Results 111 to 120 of about 2,763 (196)

Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa. [PDF]

Biomolecules, 2023
Tartaglia G, Park PH, Alexander MH, Nyström A, Rosenbloom J, South AP.   +5 more
europepmc   +1 more source

A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa. [PDF]

Int J Mol Sci, 2023
Zwicklhuber J, Kocher T, Liemberger B, Hainzl S, Bischof J, Strunk D, Raninger AM, Gratz I, Wally V, Guttmann-Gruber C, Hofbauer JP, Bauer JW, Koller U.   +12 more
europepmc   +1 more source

PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family. [PDF]

Cell J, 2021
Riahi K, Ghanbari Mardasi F, Talebi F, Jasemi F, Mohammadi Asl J.   +4 more
europepmc   +1 more source

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. [PDF]

Clin Case Rep, 2023
Amato ME, Ricart S, Vicente MA, Martorell L, Armstrong J, Fernández Isern G, Mascaro JM, Balsells S, Alonso I, Serrano M, Ortigoza-Escobar JD.   +10 more
europepmc   +1 more source

A Case of Neonatal Junctional Epidermolysis Bullosa With a LAMB3 Mutation: Diagnostic Journey and Interdisciplinary Management. [PDF]

Case Rep Pediatr
Tete PI, D S A, Rafi M, B J S.
europepmc   +1 more source

COL17A1 editing via homology-directed repair in junctional epidermolysis bullosa. [PDF]

Front Med (Lausanne), 2022
Petković I, Bischof J, Kocher T, March OP, Liemberger B, Hainzl S, Strunk D, Raninger AM, Binder HM, Reichelt J, Guttmann-Gruber C, Wally V, Piñón Hofbauer J, Bauer JW, Koller U.   +14 more
europepmc   +1 more source

Case Report: Two neonatal cases of genetically confirmed junctional epidermolysis bullosa in a tertiary care center. [PDF]

Front Pediatr
Hammoud M, Youssef S, Khoury DM, Jbahi M, Dghaily A, Yamout S, Bdeir R, Mchad S, Kurban M, Akel S.   +9 more
europepmc   +1 more source

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle. [PDF]

Genet Sel Evol, 2023
Boussaha M, Boulling A, Wolgust V, Bourgeois-Brunel L, Michot P, Grohs C, Gaiani N, Grivaud PY, Leclerc H, Danchin-Burge C, Vilotte M, Rivière J, Boichard D, Gourreau JM, Capitan A.   +14 more
europepmc   +1 more source

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection. [PDF]

Cureus, 2023
Rehman A, Raza H, Zia BF, Farahi F, Asher Syed M.   +4 more
europepmc   +1 more source

Novel frameshift variant in exon 7 of <i>COL17A1</i> in a domestic shorthair kitten with junctional epidermolysis bullosa. [PDF]

J Vet Diagn Invest
Fussell D, Leber M, Vandewege MW, Stern JA, Meurs KM, Armwood AR, Herrmann I.   +6 more
europepmc   +1 more source