Associated Papers
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 insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 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
Next-generation variant exon screening: Moving forward in routine genetic disease investigations.
Wang C et al.
Genetics in Medicine Open, 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
A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma.
Yoshikawa T et al.
Journal of Dermatological Science, 2020
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
Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma.
Fukunaga Y et al.
The Journal of Dermatology, 2018
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
Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
Wang P et al.
Cancer Genetics, 2016
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
Guo Y et al.
Genetics and Molecular Research : Gmr, 2014
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
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 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
Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis.
Makino T et al.
The Journal of Dermatology, 2012
Vörner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation.
Umegaki N et al.
The British Journal of Dermatology, 2011
Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
Shimomura Y et al.
Clinical and Experimental Dermatology, 2010
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
Birkenhäger R et al.
American Journal of Medical Genetics. Part A, 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
A de novo missense mutation in the keratin 13 gene in oral white sponge naevus.
Nishizawa A et al.
The British Journal of Dermatology, 2008
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
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression.
Codispoti A et al.
European Journal of Dermatology : Ejd, 0
Missense mutation of keratin 9 (c.487C>T (p.R163W) in southern Chinese patients with epidermolytic palmoplantar keratoderma.
Xu CM et al.
European Journal of Dermatology : Ejd, 0
Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
Lopez-Valdez J et al.
Pediatric Dermatology, 0