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694 results

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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: mcgrath ja. Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18. Matrix Biol. 2019. PMID: 30463024 Free article.
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
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. Vahidnezhad H, et al. Among authors: mcgrath ja. Matrix Biol. 2018 Mar;66:22-33. doi: 10.1016/j.matbio.2017.11.003. Epub 2017 Nov 11. Matrix Biol. 2018. PMID: 29138120
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. Vahidnezhad H, et al. Among authors: mcgrath ja. Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3. Hum Mutat. 2018. PMID: 30016581
Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: mcgrath ja. Matrix Biol. 2021 May;99:43-57. doi: 10.1016/j.matbio.2021.05.002. Epub 2021 May 15. Matrix Biol. 2021. PMID: 34004352
Restoring type VII collagen in skin.
Lwin SM, McGrath JA. Lwin SM, et al. Among authors: mcgrath ja. Med. 2022 May 13;3(5):273-275. doi: 10.1016/j.medj.2022.04.008. Epub 2022 May 13. Med. 2022. PMID: 35584643 Free article.
Progress in epidermolysis bullosa research: toward treatment and cure.
Uitto J, McGrath JA, Rodeck U, Bruckner-Tuderman L, Robinson EC. Uitto J, et al. Among authors: mcgrath ja. J Invest Dermatol. 2010 Jul;130(7):1778-84. doi: 10.1038/jid.2010.90. Epub 2010 Apr 15. J Invest Dermatol. 2010. PMID: 20393479 Free article. Review.
Animal models of epidermolysis bullosa: update 2010.
Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. Bruckner-Tuderman L, et al. Among authors: mcgrath ja. J Invest Dermatol. 2010 Jun;130(6):1485-8. doi: 10.1038/jid.2010.75. J Invest Dermatol. 2010. PMID: 20463671 Free article. No abstract available.
694 results