97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
234 citations
,
November 2009 in “American journal of human genetics” This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.
45 citations
,
July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
140 citations
,
October 2008 in “Nature Genetics”
111 citations
,
October 2008 in “Nature Genetics” In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
62 citations
,
March 2008 in “American Journal of Human Genetics” This study located a potential genetic link for androgenetic alopecia on chromosome 3q26, marking an early step in identifying new susceptibility genes for male pattern baldness.
143 citations
,
January 2007 in “The American Journal of Human Genetics” This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.
195 citations
,
June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
276 citations
,
January 2005 in “International review of cytology” More research is needed to understand how hair keratins work and their role in hair disorders.
450 citations
,
January 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews follicular melanogenesis, detailing how melanin synthesis and its regulation in hair follicles depend on a complex interplay of cellular and molecular mechanisms, but reports no new clinical findings.
2 citations
,
September 2004 in “International Journal of Cosmetic Science” In this study, researchers linked hair composition and mechanical properties to perceived hair quality, suggesting that hair quality may be genetically determined.
152 citations
,
January 2004 in “Current anthropology” Humans lost body hair relatively recently in evolution.
169 citations
,
June 1998 in “Journal of Investigative Dermatology” This study found no significant genetic association between the 5α-reductase enzyme genes and male pattern baldness, suggesting a polygenic etiology rather than simple inheritance.
412 citations
,
January 1998 in “Science” This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
54 citations
,
January 1995 in “Human Molecular Genetics” This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.