A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair

    July 2015 in “ Journal of Medical Genetics ”
    Muhammad Ansar, Syed Irfan Raza, Kwanghyuk Lee … Suzanne M. Leal
    Studysummary This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
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    Research cited in this study 11

    1. The Twisting Tale of Woolly Hair: A Trait with Many Causes Journal of medical genetics · 2015
    2. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014
    3. Genetics of Structural Hair Disorders Journal of Investigative Dermatology · 2012
    4. The Chicken Frizzle Feather Is Due to an Alpha-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012
    5. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    6. Keratin Disorders: From Gene to Therapy Human molecular genetics online/Human molecular genetics · 2011
    7. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    8. Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament Genomics · 2007
    9. Three-Dimensional Modelling of Interchain Sequence Similarities and Differences in the Coiled-Coil Segments of Keratin Intermediate Filament Heterodimers Highlight Features Important in Assembly Journal of Structural Biology · 2007
    10. Mice Expressing a Mutant KRT75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita Journal of Investigative Dermatology · 2007
    11. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), And K28 (K25irs4) Represent The Type I Inner Root Sheath Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2006

    Related research 5

    1. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    2. Functional Analysis of Keratin Components in the Mouse Hair Follicle Inner Root Sheath British Journal of Dermatology · 2004
    3. In This Issue Journal of Investigative Dermatology · 2002
    4. A Novel Epithelial Keratin, hK6irs1, Is Expressed Differentially in All Layers of the Inner Root Sheath, Including Specialized Huxley Cells of the Human Hair Follicle Journal of Investigative Dermatology · 2002
    5. Expression Pattern of Human Hair Keratin Basic 1 (hHbl) in Hair Follicle and Pilomatricoma Experimental Dermatology · 1997