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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. 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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    2. 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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    3. 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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    4. 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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    5. 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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    6. 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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    7. 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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    8. 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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    9. 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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    10. 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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    11. 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):1335-1344. PMID: 28160796.
      View in: PubMed
    12. 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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    13. 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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    14. 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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    15. 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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    16. 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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    17. 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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    18. 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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    19. 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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    20. 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. 2016 Jul 20. PMID: 27447569.
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    21. 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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    22. 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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    23. 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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    24. 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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    25. 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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    26. 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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    27. 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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    28. 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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    29. 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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    30. 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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    31. 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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    32. 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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    33. 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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    34. 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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    35. 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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    36. 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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    37. 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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    38. 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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    39. 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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    40. 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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    41. 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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    42. 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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    43. 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.
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    44. 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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    45. 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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    46. 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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    47. 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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    48. 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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    49. 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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    50. 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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    51. 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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    52. 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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    53. 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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    54. 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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    55. 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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    56. 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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    57. 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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    58. 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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    59. 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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    60. 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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    61. 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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    62. 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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    63. 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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    64. 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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    65. 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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    66. 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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    67. 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.
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    68. Uitto J. Heritable disorders of connective tissue: introduction to mini-review cluster. Matrix Biol. 2014 Jan; 33:8-9. PMID: 23891699.
      View in: PubMed
    69. 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.
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    70. 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.
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    71. 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.
      View in: PubMed
    72. 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.
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    73. 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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    74. 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.
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    75. 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.
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    76. 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.
      View in: PubMed
    77. 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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    78. 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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    79. 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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    80. 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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    81. 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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    82. 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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    83. 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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    84. 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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    96. 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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    98. 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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    99. 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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    100. 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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    101. 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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    102. 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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    103. 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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    104. 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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    105. 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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    106. 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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    108. 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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    109. 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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    110. 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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    111. 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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    112. 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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    113. 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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    114. 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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    115. 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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    116. 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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    118. 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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    119. 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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    120. 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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    121. 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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    122. 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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    123. 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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    125. 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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    127. 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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    128. 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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    129. 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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    132. 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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    133. 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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    135. 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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    136. 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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    137. 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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    139. 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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    141. 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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    142. Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010 Jan; 28(1):43-54. PMID: 19945615.
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    143. 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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    144. 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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    146. 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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    147. 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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    148. 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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    149. 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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    151. 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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    152. 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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    155. 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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    156. 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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    157. 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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    158. 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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    159. 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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    160. 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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    161. 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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    162. Uitto J. Epidermolysis bullosa: prospects for cell-based therapies. J Invest Dermatol. 2008 Sep; 128(9):2140-2. PMID: 18695685.
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    163. 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.
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    164. 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.
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    165. 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.
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    166. 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.
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    167. 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.
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    168. 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.
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    169. 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.
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    170. 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.
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    171. 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.
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    172. 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.
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    173. 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.
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    174. 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.
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    175. 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.
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    176. 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.
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    177. 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.
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    178. 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.
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    179. 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.
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    180. 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.
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    181. 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.
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    182. 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.
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    183. 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.
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    184. 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.
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    185. 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.
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    186. 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.
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    187. 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.
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    188. 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.
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    189. Featherstone C, Uitto J. Ex vivo gene therapy cures a blistering skin disease. Trends Mol Med. 2007 Jun; 13(6):219-22. PMID: 17416553.
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    190. 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.
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    191. Uitto J, Jiang Q. Pseudoxanthoma elasticum-like phenotypes: more diseases than one. J Invest Dermatol. 2007 Mar; 127(3):507-10. PMID: 17299431.
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    192. 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.
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    193. 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.
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    194. 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.
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    195. Uitto J. IL-6 signaling pathway in keloids: a target for pharmacologic intervention? J Invest Dermatol. 2007 Jan; 127(1):6-8. PMID: 17170717.
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    196. 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.
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    197. 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.
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    198. 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.
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    199. 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.
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    200. 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.
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    201. 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.
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    202. 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.
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    203. 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.
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    204. 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.
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    205. 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.
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    206. 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.
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    207. 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.
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    208. 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.
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    209. 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.
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    210. Uitto J. The Ehlers-Danlos syndrome--phenotypic spectrum and molecular genetics. Eur J Dermatol. 2005 Sep-Oct; 15(5):311-2. PMID: 16172036.
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    211. 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.
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    212. Uitto J. The gene family of ABC transporters--novel mutations, new phenotypes. Trends Mol Med. 2005 Aug; 11(8):341-3. PMID: 15996518.
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    213. 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.
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    214. 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.
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    215. Jiang QJ, Uitto J. Animal models of epidermolysis bullosa--targets for gene therapy. J Invest Dermatol. 2005 Mar; 124(3):xi-xiii. PMID: 15812910.
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    216. 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.
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    217. 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.
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    218. 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.
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    219. 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.
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    220. 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.
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    221. 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.
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    222. 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.
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    223. 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.
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    224. Uitto J. Epidermolysis bullosa: the expanding mutation database. J Invest Dermatol. 2004 Oct; 123(4):xii-xiii. PMID: 15373798.
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    225. 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.
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    226. 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.
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    227. 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.
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    228. Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004 Apr; 122(4):xii-xiii. PMID: 15102105.
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    229. 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.
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    230. 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.
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    231. 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.
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    232. 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.
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    233. 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.
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    234. 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.
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    235. 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.
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    236. 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.
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    237. 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.
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    238. 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.
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    239. 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.
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    240. 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.
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    241. 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.
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    242. 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.
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    243. 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.
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    244. 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.
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    245. 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.
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    246. 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.
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    247. 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.
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    248. 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.
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    249. 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.
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    250. 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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    251. 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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    252. 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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    253. Uitto J. Searching for clues to premature aging. Trends Endocrinol Metab. 2002 May-Jun; 13(4):140-1. PMID: 11943554.
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    254. 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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    255. 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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    256. 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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    257. Uitto J. Searching for clues to premature aging. Trends Mol Med. 2002 Apr; 8(4):155-7. PMID: 11927268.
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    258. 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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    259. 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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    260. 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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    261. 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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    262. 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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