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Jouni Uitto

TitleProfessor & Chair JMC
InstitutionThomas Jefferson University
DepartmentChair SKMC
Address233 S. 10th Street
Philadelphia PA 19107
Phone215-503-5785
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    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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    1. 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.
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    2. 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.
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    3. 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.
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    4. 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.
      View in: PubMed
    5. 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.
      View in: PubMed
    6. 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.
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    7. 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.
      View in: PubMed
    8. Uitto J. The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa. J Invest Dermatol. 2017 Dec 16. PMID: 29258894.
      View in: PubMed
    9. 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.
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    10. 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.
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    11. 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.
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    12. 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.
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    13. 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.
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    14. 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.
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    15. 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.
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    16. 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.
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    17. 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.
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    18. 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.
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    19. 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.
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    20. 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.
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    21. 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.
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    22. 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.
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    23. 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.
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    24. 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.
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    25. 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.
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    26. 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.
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    27. Tamai K, Uitto J. Stem Cell Therapy for Epidermolysis Bullosa-Does It Work? J Invest Dermatol. 2016 Nov; 136(11):2119-2121. PMID: 27772543.
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    28. 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.
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    29. 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.
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    30. 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.
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    31. 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.
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    32. 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.
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    33. 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.
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    34. 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.
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    35. 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.
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    36. 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.
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    37. 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.
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    38. 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.
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    39. 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.
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    40. 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.
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    41. 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.
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    42. 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.
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    43. 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.
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    44. 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.
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    45. 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.
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    46. 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.
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    47. 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.
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    48. 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.
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    49. 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.
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    50. 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.
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    51. 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.
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    52. 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.
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    53. 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.
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    54. 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.
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    55. 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.
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    56. 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.
      View in: PubMed
    57. 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.
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    58. 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.
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    59. 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.
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    60. 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.
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    61. 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.
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    62. 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.
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    63. 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.
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    64. 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.
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    65. 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.
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    66. 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.
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    67. 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.
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    68. 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.
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    69. 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.
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    70. 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.
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    71. 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.
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    72. 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.
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    73. 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.
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    74. 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.
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    75. 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.
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    76. 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.
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    77. Uitto J. The benefits of international postdoctoral research fellowships: a personal perspective. J Invest Dermatol. 2013 Oct; 133(10):2301-2. PMID: 24030641.
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    78. 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.
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    79. 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.
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    86. 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.
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    89. 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.
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    90. 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.
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    91. 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.
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    92. 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.
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    93. 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.
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    94. 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.
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    95. 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.
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    96. 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.
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    97. Li Q, Uitto J. Zebrafish as a model system to study heritable skin diseases. Methods Mol Biol. 2013; 961:411-24. PMID: 23325661.
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    99. Uitto J. Milestones in genetics of structural skin disorders. J Invest Dermatol. 2012; 132(E1):E1. PMID: 23154623.
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    101. Uitto J. Molecular therapeutics for heritable skin diseases. J Invest Dermatol. 2012; 132(E1):E29-34. PMID: 23154630.
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    102. 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.
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    103. Uitto J. Rare heritable skin diseases: targets for regenerative medicine. J Invest Dermatol. 2012 Nov; 132(11):2485-8. PMID: 23069901.
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    104. 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.
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    105. Uitto J. Milestones in Genetics of Structural Skin Disorders. J Invest Dermatol. 2012 Nov; 132 Suppl 3:E1. PMID: 26875433.
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    106. Uitto J. Molecular Therapeutics for Heritable Skin Diseases. J Invest Dermatol. 2012 Nov; 132 Suppl 3:E29-34. PMID: 26875440.
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    107. 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.
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    108. 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.
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    109. 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.
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    110. 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.
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    111. 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.
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    112. 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.
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    113. 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.
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    114. 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.
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    115. 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.
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    116. 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.
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    117. 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.
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    118. 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.
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    119. 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.
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    120. 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.
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    121. 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.
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    122. 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.
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    123. 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.
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    124. 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.
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    125. 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.
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    126. 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.
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    127. 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.
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    128. 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.
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    129. Uitto J. Cell-based therapy for RDEB: how does it work? J Invest Dermatol. 2011 Aug; 131(8):1597-9. PMID: 21753764.
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    131. 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.
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    132. 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.
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    133. 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.
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    134. 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.
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    135. 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.
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    136. Uitto J. Regenerative medicine for skin diseases: iPS cells to the rescue. J Invest Dermatol. 2011 Apr; 131(4):812-4. PMID: 21407233.
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    137. 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.
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    138. 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.
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    139. 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.
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    140. 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.
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    141. 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.
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    142. 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.
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    143. 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.
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    144. 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.
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    145. 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.
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    146. 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.
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    147. 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.
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    148. 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.
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    149. 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.
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    150. 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.
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    151. 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.
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    152. 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.
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    153. 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.
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    154. 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.
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    155. Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010 Jan; 28(1):43-54. PMID: 19945615.
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    156. 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.
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    157. Uitto J, Li Q, Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010 Mar; 130(3):661-70. PMID: 20032990.
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    158. 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.
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    159. 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.
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    160. 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.
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    161. 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.
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    162. 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.
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    163. 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.
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    164. Tamai K, Kaneda Y, Uitto J. Molecular therapies for heritable blistering diseases. Trends Mol Med. 2009 Jul; 15(7):285-92. PMID: 19581127.
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    165. 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.
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    166. 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.
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    168. Uitto J. Phenotypic complexity of epidermolysis bullosa: the paradigm of the pruriginosa subtype. Acta Derm Venereol. 2009; 89(1):4-5. PMID: 19209409.
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    169. 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.
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    170. 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.
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    171. 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.
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    172. 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.
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    173. 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.
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    174. 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.
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    175. Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J Invest Dermatol. 2008 Sep; 128(9):2140-2. PMID: 18695685.
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    264. 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.
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    265. 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.
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    266. 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.
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    267. Uitto J. Searching for clues to premature aging. Trends Endocrinol Metab. 2002 May-Jun; 13(4):140-1. PMID: 11943554.
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    268. 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.
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    269. 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.
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    270. 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.
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    271. Uitto J. Searching for clues to premature aging. Trends Mol Med. 2002 Apr; 8(4):155-7. PMID: 11927268.
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    272. 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.
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    273. 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.
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    274. 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.
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    275. 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.
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    276. 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.
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