Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.I140insFs
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KRT5

NM_000424.4:p.I140insFs

Associated Papers

Beneath the surface: delineating the subtypes of Dowling-Degos disease.

Kumar S et al.

The British Journal of Dermatology, 2025

Galli-Galli Disease: A Comprehensive Literature Review.

Michelerio A et al.

Dermatopathology (basel, Switzerland), 2024

Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease.

Kumar S et al.

The Journal of Investigative Dermatology, 2024

KRT5 mutation regulate melanin metabolism through notch signalling pathway between keratinocytes and melanocytes.

Jia W et al.

Experimental Dermatology, 2023

Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.

Yang A et al.

The American Journal of Dermatopathology, 2020

Confirmation of the role of a KRT5 mutation and successful management of skin lesions in a patient with Galli-Galli disease.

Lőrincz K et al.

Clinical and Experimental Dermatology, 2018

Dowling-Degos disease with mutation in the exon 1 of the keratin 5 gene.

Yu W et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.

Verma S et al.

Indian Journal of Dermatology, 2014

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.

Arnold AW et al.

The Journal of Investigative Dermatology, 2012

Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.

Schmieder A et al.

Journal of the American Academy of Dermatology, 2012

Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.

Arnold AW et al.

Dermatology (basel, Switzerland), 2012

Efficacy of ablative laser treatment in Galli-Galli disease.

Voth H et al.

Archives of Dermatology, 2011

Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.

Hanneken S et al.

The British Journal of Dermatology, 2010

A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.

Liao H et al.

The Journal of Investigative Dermatology, 2007

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

Betz RC et al.

American Journal of Human Genetics, 2006

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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."