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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: guy a. 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.
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: guy a. Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3. Hum Mutat. 2018. PMID: 30016581
Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Lwin SM, Syed F, Di WL, Kadiyirire T, Liu L, Guy A, Petrova A, Abdul-Wahab A, Reid F, Phillips R, Elstad M, Georgiadis C, Aristodemou S, Lovell PA, McMillan JR, Mee J, Miskinyte S, Titeux M, Ozoemena L, Pramanik R, Serrano S, Rowles R, Maurin C, Orrin E, Martinez-Queipo M, Rashidghamat E, Tziotzios C, Onoufriadis A, Chen M, Chan L, Farzaneh F, Del Rio M, Tolar J, Bauer JW, Larcher F, Antoniou MN, Hovnanian A, Thrasher AJ, Mellerio JE, Qasim W, McGrath JA. Lwin SM, et al. Among authors: guy a. JCI Insight. 2019 Jun 6;4(11):e126243. doi: 10.1172/jci.insight.126243. eCollection 2019 Jun 6. JCI Insight. 2019. PMID: 31167965 Free PMC article. Clinical Trial.
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 encoding basement membrane type VII collagen (C7), the main constituent of anchoring fibrils (AFs) in skin. We developed a self-inactiv …
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin fragility disorder due to mutations in COL7A1 en …
Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.
Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, Sheriff A, Scott W, Tierney C, Lee JYW, Gomaa NS, Desomchoke R, Lwin SM, Tu WT, Chen LY, Huang HY, Chao SC, Yu-Yun Lee J, Bare Y, Hayday T, Guy AL, Liu L, Lees C, Hirdler T, Lovell P, Xia L, Dayrit JF, Calonje E, Simpson MA, Tolar J, Parsons M, McGrath JA. Onoufriadis A, et al. Among authors: guy al. J Invest Dermatol. 2019 Dec;139(12):2550-2554.e9. doi: 10.1016/j.jid.2019.05.021. Epub 2019 Jun 19. J Invest Dermatol. 2019. PMID: 31226264 Free article. No abstract available.
Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Rashidghamat E, Kadiyirire T, Ayis S, Petrof G, Liu L, Pullabhatla V, Ainali C, Guy A, Aristodemou S, McMillan JR, Ozoemena L, Mee J, Pramanik R, Saxena A, Nuamah R, de Rinaldis E, Serrano S, Maurin C, Martinez-Queipo M, Lwin SM, Ilic D, Martinez A, Dazzi F, Slaper-Cortenbach I, Westinga K, Zeddies S, van den Broek M, Onoufriadis A, Mellerio JE, McGrath JA. Rashidghamat E, et al. Among authors: guy a. J Am Acad Dermatol. 2020 Aug;83(2):447-454. doi: 10.1016/j.jaad.2019.11.038. Epub 2019 Nov 28. J Am Acad Dermatol. 2020. PMID: 31786163 Free article. Clinical Trial.
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.
Onoufriadis A, Ahmed N, Bessar H, Guy A, Liu L, Marantzidis A, Kesidou E, Papanikolaou M, Simpson MA, Mellerio JE, Lee JYW, McGrath JA. Onoufriadis A, et al. Among authors: guy a. J Invest Dermatol. 2020 Jun;140(6):1285-1288. doi: 10.1016/j.jid.2019.10.015. Epub 2019 Nov 29. J Invest Dermatol. 2020. PMID: 31790667 Free article. No abstract available.
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Vahidnezhad H, Youssefian L, Faghankhani M, Mozafari N, Saeidian AH, Niaziorimi F, Abdollahimajd F, Sotoudeh S, Rajabi F, Mirsafaei L, Sani ZA, Liu L, Guy A, Zeinali S, Kariminejad A, Ho RT, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: guy a. Sci Rep. 2020 Dec 10;10(1):21622. doi: 10.1038/s41598-020-78344-9. Sci Rep. 2020. PMID: 33303784 Free PMC article.
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: guy a. Matrix Biol. 2021 May;99:43-57. doi: 10.1016/j.matbio.2021.05.002. Epub 2021 May 15. Matrix Biol. 2021. PMID: 34004352
485 results