26 citations
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September 2010 in “Experimental Dermatology” In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.
August 2015 in “International Journal of Genetics and Molecular Biology” This study found that specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.
4 citations
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October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that cPPARγ and dnPPARγ isoforms are differentially expressed in healthy human skin, suggesting that PPARγ modulators may have compartment-specific effects depending on isoform presence.
5 citations
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March 2021 in “F1000Research” This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.
4 citations
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July 2024 in “Animals” In this study on Chinese Tan sheep, researchers discovered a variant of the KRTAP19-5 gene associated with decreased curvature of fine wool fibres, highlighting potential genetic markers for improving wool quality.
1 citations
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February 2009 in “Clinical Genetics” This study identified new genetic variants on chromosome 20p11 associated with male pattern baldness.
52 citations
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May 2006 in “Journal of Structural Biology” This study identified two key pentapeptide quasi-repeats in human keratin-associated proteins, which are similar to motifs found in sheep wool.
January 2014 in “China Animal Husbandry & Veterinary Medicine” In this study, researchers observed that the KAP8-1 gene influences skin and hair follicle development and wool quality with varying expression levels in different Ovis aries crossbred varieties.
7 citations
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August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
September 2018 in “Fertility and Sterility” In this study, researchers observed that overweight Taiwanese women with PCOS who carry the HSD3B1 1245C allele have a significantly higher risk of developing androgenic alopecia compared to those with the wild-type allele.
6 citations
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January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.
9 citations
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July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
119 citations
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August 2008 in “BMC Evolutionary Biology” This study found that while the KRTAP gene family is unique to mammals, humans have a similar number of these hair gene types as other primates despite having less body hair.
2 citations
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April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
March 2026 in “Journal of genetics and genomics/Journal of Genetics and Genomics”
February 2013 in “Journal of the American Academy of Dermatology” In this study, the HairCheck device was reported to accurately assess changes in hair density and diameter, suggesting its usefulness in monitoring alopecia progression and treatment response.
2 citations
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August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
March 2026 in “The Indian Journal of Animal Sciences” This study on Indian dromedary camel breeds investigated the KRTAP7 protein, finding all four breeds shared an identical gene sequence, with 13 phosphorylation and glycosylation sites influencing hair characteristics, alongside predicted interactions with other biosynthesis-related proteins.
This study identified four genes related to alopecia areata: GIMAP6 and ALOX15 as risk factors, and GALNT6 and HEG1 as protective factors, noting significant validation differences in GALNT6 and HEG1.
58 citations
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June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
6 citations
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June 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human centromeric regions exhibit large-scale haplotypes with significant diversity, including entire Neanderthal haplotypes, which may affect chromosome transmission.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
January 2009 in “China Practical Medicine” This study found that several genes, including capping protein, palladin, VEGF, and HSPC-related clones, might cooperatively influence the aggregation, proliferation, and cycle control of dermal papilla cells, potentially affecting hair follicle behavior.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
7 citations
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July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.