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Article

A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

PLoS genetics - 1 Mar 2017

Bauer Anina, Waluk Dominik P, Galichet Arnaud, Timm Katrin, Jagannathan Vidhya, Sayar Beyza S, Wiener Dominique J, Dietschi Elisabeth, Müller Eliane J, Roosje Petra, Welle Monika M, Leeb Tosso

Abstract excerpt

Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28249031
DOI: 10.1371/journal.pgen.1006651
PMCID: PMC5352138

Genes

ASPRV1
FLG

Variants

Provenance

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A de novo variant in the ASPRV1 gene in a dog with ichthyosis.PMID 28249031Read ↗

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.Semantic proximity Read ↗

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.Semantic proximity Read ↗

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Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.Semantic proximity Read ↗

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