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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Vahidnezhad H, Youssefian L, Anbardar MH, Zeinali S, Farahani RA, Uitto J. Very-Early-Onset Inflammatory Bowel Disease in a Patient With Junctional Epidermolysis Bullosa With a Homozygous Mutation in the a6 Integrin Gene (ITGA6). Inflamm Bowel Dis. 2021 10 20; 27(11):1865-1869.
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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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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. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018 10; 39(10):1349-1354.
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Lincoln V, Cogan J, Hou Y, Hirsch M, Hao M, Alexeev V, De Luca M, De Rosa L, Bauer JW, Woodley DT, Chen M. Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa. Proc Natl Acad Sci U S A. 2018 07 10; 115(28):E6536-E6545.
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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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Meester I, Igoucheva O, Alexeev V, South A, Moreno-Trevi?o MG, Salas-Alanis JC. High concordance between clinical diagnosis of epidermolysis bullosa and immunofluorescence with a small, well-matched antibody panel. Australas J Dermatol. 2018 Feb; 59(1):73-76.