Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis [PDF]
Marie Virtanen+4 more
openalex +1 more source
A Case of Incidental Epidermolytic Hyperkeratosis Occurring Normal Looking Skin Adjacent to Folliculitic Papules: In Veterans Who Participated in Vietnam War [PDF]
S. Lee+3 more
openalex +1 more source
Mutations in the Non-Helical Linker Segment L1-2 of Keratin 5 in Patients with Weber-Cockayne Epidermolysis Bullosa Simplex [PDF]
Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins ...
Chan, Yiu-mo+7 more
core +1 more source
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
Felix B. Müller+8 more
openalex +1 more source
A Mouse Keratin 1 Mutation Causes Dark Skin and Epidermolytic Hyperkeratosis [PDF]
Kelly A. McGowan+4 more
openalex +1 more source
R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis [PDF]
Kunitaka HARUNA+7 more
openalex +1 more source
Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10 [PDF]
Baty, D.+5 more
core +2 more sources
Post zygotic, somatic, deletion in KERATIN 1 V1 domain generates structural alteration of the K1/K10 dimer, producing a monolateral palmar epidermolytic nevus [PDF]
Bernardini S+10 more
core +1 more source