Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.Y239*
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CDSN

NM_001264.5:p.Y239*

Associated Papers

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

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 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 novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family.

Yang SX et al.

Clinical and Experimental Dermatology, 2014

[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].

Huang XS et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012

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

Shimomura Y

The Journal of Dermatology, 2012

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

Caubet C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

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

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp.

Dávalos NO et al.

The British Journal of Dermatology, 2005

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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."