Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

    March 2010 in “ The American Journal of Human Genetics ”
    Yutaka Shimomura, Muhammad Wajid, Lynn Petukhova … Angela M. Christiano
    Studysummary A mutation in the KRT74 gene causes tightly curled hair.
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    Research cited in this study 16

    1. Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans American journal of human genetics · 2009
    2. Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6 Journal of Biological Chemistry · 2009
    3. Enhanced Ectodysplasin-A Receptor Signaling Alters Multiple Fiber Characteristics to Produce the East Asian Hair Form Human mutation · 2008
    4. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    5. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    6. Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71 Rco12 and Krt71 Rco13 Mammalian Genome · 2006
    7. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    8. 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
    9. 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
    10. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003
    11. 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
    12. 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
    13. Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments Current Opinion in Cell Biology · 2002
    14. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999
    15. Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6 Journal of Investigative Dermatology · 1999
    16. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997