Varaico: Literature-Extracted Genetic Variants

Gene:ST14
Variant:p.M1I
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ST14

NM_021978.4:p.M1I

Associated Papers

Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.

Rasheed M et al.

Archives of Dermatological Research, 2017

A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome.

Bauer A et al.

G3 (bethesda, Md.), 2017

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.

Neri I et al.

Journal of Dermatological Science, 2016

Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes.

Chen YW et al.

The Journal of Investigative Dermatology, 2014

Epithelial integrity is maintained by a matriptase-dependent proteolytic pathway.

List K et al.

The American Journal of Pathology, 2009

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

Alef T et al.

The Journal of Investigative Dermatology, 2009

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Avrahami L et al.

Clinical Genetics, 2008

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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."