Associated Papers
Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.
Guo R et al.
Scientific Reports, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.
Yu Y et al.
The Australasian Journal of Dermatology, 2020
Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex.
Khani P et al.
Medical Journal of the Islamic Republic of Iran, 2020
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Unknown Author
Pediatric Dermatology, 2018
Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
Elango T et al.
Human Genomics, 2018
[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].
Meng L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.
Banerjee S et al.
Oncotarget, 2016
Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K et al.
Journal of Applied Genetics, 2016
A Sporadic Neonatal Case of Epidermolysis Bullosa Simplex Generalized Intermediate with KRT5 and KRT14 Gene Mutations.
Wakiguchi H et al.
Ajp Reports, 2016
Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.
Mirza H et al.
The Journal of Investigative Dermatology, 2015
Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.
Minakawa S et al.
Journal of Dermatological Science, 2013
Digenic inheritance in epidermolysis bullosa simplex.
Padalon-Brauch G et al.
The Journal of Investigative Dermatology, 2012
Consequences of two different amino-acid substitutions at the same codon in KRT14 indicate definitive roles of structural distortion in epidermolysis bullosa simplex pathogenesis.
Natsuga K et al.
The Journal of Investigative Dermatology, 2011
The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex.
Murrell DF et al.
The Journal of Investigative Dermatology, 2011
A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
van Steensel MA et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2010
Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang TW et al.
Journal of Dermatological Science, 2010
Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.
Ołdak M et al.
Journal of Dermatological Science, 2010
A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutation.
Hattori N et al.
The British Journal of Dermatology, 2006
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K et al.
The British Journal of Dermatology, 2006
A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.
He XH et al.
The British Journal of Dermatology, 2004
Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
Chao SC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2002