Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.Q434*
Back to variants list

KRT10

NM_000421.5:p.Q434*

Associated Papers

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location.

Vodo D et al.

Clinical and Experimental Dermatology, 2018

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

Gutierrez JA et al.

Molecular Genetics & Genomic Medicine, 2013

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

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.

Covaciu C et al.

The British Journal of Dermatology, 2010

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene.

Terheyden P et al.

The Journal of Investigative Dermatology, 2009

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.

Tsubota A et al.

The Journal of Investigative Dermatology, 2008

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.

Müller FB et al.

Human Molecular Genetics, 2006

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

Betlloch I et al.

Pediatric Dermatology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."