Varaico: Literature-Extracted Genetic Variants

Gene:KRT9
Variant:p.M157T
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KRT9

NM_000226.4:p.M157T

Associated Papers

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.

Liu X et al.

Molecular Genetics & Genomic Medicine, 2019

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

Xiao H et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.

Li Y et al.

Frontiers in Genetics, 2018

A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.

Liang YH et al.

International Journal of Dermatology, 2014

Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder.

Leslie Pedrioli DM et al.

The Journal of Investigative Dermatology, 2012

The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.

Liu WT et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.

Shimomura Y et al.

Clinical and Experimental Dermatology, 2010

Prenatal diagnosis of epidermolytic palmoplantar keratoderma caused by c.T470C (p.M157T) of the keratin 9 gene in a Chinese kindred.

Chen XL et al.

Prenatal Diagnosis, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.

Zhao JJ et al.

International Journal of Dermatology, 2008

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