A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
March 2006
in “
Journal of Medical Genetics
”
Research cited in this study
7 / 7 resultsresearch Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research The Keratins and Their Disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed
The ventral matrix is the main source of the nail plate.
research ‘Hard’ and ‘soft’ principles defining the structure, function and regulation of keratin intermediate filaments
research The Catalog of Human Hair Keratins
Human hair keratins were cataloged, showing their roles in hair differentiation stages.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
research The Catalog of Human Hair Keratins
Human hair is made up of different keratins, some strong and some weak, with specific types appearing at various stages of hair growth.