195 citations
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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.
30 citations
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March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
This study analyzed the genetic variations of the KAP20-1 gene in Chinese Tan sheep lambs and found that the G variant was linked to an increased mean fibre curvature in their fine wool fibres, potentially influencing breeding strategies for this wool trait.
7 citations
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July 2019 in “Animals” This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.
16 citations
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March 2011 in “Dermatologic Therapy” This study suggests that genetic variants in the androgen receptor gene may predict which postmenopausal women with hair loss respond to finasteride therapy.
8 citations
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December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
3 citations
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August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
January 2025 in “Kuwait Journal of Science” In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.
18 citations
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September 2018 in “The Journal of Agricultural Science” In this study, the presence of certain KAP15-1 gene variants in sheep was associated with differences in wool yield and fiber characteristics.
4 citations
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January 2020 in “Genes” This study found that genetic variation in the KRTAP21-2 gene among crossbred Merino lambs was associated with differences in wool traits, particularly mean staple length.
1 citations
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September 2023 in “Animals” This study found that genetic variants in the goat KRTAP22-2 gene are associated with the mean fiber diameter of cashmere in Longdong Cashmere goats, suggesting these variants could serve as molecular markers for improving cashmere traits.
1 citations
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July 2023 in “Journal of Animal Science and Biotechnology” This study discovered that lambs with coarse, ancestral-like wool in a population of modern fine wool sheep exhibited overexpression of the SOSTDC1 gene, linked to epigenetic changes, which helps understand the development and diversification of wool types in sheep breeding.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
This study identified a new gene in sheep, KRTAP36-2, discovering variants associated with wool yield. Variations in this gene were linked to the efficiency of fleece conversion from greasy to clean, which may enhance wool production.
This study identified the FGF5:c.578C>T variant as linked to long hair in Akitas in Japan and suggests that genetic testing could help improve their breeding practices and welfare.
29 citations
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September 2017 in “Genes” This study found that in Merino-Southdown cross sheep, the presence of the C variant of the KRTAP26-1 gene was associated with higher wool quality, including increased wool yield and staple length.
3 citations
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January 2020 in “Indian Journal of Dermatology” This study found that certain VDR gene polymorphisms are more prevalent in female pattern hair loss patients than in healthy controls, suggesting these polymorphisms may increase disease risk.
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.
October 2021 in “Postepy Dermatologii I Alergologii” In this study, researchers found no significant association between selected CYP19A1 and ESR2 gene SNPs and female androgenetic alopecia in the Polish population studied.
77 citations
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April 2009 in “British Journal of Dermatology” In this study, genetic variation in the CYP19A1 gene, particularly the common rs4646 C allele, was associated with an increased risk of female pattern hair loss, especially in women under 40.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
July 2026 in “Frontiers in Pharmacology” This study assessed pharmacogenomic variants and chemotherapy-related toxicity profiles in Tanzanian children with cancer, reporting notable genetic diversity that may influence toxicity but did not evaluate genotype-toxicity associations.
March 2021 in “Medico-Legal Update” In this study, no significant change in androgen receptor gene expression was found in females with recurrent spontaneous abortion, but a mutant genotype may offer some protection against the condition.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
January 2024 in “Journal of camel practice and research/Journal of Camel Practice and Research” This study analyzed the KRTAP7 gene in four Indian camel breeds and found that the gene sequences were identical across breeds, with no observed SNPs in coding or non-coding regions.
May 2008 in “Hair transplant forum international” This abstract provides no results, as it only notes Sharon Keene's professional role and describes a non-blood test for AGA genetics.
13 citations
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April 2009 in “PLOS ONE” This study found no evidence that androgen receptor copy number variation is associated with androgenetic alopecia, suggesting it is unlikely to be a contributing factor.
41 citations
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October 2011 in “Clinical and Experimental Dermatology” This meta-analysis suggests that the G allele of AR StuI polymorphism might be a potential risk factor for AGA, particularly in white populations.