Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
HMCN1 variants aggravate epidermolysis bullosa simplex phenotype.
Bergson S et al.
The Journal of Experimental Medicine, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex.
Banner L et al.
Clinical and Experimental Dermatology, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
PDigenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family.
Riahi K et al.
Cell Journal, 2021
Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.
Zhang W et al.
Frontiers in Chemistry, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Severe epidermolysis bullosa simplex phenotype caused by codominant mutations p.Ile377Thr in keratin 14 and p.Gly138Glu in keratin 5.
Bchetnia M et al.
Experimental Dermatology, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.
Kim E et al.
The British Journal of Dermatology, 2017
Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex.
Wertheim-Tysarowska K et al.
The British Journal of Dermatology, 2014
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
Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
Yiasemides E et al.
Clinical and Experimental Dermatology, 2008
A mutation in exon 1 of keratin 14 resulting in a Chinese family with epidermolysis bullosa simplex Dowling-Meara.
Li XL et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2007
Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.
Has C et al.
The Journal of Investigative 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
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
Abu Sa'd J et al.
The Journal of Investigative Dermatology, 2006