A Missense Mutation Within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

    September 2017 in “ Journal of Investigative Dermatology ”
    Xia Yu, Chen Fu-yin, Cheng Ni … Ming Li
    Studysummary A mutation in the KRT25 gene causes woolly hair and hair loss.
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    Research cited in this study 13

    1. Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles Journal of Investigative Dermatology · 2016
    2. Hair Follicle Miniaturization in a Woolly Hair Nevus American Journal of Dermatopathology · 2016
    3. Twelve-Point Scale Grading System of Scanning Electron Microscopic Examination to Investigate Subtle Changes in Damaged Hair Surface Skin research and technology · 2016
    4. Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75 Journal of Investigative Dermatology · 2015
    5. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    6. Keratins: The Hair Shaft's Backbone Revealed Experimental Dermatology · 2015
    7. The Twisting Tale of Woolly Hair: A Trait with Many Causes Journal of medical genetics · 2015
    8. A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012
    9. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    10. Development of a Classification System for Extrinsic Hair Damage: Standard Grading of Electron Microscopic Findings of Damaged Hairs ˜The œAmerican journal of dermatopathology/American journal of dermatopathology · 2010
    11. Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament Genomics · 2007
    12. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    13. An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae Journal of Investigative Dermatology · 2004