Autosomal Recessive Hypotrichosis With Woolly Hair Caused By A Mutation In The Keratin 25 Gene Expressed In Hair Follicles

    February 2016 in “ Journal of Investigative Dermatology ”
    Nikolay V. Zernov, Mikhail Skoblov, Andrey V. Marakhonov … Р. А. Зинченко
    Studysummary A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
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    Research cited in this study 22

    1. Complete Structure of an Epithelial Keratin Dimer: Implications for Intermediate Filament Assembly PLoS ONE · 2015
    2. A Homozygous Missense Variant in Type I Keratin KRT25 Causes Autosomal Recessive Woolly Hair Journal of Medical Genetics · 2015
    3. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014
    4. Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human 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. Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families Human Genetics · 2010
    7. The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71 Mammalian genome · 2010
    8. Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia Linked to Chromosome 12p11.1-q14.3 Without KRTHB5 Gene Mutation European Journal of Dermatology · 2010
    9. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    10. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010
    11. 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
    12. Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility ˜The œJournal of clinical investigation/˜The œjournal of clinical investigation · 2009
    13. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    14. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    15. Mutations in the Helix Termination Motif of Mouse Type I IRS Keratin Genes Impair the Assembly of Keratin Intermediate Filament Genomics · 2007
    16. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    17. Morphologic and Molecular Characterization of Two Novel Krt71 (Krt2-6g) Mutations: Krt71 Rco12 and Krt71 Rco13 Mammalian Genome · 2006
    18. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    19. 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
    20. Keratins of the Human Hair Follicle International review of cytology · 2005
    21. 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
    22. Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency Journal of Investigative Dermatology · 2003

    Related research 1

    1. Towards a Molecular Understanding of Hair Loss and Its Treatment Trends in Molecular Medicine · 2001