Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families

    December 2010 in “ Human Genetics ”
    Naveed Wasif, Syed Kamran‐ul‐Hassan Naqvi, Sulman Basit … Wasim Ahmad
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    Research cited in this study 14

    1. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    2. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    3. The Molecular Basis of Human Keratin Disorders Human Genetics · 2009
    4. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
    5. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    6. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    7. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    8. A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type Journal of Medical Genetics · 2006
    9. A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix Journal of Medical Genetics · 2005
    10. 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
    11. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    12. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    13. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    14. Mutation of a Type II Keratin Gene (K6a) in Pachyonychia Congenita Nature Genetics · 1995

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