Associated Papers
The p.Asn176Ser Variant of KRT5 at the Heptad "e" Position of the Helix Initiation Motif Causes Severe Epidermolysis Bullosa Simplex.
Hashimoto T et al.
The Journal of Dermatology, 2025
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.
Frommherz L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025
De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.
Ge M et al.
Dna and Cell Biology, 2023
Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
Ansai O et al.
Clinical and Experimental Dermatology, 2023
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Diociaiuti A et al.
International Journal of Molecular Sciences, 2020
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
Calì F et al.
Dermatology Online Journal, 2020
Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
Smith FJD et al.
Clinical and Experimental Dermatology, 2019
High-efficiency RNA-based reprogramming of human primary fibroblasts.
Kogut I et al.
Nature Communications, 2018
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.
Arin MJ et al.
The British Journal of Dermatology, 2011
Two families with Greither's syndrome caused by a keratin 1 mutation.
Gach JE et al.
Journal of the American Academy of Dermatology, 2005
A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
Uezato H et al.
The Journal of Dermatology, 2005
Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
Terron-Kwiatkowski A et al.
The Journal of Investigative Dermatology, 2002
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
Whittock NV et al.
The British Journal of Dermatology, 2001