Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S11_FC_Founder_variants_
Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases.
Li P et al.
Current Opinion in Cell Biology, 2023
Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations.
Bchetnia M et al.
Stem Cell Research, 2022
Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.
Evtushenko NA et al.
International Journal of Molecular Sciences, 2021
Genetic burden linked to founder effects in Saguenay-Lac-Saint-Jean illustrates the importance of genetic screening test availability.
Bchetnia M et al.
Journal of Medical Genetics, 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
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
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
29784039 (PubMed )
Supplement: 40246_2018_158_MOESM2_ESM.xlsx › K10
Expression signature of epidermolysis bullosa simplex.
Bchetnia M et al.
Human Genetics, 2012
Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
Rugg EL et al.
The Journal of Investigative Dermatology, 2007
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