Associated Papers
The p.Asn176Ser Variant of KRT5 at the Heptad "e" Position of the Helix Initiation Motif Causes Severe Epidermolysis Bullosa Simplex.
Hashimoto T et al.
The Journal of Dermatology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
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
Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.
Mao B et al.
The Journal of Dermatology, 2018
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
[Mutation analysis and prenatal diagnosis of keratin 9 gene in a large Chinese family with epidermolytic palmoplantar keratoderma].
Liu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
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
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
Zhao JJ et al.
International Journal of Dermatology, 2008
Familial palmoplantar keratoderma: not always hereditary.
Khamaysi Z et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads.
Chiu HC et al.
Journal of Dermatological Science, 2007
Identification of the keratin 9 (KRT9) N161S mutation in a Chinese kindred with epidermolytic palmoplantar keratoderma.
Feng W et al.
European Journal of Dermatology : Ejd, 0