In this study, researchers created a mouse model using CRISPR/Cas9 technology to investigate hypotrichosis simplex and woolly hair, finding that Krt71-knockout mice exhibited curly hair and developed complete hair shedding without immune deficiencies, mimicking conditions seen in humans and potentially aiding future hair disorder research.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
8 citations
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December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
13 citations
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April 2018 in “Scientific Reports” In this study, genetic variants in the KRT25 and SP6 genes were found to be responsible for curly hair in horses, with the KRT25 variant also causing hypotrichosis due to an epistatic effect.
211 citations
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April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
29 citations
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July 2015 in “Journal of Medical Genetics” This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
40 citations
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June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
40 citations
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December 2010 in “Human Genetics”
75 citations
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October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
85 citations
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October 2007 in “International Journal of Dermatology” In this study, researchers found that the curliness of human hair is associated with an asymmetric structure at the cellular level, particularly in the differentiation of the precortex.
51 citations
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December 2006 in “Mammalian Genome” 93 citations
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July 2006 in “Journal of Investigative Dermatology” This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
79 citations
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March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
53 citations
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October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
78 citations
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June 2003 in “Journal of the American Academy of Dermatology” This article reviews the autonomous functioning and complex interactions within hair follicles, emphasizing their unique composition and differentiation pathways, but does not report new research findings.
86 citations
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May 2002 in “Journal of Investigative Dermatology” This study characterized a new human keratin, hK6irs1, specifically found in the inner root sheath of hair follicles, which suggests its role in the structural integrity and guidance of growing hair shafts.
45 citations
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March 2001 in “Journal of Investigative Dermatology” This study identified a new cytokeratin, mK6irs, specifically expressed in the inner root sheath of mouse hair follicles, distinguishing it as a member of the type II cytokeratin family.
93 citations
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May 1990 in “The EMBO Journal” Mice with extra sheep genes had hair that fell out and regrew in cycles.
85 citations
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January 1990