A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

    May 2012 in “ Journal of Investigative Dermatology ”
    Atsushi Fujimoto, Muhammad Farooq, Hiroki Fujikawa … Yutaka Shimomura
    Studysummary A specific gene mutation causes woolly hair and hair loss.
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    Research cited in this study 23

    1. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011
    2. LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling The EMBO Journal · 2011
    3. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    4. The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71 Mammalian genome · 2010
    5. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010
    6. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    7. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    8. Identification of the Rat Rex Mutation as a 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene Journal of Veterinary Medical Science · 2010
    9. Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6 Journal of Biological Chemistry · 2009
    10. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
    11. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    12. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    13. Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament Genomics · 2007
    14. Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71 Rco12 and Krt71 Rco13 Mammalian Genome · 2006
    15. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    16. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2006
    17. A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation Genetics · 2003
    18. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003
    19. K6irs1, K6irs2, K6irs3, And K6irs4 Represent The Inner-Root-Sheath-Specific Type II Epithelial Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2003
    20. 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
    21. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
    22. A Novel Type II Cytokeratin, mK6irs, Is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath Journal of Investigative Dermatology · 2001
    23. Mice With a Null Mutation of the TGFα Gene Have Abnormal Skin Architecture, Wavy Hair, and Curly Whiskers and Often Develop Corneal Inflammation Cell · 1993

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