Below are the most recent publications written about "Epidermolysis Bullosa, Junctional" by people in Profiles.
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Tartaglia G, Park PH, Alexander MH, Nystr?m A, Rosenbloom J, South AP. Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa. Biomolecules. 2023 04 25; 13(5).
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Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, Harper N, Heagerty A, Ogboli M, Chiswell C, Moss C. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol. 2022 05; 186(5):843-848.
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Prodinger C, Chottianchaiwat S, Mellerio JE, McGrath JA, Ozoemena L, Liu L, Moore W, Laimer M, Petrof G, Martinez AE. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review. Pediatr Dermatol. 2021 Sep; 38(5):1094-1101.
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Hou PC, Natsuga K, Tu WT, Huang HY, Chen B, Chen LY, Chen WR, Hong YK, Tang YA, Lee JY, Chen PC, Sun HS, McGrath JA, Hsu CK. Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations. Acta Derm Venereol. 2021 Aug 24; 101(8):adv00522.
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Hou PC, Tu WT, Chen PC, Guevara BEK, Yen YF, Huang HY, Lee JY, Tang MJ, Kuo PL, Mcgrath JA, Hsu CK. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa. Eur J Dermatol. 2021 Apr 01; 31(2):267-269.
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Pasichow KP, Frizzola M, Miller EG. Palliative Sedation with Oral Medicines in an Infant with Generalized Severe Junctional Epidermolysis Bullosa. J Palliat Med. 2018 07; 21(7):1048-1052.
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Barzegar M, Asadi-Kani Z, Mozafari N, Vahidnezhad H, Kariminejad A, Toossi P. Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran. Int J Dermatol. 2015 Oct; 54(10):e416-23.
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Has C, Kiritsi D, Mellerio JE, Franzke CW, Wedgeworth E, Tantcheva-Poor I, Kernland-Lang K, Itin P, Simpson MA, Dopping-Hepenstal PJ, Fujimoto W, McGrath JA, Bruckner-Tuderman L. The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome. J Invest Dermatol. 2014 Mar; 134(3):845-849.
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Frew JW, Dopping-Hepenstal PJ, McGrath JA. Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator. Australas J Dermatol. 2010 Aug; 51(3):212-4.
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Salvestrini C, McGrath JA, Ozoemena L, Husain K, Buhamrah E, Sabery N, Leichtner A, Rufo PA, Perez-Atayde A, Orteu CH, Torrente F, Heuschkel RB, Thomson MA, Murch SH. Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. J Pediatr Gastroenterol Nutr. 2008 Nov; 47(5):585-91.