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
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F et al.
Clinical Genetics, 2020
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
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
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
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
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