Results 131 to 140 of about 1,421 (196)

Post zygotic, somatic, deletion in KERATIN 1 V1 domain generates structural alteration of the K1/K10 dimer, producing a monolateral palmar epidermolytic nevus [PDF]

, 2021
Bernardini S, Campione E, Caporali S, Didona B, Falconi M, Iacovelli F, Mauriello A, Minieri M, Paradisi M, Pieri M, Terrinoni A   +10 more
core   +1 more source

A Novel Dinucleotide Mutation in Keratin 10 in the Annular Epidermolytic Ichthyosis Variant of Bullous Congenital Ichthyosiform Erythroderma

, 1997
Gwang-Yeol Joh, Heiko Traupe, Dieter Metze, Dorothée Nashan, Marcel Huber, Daniel Hohl, Mary A. Longley, Joseph A. Rothnagel, Dennis R. Roop   +8 more
openalex   +1 more source

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis. [PDF]

Pediatr Dermatol, 2018
Zaki TD, Yoo KY, Kassardjian M, Choate KA.   +3 more
europepmc   +1 more source

Developing an optimised TALEN-mediated ex vivo gene therapy for epidermolytic ichthyosis [PDF]

, 2016
Onp March, Magomet Aushev, Ulrich Koller, Julia Reichelt   +3 more
openalex  

Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epidermolytic Ichthyosis

, 2016
M. Severino‐Freire, Nathalie Jonca, Mélanie Pichery, É. Tournier, Nicolas Chassaing, J. Mazereeuw‐Hautier   +5 more
openalex   +2 more sources

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis [PDF]

, 2015
Haris Mirza, Anil Kumar, Brittany G. Craiglow, Jing Zhou, Corey Saraceni, Richard L. Torbeck, Bruce D. Ragsdale, Paul A. Rehder, Annamari Ranki, Keith A. Choate   +9 more
openalex   +1 more source

Epidermolytic hyperkeratosis symptomcomplex in patients with bullous congenital ichthyosiform erythroderma and ichthyosis hystrix

, 2000
Е. К. Захарова, Z M Getling, A. M. Vavilov, V. N. Mordovtsev   +3 more
openalex   +1 more source

534 TALEN-mediated gene editing of keratinocyte stem cells for a novel e x vivo epidermolytic ichthyosis therapy [PDF]

, 2017
Oliver Patrick March, Magomet Aushev, Ulrich Koller, Julia Reichelt   +3 more
openalex   +1 more source

Heterozygous ASPRV1 frameshift variant in a Pembroke Welsh Corgi with ichthyosis. [PDF]

Blatter, Sohvi, Cikota, Robert, Cvitas, Iva, Jagannathan, Vidhya, Kiener, Sarah, Leeb, Tosso, Soto, Sara, Åhman, Susanne   +7 more
core   +1 more source

A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis. [PDF]

Mol Genet Genomic Med, 2013
Gutierrez JA, Hannoush ZC, Vargas LG, Momany A, Garcia CC, Murray JC, Dunnwald M.   +6 more
europepmc   +1 more source