46 citations
,
October 2009 in “Archives of Dermatology” This study found that loose anagen hair syndrome is a common form of alopecia in young girls, typically presenting with thin, sparse hair and usually confirmed by a hair-pull test.
84 citations
,
April 2002 in “Archives of Dermatology” This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.
2 citations
,
January 2011 in “Dental Medicine Research” This study suggests that Keratin 6hf may be a potential marker of oral squamous cell carcinoma and could play a role in its progression, though further research is needed to understand its function.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
21 citations
,
April 2019 in “Clinical, cosmetic and investigational dermatology” This article reviews the causes and clinical presentation of pseudofolliculitis barbae, highlighting how genetic susceptibility and hair removal practices contribute to its development, but reports no new research findings.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
90 citations
,
August 2004 in “Physiological Genomics” This study found that coculturing human hair follicle keratinocyte stem cells with dermal papilla cells increased expression of the hair-specific keratin 6hf gene, which requires β-catenin/lef-1 signaling for hair differentiation.
93 citations
,
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.
6 citations
,
July 2015 in “Journal of Investigative Dermatology” Chicken feather gene mutation helps understand human hair disorders.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
Loose anagen hair syndrome in children may improve with age, but treatment results vary.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
8 citations
,
March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that weakened anchorage of hair shafts, associated with the abnormal expression of 14-3-3σ, may contribute to alopecia in Er/+ mice.
138 citations
,
March 2007 in “Experimental cell research” This review discusses hair keratins and hair follicle-specific epithelial keratins and their association with inherited hair disorders, reporting no new clinical results.
57 citations
,
February 2006 in “Journal of Investigative Dermatology” Cylindromas likely originate from hair follicle stem cells, not sweat glands.