Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.K59*
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CDSN

NM_001264.5:p.K59*

Associated Papers

A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.

Chen Y et al.

The Journal of Dermatology, 2025

The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions.

Haftek M et al.

International Journal of Molecular Sciences, 2022

Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.

van der Velden JJAJ et al.

The Journal of Dermatology, 2020

Increased expression of caspase-1 and interleukin-18 in peeling skin disease, and a novel mutation of corneodesmosin.

Valentin F et al.

Acta Dermato-venereologica, 2015

Inherited desmosomal disorders.

Samuelov L et al.

Cell and Tissue Research, 2015

Alu-mediated large deletion of the CDSN gene as a cause of peeling skin disease.

Wada T et al.

Clinical Genetics, 2014

A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.

Kawakami H et al.

Case Reports in Dermatology, 2014

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B.

Mallet A et al.

The British Journal of Dermatology, 2013

Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

Telem DF et al.

Archives of Dermatological Research, 2012

Congenital hair loss disorders: rare, but not too rare.

Shimomura Y

The Journal of Dermatology, 2012

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco.

Mazereeuw-Hautier J et al.

The British Journal of Dermatology, 2011

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin.

Israeli S et al.

The Journal of Investigative Dermatology, 2011

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

Oji V et al.

American Journal of Human Genetics, 2010

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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."