Results 111 to 120 of about 2,415 (163)

Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families. [PDF]

Front Med (Lausanne)
Kotalevskaya YY, Stepanov VA.
europepmc   +1 more source

Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.

JAMA Dermatol, 2022
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ.   +17 more
europepmc   +1 more source

Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report. [PDF]

Exp Ther Med
Liu L, Lu Q, Luo H, Yu C.
europepmc   +1 more source

Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex. [PDF]

Med J Islam Repub Iran, 2020
Khani P, Farokh Forghani S, Ataei Kachoei Z, Zekri A, Ghazi F.   +4 more
europepmc   +1 more source

Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells. [PDF]

Mol Ther
Cattaneo C, Enzo E, De Rosa L, Sercia L, Consiglio F, Forcato M, Bicciato S, Paiardini A, Basso G, Tagliafico E, Paganelli A, Fiorentini C, Magnoni C, Latella MC, De Luca M.   +14 more
europepmc   +1 more source

A cell-based drug discovery assay identifies inhibition of cell stress responses as a new approach to treatment of epidermolysis bullosa simplex.

J Cell Sci, 2021
Tan TS, Common JEA, Lim JSY, Badowski C, Firdaus MJ, Leonardi SS, Lane EB.   +6 more
europepmc   +1 more source

Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy. [PDF]

JAAD Case Rep, 2019
Grilletta EA.
europepmc   +1 more source

Localized epidermolysis bullosa simplex [PDF]

, 2020
openaire   +1 more source

Epidermolysis bullosa simplex superficialis [PDF]

, 2020
openaire   +1 more source

Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population. [PDF]

Exp Ther Med, 2019
Zhang J, Ding Y, Li M, Yao Z, Zhuang Y.
europepmc   +1 more source