research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
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research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
research A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
This study identified a nonsense mutation in the zinc-finger domain of the hairless gene associated with congenital atrichia in a Japanese family, indicating a potential genetic cause for this rare form of alopecia.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
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