http://purl.uniprot.org/citations/20346438 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20346438 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20346438 | http://www.w3.org/2000/01/rdf-schema#comment | "Autosomal-dominant woolly hair (ADWH) is a rare disorder characterized by tightly curled hair. The molecular basis of ADWH has not previously been reported. In this study, we identified a Pakistani family with ADWH. The family showed linkage to chromosome 12q12-q14.1, containing the type II keratin gene cluster. We discovered a heterozygous mutation, p.Asn148Lys, within the helix initiation motif of the keratin 74 (KRT74) gene in all affected family members. KRT74 encodes the inner root sheath (IRS)-specific epithelial (soft) keratin 74. We demonstrate that the mutant K74 protein results in disruption of keratin intermediate filament formation in cultured cells, most likely in a dominant-negative manner. Furthermore, we sequenced the mouse Krt71-74 genes in the dominant Caracul-like 4 (Cal4) allele, which is characterized by a wavy-coat phenotype and maps to the same region of mouse chromosome 15 as the Caracul (Ca) and Reduced coat (Rco) alleles. We identified a heterozygous mutation, p.Glu440Lys, not in Krt74 but in the neighboring gene, Krt71. Krt71 was previously reported to harbor Ca and Rco mutations, as well as a coding SNP that is associated with curly-coated dogs. In this study, we define the ADWH phenotype resulting from a mutation in a hair-follicle-specific epithelial keratin in humans. Our findings not only further underscore the crucial roles of the IRS-specific epithelial keratin genes Krt71-74 in hair disorders but also open the possibility that these genes might function as genetic determinants of normal variation in hair texture across mammalian species."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.02.025"xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.02.025"xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Shimomura Y."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Shimomura Y."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Christiano A.M."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Christiano A.M."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Kurban M."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Kurban M."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Petukhova L."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Petukhova L."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Wajid M."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/author | "Wajid M."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/pages | "632-638"xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/pages | "632-638"xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/title | "Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/title | "Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture."xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/volume | "86"xsd:string |
http://purl.uniprot.org/citations/20346438 | http://purl.uniprot.org/core/volume | "86"xsd:string |