Below are the most recent publications written about "Epidermolysis Bullosa Simplex" by people in Profiles.
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Banner L, Cohen A, McGrath L, Nikbakht N, South AP. A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex. Clin Exp Dermatol. 2023 03 22; 48(4):431-433.
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Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J. Mutation update: The spectra of PLEC sequence variants and related plectinopathies. Hum Mutat. 2022 12; 43(12):1706-1731.
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Lin YC, Tu WT, Hou PC, Huang HY, Chen PC, Chang CH, Lee JY, McGrath JA, Hsu CK. Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies. J Dermatol. 2022 08; 49(8):e283-e284.
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Khalesi R, Harvey N, Garshasbi M, Kalamati E, Youssefian L, Vahidnezhad H, Uitto J. Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI). Exp Dermatol. 2022 06; 31(6):949-955.
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Wen D, Balacco DL, Bardhan A, Harper N, Walsh D, Ryan G, Liu L, Guy A, McGrath JA, Ogboli M, Heagerty AHM. Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1). Clin Exp Dermatol. 2022 Feb; 47(2):497-502.
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Bare Y, Chan GK, Hayday T, McGrath JA, Parsons M. Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration. J Invest Dermatol. 2021 03; 141(3):523-532.e2.
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Tu WT, Chen PC, Hou PC, Huang HY, Wang JY, Chao SC, Lee JY, McGrath JA, Natsuga K, Hsu CK. Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex. Acta Derm Venereol. 2020 Aug 18; 100(15):adv00242.
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Vahidnezhad H, Youssefian L, Daneshpazhooh M, Mahmoudi H, Kariminejad A, Fischer J, Christiansen J, Schneider H, Guy A, Liu L, McGrath JA, Has C, Uitto J. Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out". Matrix Biol. 2019 10; 83:48-59.
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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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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.