uitto J. Milestones in Genetics of Structural Skin Disorders. J Invest Dermatol. 2012 Nov; 132 Suppl 3:E1. PMID: 26875433.

Citations:
Uitto J. Molecular Therapeutics for Heritable Skin Diseases. J Invest Dermatol. 2012 Nov; 132 Suppl 3:E29-34. PMID: 26875440.

Citations:
Uitto J, Li Q, Urban Z. The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa. Exp Dermatol. 2013 Feb; 22(2):88-92. PMID: 23088642.

Citations:
Berndt A, Li Q, Potter CS, Liang Y, Silva KA, Kennedy V, Uitto J, Sundberg JP. A single-nucleotide polymorphism in the abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum. J Invest Dermatol. 2013 Mar; 133(3):833-6. PMID: 23014343.

Citations:
Adair-Kirk TL, Griffin GL, Meyer MJ, Kelley DG, Miner JH, Keene DR, Marinkovich MP, Ruppert JM, Uitto J, Senior RM. Keratinocyte-targeted expression of human laminin ?2 rescues skin blistering and early lethality of laminin ?2 deficient mice. PLoS One. 2012; 7(9):e45546. PMID: 23029085.

Citations:
Pasmooij AM, Jonkman MF, Uitto J. Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy. Discov Med. 2012 Sep; 14(76):167-79. PMID: 23021371.

Citations:
Jiang Q, Uitto J. Restricting dietary magnesium accelerates ectopic connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-) ). Exp Dermatol. 2012 Sep; 21(9):694-9. PMID: 22897576.

Citations:
Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y, Shimizu H. Type VII Collagen Deficiency Causes Defective Tooth Enamel Formation due to Poor Differentiation of Ameloblasts. Am J Pathol. 2012 Nov; 181(5):1659-71. PMID: 22940071.

Citations:
El-Domyati M, El-Ammawi TS, Moawad O, El-Fakahany H, Medhat W, Mahoney MG, Uitto J. Efficacy of mesotherapy in facial rejuvenation: a histological and immunohistochemical evaluation. Int J Dermatol. 2012 Aug; 51(8):913-9. PMID: 22788806.

Citations:
Li Q, Berndt A, Guo H, Sundberg JP, Uitto J. A novel animal model for pseudoxanthoma elasticum: the KK/HlJ mouse. Am J Pathol. 2012 Oct; 181(4):1190-6. PMID: 22846719.

Citations:
Sarig O, Nahum S, Rapaport D, Ishida-Yamamoto A, Fuchs-Telem D, Qiaoli L, Cohen-Katsenelson K, Spiegel R, Nousbeck J, Israeli S, Borochowitz ZU, Padalon-Brauch G, Uitto J, Horowitz M, Shalev S, Sprecher E. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet. 2012 Aug 10; 91(2):337-42. PMID: 22840363.

Citations:
Li Q, Guo H, Matsui H, Honda H, Inaba T, Sundberg JP, Sprecher E, Uitto J. Mouse Samd9l is not a functional paralogue of the human SAMD9, the gene mutated in normophosphataemic familial tumoral calcinosis. Exp Dermatol. 2012 Jul; 21(7):554-6. PMID: 22716256.

Citations:
Fuchs-Telem D, Sarig O, van Steensel MA, Isakov O, Israeli S, Nousbeck J, Richard K, Winnepenninckx V, Vernooij M, Shomron N, Uitto J, Fleckman P, Richard G, Sprecher E. Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet. 2012 Jul 13; 91(1):163-70. PMID: 22703878.

Citations:
Salas-Alanis JC, Cepeda-Valdes R, Mellerio JE, Christiano AM, Uitto J. Progress in epidermolysis bullosa: summary of a workshop in CILAD-2010*. Int J Dermatol. 2012 Jun; 51(6):682-7. PMID: 22607285.

Citations:
El-Domyati M, El-Ammawi TS, Medhat W, Moawad O, Mahoney MG, Uitto J. Multiple minimally invasive Erbium: Yttrium Aluminum Garnet laser mini-peels for skin rejuvenation: an objective assessment. J Cosmet Dermatol. 2012 Jun; 11(2):122-30. PMID: 22672276.

Citations:
Kupetsky-Rincon EA, Li Q, Uitto J. Magnesium reduces carotid intima-media thickness in a mouse model of pseudoxanthoma elasticum: a novel treatment biomarker. Clin Transl Sci. 2012 Jun; 5(3):259-64. PMID: 22686203.

Citations:
Kavukcuoglu NB, Li Q, Pleshko N, Uitto J. Connective tissue mineralization in Abcc6-/- mice, a model for pseudoxanthoma elasticum. Matrix Biol. 2012 May; 31(4):246-52. PMID: 22421595.

Citations:
Uitto J, Rodeck U. Integration of investigative dermatology into the global biomedical research enterprise: past, present, and future. J Invest Dermatol. 2012 Mar; 132(3 Pt 2):1029-32. PMID: 22330270.

Citations:
Kupetsky-Rincon EA, Uitto J. Magnesium: novel applications in cardiovascular disease--a review of the literature. Ann Nutr Metab. 2012; 61(2):102-10. PMID: 22907037.

Citations:
Uitto J, Christiano AM, McLean WH, McGrath JA. Novel molecular therapies for heritable skin disorders. J Invest Dermatol. 2012 Mar; 132(3 Pt 2):820-8. PMID: 22158553.

Citations:
El-Domyati M, El-Ammawi TS, Moawad O, Medhat W, Mahoney MG, Uitto J. Intense pulsed light photorejuvenation: a histological and immunohistochemical evaluation. J Drugs Dermatol. 2011 Nov; 10(11):1246-52. PMID: 22052303.

Citations:
Fülöp K, Jiang Q, Wetering KV, Pomozi V, Szabó PT, Arányi T, Sarkadi B, Borst P, Uitto J, Váradi A. ABCC6 does not transport vitamin K3-glutathione conjugate from the liver: relevance to pathomechanisms of pseudoxanthoma elasticum. Biochem Biophys Res Commun. 2011 Nov 25; 415(3):468-71. PMID: 22056557.

Citations:
Lazic T, Li Q, Frank M, Uitto J, Zhou LH. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. Pediatr Dermatol. 2012 May-Jun; 29(3):349-57. PMID: 22011219.

Citations:
Li Q, Frank M, Akiyama M, Shimizu H, Ho SY, Thisse C, Thisse B, Sprecher E, Uitto J. Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. Dis Model Mech. 2011 Nov; 4(6):777-85. PMID: 21816950.

Citations:
Uitto J. Cell-based therapy for RDEB: how does it work? J Invest Dermatol. 2011 Aug; 131(8):1597-9. PMID: 21753764.

Citations:
Szabó Z, Váradi A, Li Q, Uitto J. ABCC6 does not transport adenosine - relevance to pathomechanism of pseudoxanthoma elasticum. Mol Genet Metab. 2011 Nov; 104(3):421; author reply 422. PMID: 21813308.

Citations:
Uitto J, Bercovitch L, Terry SF, Terry PF. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research Meeting. Am J Med Genet A. 2011 Jul; 155A(7):1517-26. PMID: 21671388.

Citations:
El-Domyati M, El-Ammawi TS, Medhat W, Moawad O, Mahoney MG, Uitto J. Effects of the Nd:YAG 1320-nm laser on skin rejuvenation: clinical and histological correlations. J Cosmet Laser Ther. 2011 Jun; 13(3):98-106. PMID: 21609211.

Citations:
Uitto J. In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive. Acta Derm Venereol. 2011 May; 91(3):259-61. PMID: 21547333.

Citations:
Remvig L, Engelbert RH, Berglund B, Bulbena A, Byers PH, Grahame R, Juul-Kristensen B, Lindgren KA, Uitto J, Wekre LL. Need for a consensus on the methods by which to measure joint mobility and the definition of norms for hypermobility that reflect age, gender and ethnic-dependent variation: is revision of criteria for joint hypermobility syndrome and Ehlers-Danlos syndrome hypermobility type indicated? Rheumatology (Oxford). 2011 Jun; 50(6):1169-71. PMID: 21482540.

Citations:
Tamai K, Yamazaki T, Chino T, Ishii M, Otsuru S, Kikuchi Y, Iinuma S, Saga K, Nimura K, Shimbo T, Umegaki N, Katayama I, Miyazaki J, Takeda J, McGrath JA, Uitto J, Kaneda Y. PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A. 2011 Apr 19; 108(16):6609-14. PMID: 21464317.

Citations:
Uitto J. Regenerative medicine for skin diseases: iPS cells to the rescue. J Invest Dermatol. 2011 Apr; 131(4):812-4. PMID: 21407233.

Citations:
Li Q, Uitto J. Expression of the Abca-subfamily of genes in Abcc6-/- mice--upregulation of Abca4. Exp Dermatol. 2011 May; 20(5):452-4. PMID: 21435020.

Citations:
Jiang Q, Quaynor B, Sun A, Li Q, Matsui H, Honda H, Inaba T, Sprecher E, Uitto J. The Samd9L gene: transcriptional regulation and tissue-specific expression in mouse development. J Invest Dermatol. 2011 Jul; 131(7):1428-34. PMID: 21412262.

Citations:
LaRusso J, Li Q, Uitto J. Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders - can diet help? J Dtsch Dermatol Ges. 2011 Aug; 9(8):586-93. PMID: 21435181.

Citations:
el-Domyati M, el-Ammawi TS, Medhat W, Moawad O, Brennan D, Mahoney MG, Uitto J. Radiofrequency facial rejuvenation: evidence-based effect. J Am Acad Dermatol. 2011 Mar; 64(3):524-35. PMID: 21315951.

Citations:
Jiang Q, Li Q, Grand-Pierre AE, Schurgers LJ, Uitto J. Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum. Cell Cycle. 2011 Feb 15; 10(4):701-7. PMID: 21304270.

Citations:
Li Q, Frank M, Thisse CI, Thisse BV, Uitto J. Zebrafish: a model system to study heritable skin diseases. J Invest Dermatol. 2011 Mar; 131(3):565-71. PMID: 21191402.

Citations:
Lai-Cheong JE, McGrath JA, Uitto J. Revertant mosaicism in skin: natural gene therapy. Trends Mol Med. 2011 Mar; 17(3):140-8. PMID: 21195026.

Citations:
Li Q, Sadowski S, Uitto J. Angioid streaks in Pseudoxanthoma Elasticum: role of the p.R1268Q mutation in the ABCC6 gene. J Invest Dermatol. 2011 Mar; 131(3):782-5. PMID: 21179111.

Citations:
Hershkovitz D, Gross Y, Nahum S, Yehezkel S, Sarig O, Uitto J, Sprecher E. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. J Invest Dermatol. 2011 Mar; 131(3):662-9. PMID: 21160498.

Citations:
Larusso J, Ringpfeil F, Uitto J. Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy. Clin Transl Sci. 2010 Dec; 3(6):295-8. PMID: 21167005.

Citations:
El-Domyati M, El-Ammawi TS, Medhat W, Moawad O, Mahoney MG, Uitto J. Electro-optical Synergy Technique: A New and Effective Nonablative Approach to Skin Aging. J Clin Aesthet Dermatol. 2010 Dec; 3(12):22-30. PMID: 21203352.

Citations:
Alexeev V, Uitto J, Igoucheva O. Gene expression signatures of mouse bone marrow-derived mesenchymal stem cells in the cutaneous environment and therapeutic implications for blistering skin disorder. Cytotherapy. 2011 Jan; 13(1):30-45. PMID: 20854215.

Citations:
Kim SH, Choi HY, So JH, Kim CH, Ho SY, Frank M, Li Q, Uitto J. Zebrafish type XVII collagen: gene structures, expression profiles, and morpholino "knock-down" phenotypes. Matrix Biol. 2010 Sep; 29(7):629-37. PMID: 20670682.

Citations:
Li Q, Sadowski S, Frank M, Chai C, Váradi A, Ho SY, Lou H, Dean M, Thisse C, Thisse B, Uitto J. The abcc6a gene expression is required for normal zebrafish development. J Invest Dermatol. 2010 Nov; 130(11):2561-8. PMID: 20596085.

Citations:
Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol. 2010 Jun; 130(6):1485-8. PMID: 20463671.

Citations:
Uitto J, McGrath JA, Rodeck U, Bruckner-Tuderman L, Robinson EC. Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol. 2010 Jul; 130(7):1778-84. PMID: 20393479.

Citations:
Jiang Q, Oldenburg R, Otsuru S, Grand-Pierre AE, Horwitz EM, Uitto J. Parabiotic heterogenetic pairing of Abcc6-/-/Rag1-/- mice and their wild-type counterparts halts ectopic mineralization in a murine model of pseudoxanthoma elasticum. Am J Pathol. 2010 Apr; 176(4):1855-62. PMID: 20185580.

Citations:
Jiang Q, Dibra F, Lee MD, Oldenburg R, Uitto J. Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)). J Invest Dermatol. 2010 May; 130(5):1288-96. PMID: 20090764.

Citations:
Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010 Jan; 28(1):43-54. PMID: 19945615.

Citations:
Chung HJ, Uitto J. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin. 2010 Jan; 28(1):93-105. PMID: 19945621.

Citations:
Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010 Mar; 130(3):661-70. PMID: 20032990.

Citations:
Li Q, Larusso J, Grand-Pierre AE, Uitto J. Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum. Clin Transl Sci. 2009 Dec; 2(6):398-404. PMID: 20443931.

Citations:
Mahoney MG, Sadowski S, Brennan D, Pikander P, Saukko P, Wahl J, Aho H, Heikinheimo K, Bruckner-Tuderman L, Fertala A, Peltonen J, Uitto J, Peltonen S. Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol. 2010 Apr; 130(4):968-78. PMID: 19924139.

Citations:
Papazoglou E, Sunkari C, Neidrauer M, Klement JF, Uitto J. Noninvasive assessment of UV-induced skin damage: comparison of optical measurements to histology and MMP expression. Photochem Photobiol. 2010 Jan-Feb; 86(1):138-45. PMID: 19906094.

Citations:
Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H. Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation. Am J Pathol. 2009 Dec; 175(6):2508-17. PMID: 19893033.

Citations:
Chung HJ, Steplewski A, Uitto J, Fertala A. Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII. Biochem Biophys Res Commun. 2009 Dec 18; 390(3):662-6. PMID: 19822129.

Citations:
Li Q, Uitto J. The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum. J Mol Med (Berl). 2010 Feb; 88(2):173-81. PMID: 19784827.

Citations:
Tamai K, Kaneda Y, Uitto J. Molecular therapies for heritable blistering diseases. Trends Mol Med. 2009 Jul; 15(7):285-92. PMID: 19581127.

Citations:
Mahoney MG, Brennan D, Starcher B, Faryniarz J, Ramirez J, Parr L, Uitto J. Extracellular matrix in cutaneous ageing: the effects of 0.1% copper-zinc malonate-containing cream on elastin biosynthesis. Exp Dermatol. 2009 Mar; 18(3):205-11. PMID: 19400831.

Citations:
Uitto J. Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*. Acta Derm Venereol. 2009; 89(3):228-35. PMID: 19479117.

Citations:
LaRusso J, Li Q, Jiang Q, Uitto J. Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)). J Invest Dermatol. 2009 Jun; 129(6):1388-94. PMID: 19122649.

Citations:
Uitto J. Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype. Acta Derm Venereol. 2009; 89(1):4-5. PMID: 19209409.

Citations:
Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene. Am J Pathol. 2009 Feb; 174(2):534-40. PMID: 19116367.

Citations:
Remington J, Wang X, Hou Y, Zhou H, Burnett J, Muirhead T, Uitto J, Keene DR, Woodley DT, Chen M. Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther. 2009 Jan; 17(1):26-33. PMID: 19018253.

Citations:
Tolar J, Ishida-Yamamoto A, Riddle M, McElmurry RT, Osborn M, Xia L, Lund T, Slattery C, Uitto J, Christiano AM, Wagner JE, Blazar BR. Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood. 2009 Jan 29; 113(5):1167-74. PMID: 18955559.

Citations:
Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009 Jan; 18(1):1-11. PMID: 19054062.

Citations:
Chefetz I, Kohno K, Izumi H, Uitto J, Richard G, Sprecher E. GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. Biochim Biophys Acta. 2009 Jan; 1792(1):61-7. PMID: 18976705.

Citations:
Li Q, Grange DK, Armstrong NL, Whelan AJ, Hurley MY, Rishavy MA, Hallgren KW, Berkner KL, Schurgers LJ, Jiang Q, Uitto J. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes. J Invest Dermatol. 2009 Mar; 129(3):553-63. PMID: 18800149.

Citations:
Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J Invest Dermatol. 2008 Sep; 128(9):2140-2. PMID: 18695685.

Citations:
Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol. 2009 Feb; 129(2):348-54. PMID: 18685618.

Citations:
Chino T, Tamai K, Yamazaki T, Otsuru S, Kikuchi Y, Nimura K, Endo M, Nagai M, Uitto J, Kitajima Y, Kaneda Y. Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance. Am J Pathol. 2008 Sep; 173(3):803-14. PMID: 18688022.

Citations:
Chung HJ, Steplewski A, Chung KY, Uitto J, Fertala A. Collagen fibril formation. A new target to limit fibrosis. J Biol Chem. 2008 Sep 19; 283(38):25879-86. PMID: 18650436.

Citations:
Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, Shimizu H, Uitto J, Vahlquist A, Woodley D, Zambruno G. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun; 58(6):931-50. PMID: 18374450.

Citations:
Aizu T, Tamai K, Nakano H, Rokunohe D, Toyomaki Y, Uitto J, Sawamura D. Calcineurin/NFAT-dependent regulation of 230-kDa bullous pemphigoid antigen (BPAG1) gene expression in normal human epidermal keratinocytes. J Dermatol Sci. 2008 Jul; 51(1):45-51. PMID: 18353617.

Citations:
Katsuta Y, Ogura Y, Iriyama S, Goetinck PF, Klement JF, Uitto J, Amano S. Fibulin-5 accelerates elastic fibre assembly in human skin fibroblasts. Exp Dermatol. 2008 Oct; 17(10):837-42. PMID: 18341572.

Citations:
Weinel S, Lucky AW, Uitto J, Pfendner EG, Choo D. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Pediatr Dermatol. 2008 Mar-Apr; 25(2):210-4. PMID: 18429782.

Citations:
Uitto J. The role of elastin and collagen in cutaneous aging: intrinsic aging versus photoexposure. J Drugs Dermatol. 2008 Feb; 7(2 Suppl):s12-6. PMID: 18404866.

Citations:
Van QN, Issaq HJ, Jiang Q, Li Q, Muschik GM, Waybright TJ, Lou H, Dean M, Uitto J, Veenstra TD. Comparison of 1D and 2D NMR spectroscopy for metabolic profiling. J Proteome Res. 2008 Feb; 7(2):630-9. PMID: 18081246.

Citations:
Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, Terry SF, Van Acker P, Matthys D, Loeys B, De Paepe A. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008 Jan; 29(1):205. PMID: 18157818.

Citations:
Pfendner EG, Uitto J, Gerard GF, Terry SF. Pseudoxanthoma elasticum: genetic diagnostic markers. Expert Opin Med Diagn. 2008 Jan; 2(1):63-79. PMID: 23485117.

Citations:
Sevilla LM, Nachat R, Groot KR, Klement JF, Uitto J, Djian P, Määttä A, Watt FM. Mice deficient in involucrin, envoplakin, and periplakin have a defective epidermal barrier. J Cell Biol. 2007 Dec 31; 179(7):1599-612. PMID: 18166659.

Citations:
Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E. Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. J Invest Dermatol. 2008 Jun; 128(6):1423-9. PMID: 18094730.

Citations:
McGrath JA, Uitto J. The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med. 2008 Jan; 14(1):20-7. PMID: 18068483.

Citations:
Igoucheva O, Kelly A, Uitto J, Alexeev V. Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. J Invest Dermatol. 2008 Jun; 128(6):1476-86. PMID: 18079746.

Citations:
Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008 Jun; 128(6):1517-24. PMID: 18049449.

Citations:
Li Q, Jiang Q, Uitto J. Pseudoxanthoma elasticum: oxidative stress and antioxidant diet in a mouse model (Abcc6-/-). J Invest Dermatol. 2008 May; 128(5):1160-4. PMID: 18049453.

Citations:
Nakajima K, Tamai K, Yamazaki T, Toyomaki Y, Nakano H, Uitto J, Sawamura D. Identification of Skn-1n, a splice variant induced by high calcium concentration and specifically expressed in normal human keratinocytes. J Invest Dermatol. 2008 May; 128(5):1336-9. PMID: 17989732.

Citations:
LaRusso J, Jiang Q, Li Q, Uitto J. Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study. Exp Dermatol. 2008 Mar; 17(3):203-7. PMID: 17979973.

Citations:
Li Q, Jiang Q, Schurgers LJ, Uitto J. Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). Biochem Biophys Res Commun. 2007 Dec 14; 364(2):208-13. PMID: 17942075.

Citations:
Li Q, Jiang Q, Larusso J, Klement JF, Sartorelli AC, Belinsky MG, Kruh GD, Uitto J. Targeted ablation of Abcc1 or Abcc3 in Abcc6(-/-) mice does not modify the ectopic mineralization process. Exp Dermatol. 2007 Oct; 16(10):853-9. PMID: 17845218.

Citations:
Rodeck U, Uitto J. Recessive dystrophic epidermolysis bullosa-associated squamous-cell carcinoma: an enigmatic entity with complex pathogenesis. J Invest Dermatol. 2007 Oct; 127(10):2295-6. PMID: 17853916.

Citations:
Kawachi M, Tamai K, Saga K, Yamazaki T, Fujita H, Shimbo T, Kikuchi Y, Nimura K, Nishifuji K, Amagai M, Uitto J, Kaneda Y. Development of tissue-targeting hemagglutinating virus of Japan envelope vector for successful delivery of therapeutic gene to mouse skin. Hum Gene Ther. 2007 Oct; 18(10):881-94. PMID: 17892442.

Citations:
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct; 44(10):621-8. PMID: 17617515.

Citations:
Rodeck U, Fertala A, Uitto J. Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa. Exp Dermatol. 2007 Jun; 16(6):465-7. PMID: 17518985.

Citations:
Uitto J, Richard G, McGrath JA. Diseases of epidermal keratins and their linker proteins. Exp Cell Res. 2007 Jun 10; 313(10):1995-2009. PMID: 17531221.

Citations:
Featherstone C, Uitto J. Ex vivo gene therapy cures a blistering skin disease. Trends Mol Med. 2007 Jun; 13(6):219-22. PMID: 17416553.

Citations:
Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol. 2007 Jul; 127(7):1772-5. PMID: 17344927.

Citations:
Uitto J, Jiang Q. Pseudoxanthoma elasticum-like phenotypes: more diseases than one. J Invest Dermatol. 2007 Mar; 127(3):507-10. PMID: 17299431.

Citations:
Brennan D, Hu Y, Joubeh S, Choi YW, Whitaker-Menezes D, O'Brien T, Uitto J, Rodeck U, Mahoney MG. Suprabasal Dsg2 expression in transgenic mouse skin confers a hyperproliferative and apoptosis-resistant phenotype to keratinocytes. J Cell Sci. 2007 Mar 1; 120(Pt 5):758-71. PMID: 17284515.

Citations:
Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007 Feb; 8(2):157-64. PMID: 17230202.

Citations:
Jiang Q, Li Q, Uitto J. Aberrant mineralization of connective tissues in a mouse model of pseudoxanthoma elasticum: systemic and local regulatory factors. J Invest Dermatol. 2007 Jun; 127(6):1392-402. PMID: 17273159.

Citations:
Uitto J. IL-6 signaling pathway in keloids: a target for pharmacologic intervention? J Invest Dermatol. 2007 Jan; 127(1):6-8. PMID: 17170717.

Citations:
Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007 Mar; 44(3):181-92. PMID: 16971478.

Citations:
Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct; 79(4):724-30. PMID: 16960809.

Citations:
Topaz O, Indelman M, Chefetz I, Geiger D, Metzker A, Altschuler Y, Choder M, Bercovich D, Uitto J, Bergman R, Richard G, Sprecher E. A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis. Am J Hum Genet. 2006 Oct; 79(4):759-64. PMID: 16960814.

Citations:
Jiang Q, Uitto J. Pseudoxanthoma elasticum: a metabolic disease? J Invest Dermatol. 2006 Jul; 126(7):1440-1. PMID: 16778810.

Citations:
Ringpfeil F, McGuigan K, Fuchsel L, Kozic H, Larralde M, Lebwohl M, Uitto J. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol. 2006 Apr; 126(4):782-6. PMID: 16410789.

Citations:
Abu Sa'd J, Indelman M, Pfendner E, Falik-Zaccai TC, Mizrachi-Koren M, Shalev S, Ben Amitai D, Raas-Rothshild A, Adir-Shani A, Borochowitz ZU, Gershoni-Baruch R, Khayat M, Landau D, Richard G, Bergman R, Uitto J, Kanaan M, Sprecher E. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol. 2006 Apr; 126(4):777-81. PMID: 16439963.

Citations:
Fujimoto N, Terlizzi J, Aho S, Brittingham R, Fertala A, Oyama N, McGrath JA, Uitto J. Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol. 2006 Apr; 15(4):300-7. PMID: 16512877.

Citations:
Kaneko T, Tamai K, Matsuzaki Y, Yamazaki T, Nakano H, Kon A, Hashimoto I, Hanada K, Kaneda Y, Uitto J. Interferon-gamma down-regulates expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1) in epidermal keratinocytes via novel chimeric sequences of ISRE and GAS. Exp Dermatol. 2006 Apr; 15(4):308-14. PMID: 16512878.

Citations:
Brittingham R, Uitto J, Fertala A. High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV. Biochem Biophys Res Commun. 2006 May 12; 343(3):692-9. PMID: 16563355.

Citations:
Shurman D, Losi-Sasaki J, Grimwood R, Kivirikko S, Tichy E, Uitto J, Richard G. Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to date. Eur J Dermatol. 2006 Mar-Apr; 16(2):132-5. PMID: 16581562.

Citations:
Nguyen NM, Pulkkinen L, Schlueter JA, Meneguzzi G, Uitto J, Senior RM. Lung development in laminin gamma2 deficiency: abnormal tracheal hemidesmosomes with normal branching morphogenesis and epithelial differentiation. Respir Res. 2006; 7:28. PMID: 16483354.

Citations:
Jiang Q, Matsuzaki Y, Li K, Uitto J. Transcriptional regulation and characterization of the promoter region of the human ABCC6 gene. J Invest Dermatol. 2006 Feb; 126(2):325-35. PMID: 16374464.

Citations:
Matsuzaki Y, Nakano A, Jiang QJ, Pulkkinen L, Uitto J. Tissue-specific expression of the ABCC6 gene. J Invest Dermatol. 2005 Nov; 125(5):900-5. PMID: 16297187.

Citations:
Klement JF, Matsuzaki Y, Jiang QJ, Terlizzi J, Choi HY, Fujimoto N, Li K, Pulkkinen L, Birk DE, Sundberg JP, Uitto J. Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Mol Cell Biol. 2005 Sep; 25(18):8299-310. PMID: 16135817.

Citations:
Hata D, Miyazaki M, Seto S, Kadota E, Muso E, Takasu K, Nakano A, Tamai K, Uitto J, Nagata M, Moriyama K, Miyazaki K. Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. Pediatrics. 2005 Oct; 116(4):e601-7. PMID: 16147969.

Citations:
Uitto J. The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics. Eur J Dermatol. 2005 Sep-Oct; 15(5):311-2. PMID: 16172036.

Citations:
Fujimoto N, Terlizzi J, Brittingham R, Fertala A, McGrath JA, Uitto J. Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun. 2005 Aug 12; 333(4):1327-33. PMID: 15990087.

Citations:
Uitto J. The gene family of ABC transporters--novel mutations, new phenotypes. Trends Mol Med. 2005 Aug; 11(8):341-3. PMID: 15996518.

Citations:
Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol. 2005 Aug; 125(2):239-43. PMID: 16098032.

Citations:
Aumailley M, Bruckner-Tuderman L, Carter WG, Deutzmann R, Edgar D, Ekblom P, Engel J, Engvall E, Hohenester E, Jones JC, Kleinman HK, Marinkovich MP, Martin GR, Mayer U, Meneguzzi G, Miner JH, Miyazaki K, Patarroyo M, Paulsson M, Quaranta V, Sanes JR, Sasaki T, Sekiguchi K, Sorokin LM, Talts JF, Tryggvason K, Uitto J, Virtanen I, von der Mark K, Wewer UM, Yamada Y, Yurchenco PD. A simplified laminin nomenclature. Matrix Biol. 2005 Aug; 24(5):326-32. PMID: 15979864.

Citations:
Jiang QJ, Uitto J. Animal models of epidermolysis bullosa--targets for gene therapy. J Invest Dermatol. 2005 Mar; 124(3):xi-xiii. PMID: 15812910.

Citations:
Uitto J, Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol. 2005 Jan-Feb; 23(1):33-40. PMID: 15708287.

Citations:
Kalinin AE, Kalinin AE, Aho M, Uitto J, Aho S. Breaking the connection: caspase 6 disconnects intermediate filament-binding domain of periplakin from its actin-binding N-terminal region. J Invest Dermatol. 2005 Jan; 124(1):46-55. PMID: 15654952.

Citations:
Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2005 Jan; 124(1):111-5. PMID: 15654962.

Citations:
Takahashi Y, Rouan F, Uitto J, Ishida-Yamamoto A, Iizuka H, Owaribe K, Tanigawa M, Ishii N, Yasumoto S, Hashimoto T. Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy. J Dermatol Sci. 2005 Feb; 37(2):87-93. PMID: 15659326.

Citations:
Odanagi M, Kikuchi Y, Yamazaki T, Kaneko T, Nakano H, Tamai K, Uitto J, Vitto J, Hanada K. Transcriptional regulation of the 230-kDa bullous pemphigoid antigen gene expression by interferon regulatory factor 1 and interferon regulatory factor 2 in normal human epidermal keratinocytes. Exp Dermatol. 2004 Dec; 13(12):773-9. PMID: 15560761.

Citations:
El-Domyati MM, Attia SK, Saleh FY, Ahmad HM, Uitto J. Effect of topical tretinoin on photoaged facial skin: a histometric, immunohistochemical and ultrastructural study. J Cosmet Dermatol. 2004 Dec; 3(4):191-201. PMID: 17166106.

Citations:
Uitto J, Richard G. Progress in epidermolysis bullosa: genetic classification and clinical implications. Am J Med Genet C Semin Med Genet. 2004 Nov 15; 131C(1):61-74. PMID: 15468152.

Citations:
Brittingham R, Colombo M, Ito H, Steplewski A, Birk DE, Uitto J, Fertala A. Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils. J Biol Chem. 2005 Jan 7; 280(1):191-8. PMID: 15509587.

Citations:
Uitto J. Epidermolysis bullosa: the expanding mutation database. J Invest Dermatol. 2004 Oct; 123(4):xii-xiii. PMID: 15373798.

Citations:
Brennan D, Hu Y, Kljuic A, Choi Y, Joubeh S, Bashkin M, Wahl J, Fertala A, Pulkkinen L, Uitto J, Christiano AM, Panteleyev A, Mahoney MG. Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation. 2004 Oct; 72(8):434-49. PMID: 15606502.

Citations:
Aho S, Li K, Ryoo Y, McGee C, Ishida-Yamamoto A, Uitto J, Klement JF. Periplakin gene targeting reveals a constituent of the cornified cell envelope dispensable for normal mouse development. Mol Cell Biol. 2004 Jul; 24(14):6410-8. PMID: 15226441.

Citations:
Metz BJ, Ruggeri SY, Hsu S, Reed JA, Ghohestani AS, Uitto J, Ghohestani RF. Linear IgA dermatosis with IgA and IgG autoantibodies to the 180 kDa bullous pemphigoid antigen (BP180): evidence for a distinct subtype. Int J Dermatol. 2004 Jun; 43(6):443-6. PMID: 15186228.

Citations:
Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004 Apr; 122(4):xii-xiii. PMID: 15102105.

Citations:
Uitto J. Pseudoxanthoma elasticum-a connective tissue disease or a metabolic disorder at the genome/environment interface? J Invest Dermatol. 2004 Mar; 122(3):ix-x. PMID: 15086584.

Citations:
Schara U, Tücke J, Mortier W, Nüsslein T, Rouan F, Pfendner E, Zillikens D, Bruckner-Tuderman L, Uitto J, Wiche G, Schröder R. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur J Pediatr. 2004 Apr; 163(4-5):218-22. PMID: 14963703.

Citations:
El-Domyati MB, Attia SK, Saleh FY, Ahmad HM, Uitto JJ. Trichloroacetic acid peeling versus dermabrasion: a histometric, immunohistochemical, and ultrastructural comparison. Dermatol Surg. 2004 Feb; 30(2 Pt 1):179-88. PMID: 14756647.

Citations:
Naso M, Uitto J, Klement JF. Transcriptional control of the mouse Col7a1 gene in keratinocytes: basal and transforming growth factor-beta regulated expression. J Invest Dermatol. 2003 Dec; 121(6):1469-78. PMID: 14675198.

Citations:
Colombo M, Brittingham RJ, Klement JF, Majsterek I, Birk DE, Uitto J, Fertala A. Procollagen VII self-assembly depends on site-specific interactions and is promoted by cleavage of the NC2 domain with procollagen C-proteinase. Biochemistry. 2003 Oct 7; 42(39):11434-42. PMID: 14516194.

Citations:
Meng X, Klement JF, Leperi DA, Birk DE, Sasaki T, Timpl R, Uitto J, Pulkkinen L. Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol. 2003 Oct; 121(4):720-31. PMID: 14632187.

Citations:
Hwang LY, Lee JB, Richard G, Uitto JJ, Hsu S. Type 1 segmental manifestation of Hailey-Hailey disease. J Am Acad Dermatol. 2003 Oct; 49(4):712-4. PMID: 14512922.

Citations:
El-Domyati MM, Attia SK, Saleh FY, Ahmad HM, Gasparro FP, Uitto JJ. Effect of topical tretinoin, chemical peeling and dermabrasion on p53 expression in facial skin. Eur J Dermatol. 2003 Sep-Oct; 13(5):433-8. PMID: 14693485.

Citations:
Uitto J, Pfendner E, Jackson LG. Probing the fetal genome: progress in non-invasive prenatal diagnosis. Trends Mol Med. 2003 Aug; 9(8):339-43. PMID: 12928035.

Citations:
Pfendner EG, Nakano A, Pulkkinen L, Christiano AM, Uitto J. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk. Prenat Diagn. 2003 Jun; 23(6):447-56. PMID: 12813757.

Citations:
Ghohestani RF, Rotunda SL, Hudson B, Gaughan WJ, Farber JL, Webster G, Uitto J. Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to alpha5 and alpha6 chains of type IV collagen. Lab Invest. 2003 May; 83(5):605-11. PMID: 12746470.

Citations:
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG, Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J, Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, Christiano AM. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18; 113(2):249-60. PMID: 12705872.

Citations:
Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol. 2003 Apr; 139(4):498-505. PMID: 12707098.

Citations:
Richard G, Brown N, Rouan F, Van der Schroeff JG, Bijlsma E, Eichenfield LF, Sybert VP, Greer KE, Hogan P, Campanelli C, Compton JG, Bale SJ, DiGiovanna JJ, Uitto J. Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Invest Dermatol. 2003 Apr; 120(4):601-9. PMID: 12648223.

Citations:
Sprecher E, Yosipovitch G, Bergman R, Ciubutaro D, Indelman M, Pfendner E, Goh LC, Miller CJ, Uitto J, Richard G. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5. J Invest Dermatol. 2003 Apr; 120(4):623-6. PMID: 12648226.

Citations:
Markova D, Zou Y, Ringpfeil F, Sasaki T, Kostka G, Timpl R, Uitto J, Chu ML. Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet. 2003 Apr; 72(4):998-1004. PMID: 12618961.

Citations:
Matsuzaki Y, Tamai K, Kon A, Sawamura D, Uitto J, Hashimoto I. Keratinocyte responsive element 3: analysis of a keratinocyte-specific regulatory sequence in the 230-kDa bullous pemphigoid antigen gene promoter. J Invest Dermatol. 2003 Feb; 120(2):308-12. PMID: 12542537.

Citations:
El-Domyati MB, Attia S, Saleh F, Galaria N, Ahmad H, Gasparro FP, Uitto J. Expression of p53 in normal sun-exposed and protected skin (type IV-V) in different decades of age. Acta Derm Venereol. 2003; 83(2):98-104. PMID: 12735636.

Citations:
Pulkkinen L, Choi YW, Simpson A, Montagutelli X, Sundberg J, Uitto J, Mahoney MG. Loss of cell adhesion in Dsg3bal-Pas mice with homozygous deletion mutation (2079del14) in the desmoglein 3 gene. J Invest Dermatol. 2002 Dec; 119(6):1237-43. PMID: 12485423.

Citations:
Uitto J, Pulkkinen L, Ringpfeil F. Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum. J Investig Dermatol Symp Proc. 2002 Dec; 7(1):6-16. PMID: 12518787.

Citations:
Kazerounian S, Uitto J, Aho S. Unique role for the periplakin tail in intermediate filament association: specific binding to keratin 8 and vimentin. Exp Dermatol. 2002 Oct; 11(5):428-38. PMID: 12366696.

Citations:
Sprecher E, Itin P, Whittock NV, McGrath JA, Meyer R, DiGiovanna JJ, Bale SJ, Uitto J, Richard G. Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol. 2002 Sep; 119(3):692-8. PMID: 12230514.

Citations:
Pulkkinen L, Ringpfeil F, Uitto J. Progress in heritable skin diseases: molecular bases and clinical implications. J Am Acad Dermatol. 2002 Jul; 47(1):91-104. PMID: 12077587.

Citations:
Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Fürst DO, Blümcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002 Jun; 61(6):520-30. PMID: 12071635.

Citations:
Uitto J. Searching for clues to premature aging. Trends Endocrinol Metab. 2002 May-Jun; 13(4):140-1. PMID: 11943554.

Citations:
Mahoney MG, Simpson A, Aho S, Uitto J, Pulkkinen L. Interspecies conservation and differential expression of mouse desmoglein gene family. Exp Dermatol. 2002 Apr; 11(2):115-25. PMID: 11994138.

Citations:
Aho S, Levänsuo L, Montonen O, Kari C, Rodeck U, Uitto J. Specific sequences in p120ctn determine subcellular distribution of its multiple isoforms involved in cellular adhesion of normal and malignant epithelial cells. J Cell Sci. 2002 Apr 1; 115(Pt 7):1391-402. PMID: 11896187.

Citations:
Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, Kanaan M, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol. 2002 Apr; 46(4):510-6. PMID: 11907499.

Citations:
Uitto J. Searching for clues to premature aging. Trends Mol Med. 2002 Apr; 8(4):155-7. PMID: 11927268.

Citations:
Mahoney MG, Simpson A, Jost M, Noé M, Kari C, Pepe D, Choi YW, Uitto J, Rodeck U. Metastasis-associated protein (MTA)1 enhances migration, invasion, and anchorage-independent survival of immortalized human keratinocytes. Oncogene. 2002 Mar 28; 21(14):2161-70. PMID: 11948399.

Citations:
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. 2002 May; 70(5):1341-8. PMID: 11912510.

Citations:
Nakano A, Nakano H, Hanada K, Nomura K, Uitto J. ZNT4 gene is not responsible for acrodermatitis enteropathica in Japanese families. Hum Genet. 2002 Feb; 110(2):201-2. PMID: 11935329.

Citations:
Korang K, Ghohestani R, Krieg T, Uitto J, Hunzelmann N. Exacerbation of pemphigus foliaceus after tetanus vaccination accompanied by synthesis of auto-antibodies against paraneoplastic pemphigus antigens. Acta Derm Venereol. 2002; 82(6):482-3. PMID: 12575868.

Citations:
Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfendner E, Uitto J. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet. 2002 Jan; 110(1):41-51. PMID: 11810295.

Citations:

Year	Publications
2001	1
2002	15
2003	15
2004	13
2005	12
2006	12
2007	22
2008	18
2009	12
2010	15
2011	18
2012	26
2013	23
2014	10
2015	16
2016	24
2017	17
2018	23
2019	15
2020	22
2021	18
2022	22
2023	2
2024	3

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