Associated Papers
K9 Hotspot Variant Disrupts Keratin Organization and Impairs NRF2-Mediated Oxidative Stress Regulation.
Cao Y et al.
The Journal of Investigative Dermatology, 2025
Under Pressure: A unique mechanoresponsive mechanism of body site-specific keratin regulation in palmoplantar epidermis.
Steiner SN et al.
Biorxiv : the Preprint Server for Biology, 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
Cohen syndrome coincident with epidermolytic palmoplantar keratoderma caused by novel KRT9 gene mutation: A rare case report.
Shu Y et al.
Asian Journal of Surgery, 2023
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.
Pietrzak A et al.
Orphanet Journal of Rare Diseases, 2022
Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients.
Harjama L et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2021
A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.
Yoshikawa T et al.
Journal of Dermatological Science, 2020
Exome sequencing identifies a KRT9 pathogenic variant in a Chinese pedigree with epidermolytic palmoplantar keratoderma.
Li C 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
KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
Ke HP et al.
Gene, 2014
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
[Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma].
Li YL et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.
Zhao JJ et al.
International Journal of Dermatology, 2008