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.
April 2025 in “British Journal of Dermatology” This study identified three genetic loci influencing hair density in East Asian populations and found associations with demographic and lifestyle factors like age, sex, and BMI. The results also suggest possible genotype-specific responses to finasteride for managing hair disorders.
February 1989 in “PubMed” This study found a genetic electrophoretic variant in high-sulfur proteins from human hair, which was more prevalent in the Japanese samples compared to Caucasian samples, suggesting an autosomal inheritance pattern.
January 2013 in “Faculty of Health; Institute of Health and Biomedical Innovation” This study aimed to identify unknown genetic risk loci associated with androgenetic alopecia by examining SNPs at 12 genomic loci but did not find complete heritable risk factors.
308 citations
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December 2018 in “PLOS Genetics” This study identified three novel genetic loci associated with PCOS and found similar genetic architecture across different diagnostic criteria, with evidence suggesting genetic links between PCOS and various metabolic and psychological traits.
194 citations
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November 2006 in “Science” This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.
169 citations
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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.
133 citations
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February 2017 in “PLoS Genetics” In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.
133 citations
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January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
112 citations
,
January 2004 in “The International journal of developmental biology” This study found that feather patterning is primarily self-organizing and dynamic, relying on both genetic and epigenetic controls, with implications for similar processes like fingerprints and pigmentation.
103 citations
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March 2015 in “Nature Communications” This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
94 citations
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April 2018 in “Nature Genetics” This study identified more than 100 genetic loci associated with hair color variation in Europeans, explaining a significant portion of the trait's heritability and advancing understanding of hair pigmentation.
74 citations
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July 2008 in “Journal of Dermatological Case Reports” This study found that trichoscopy can diagnose genetic hair shaft abnormalities without plucking or cutting hair, by visualizing characteristic features in a single session.
67 citations
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December 2008 in “Developmental Biology” This study found that the transcription factors Msx2 and Foxn1 are crucial for maintaining Notch1 expression in the hair follicle matrix, which is necessary for proper hair differentiation.
64 citations
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March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
58 citations
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December 2018 in “Nature Communications” This study found that male pattern baldness in European males is strongly heritable and associated with genetic markers linked to earlier puberty, bone density, and pancreatic function.
53 citations
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January 2013 in “Journal of toxicologic pathology” This publication provides a standardized nomenclature for classifying microscopic lesions in laboratory rat and mouse skin, aiming to harmonize international toxicological research.
53 citations
,
January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
50 citations
,
May 2018 in “International journal of cardiology” This study found associations between genetic predictors of increased testosterone and cardiovascular risk factors, but the implications for testosterone supplementation are unclear due to uncertainties in genetic variant functions.
37 citations
,
January 2010 in “Human Molecular Genetics” In this study using mice with specific gene knockouts, both farnesyltransferase and geranylgeranyltransferase-I were found to be essential for the proliferation and survival of skin keratinocytes.
35 citations
,
June 2011 in “British Journal of Dermatology” This study found that in an Italian population, the HLA-DQB1*03 allele was associated with increased susceptibility to alopecia areata, particularly in cases with more than 50% hair loss.
32 citations
,
August 1999 in “Journal of Investigative Dermatology” This study found that individuals with early onset extensive androgenetic alopecia have an elevated ratio of DHT to testosterone, but no significant genetic linkage to markers on chromosomes 2 or 5 was detected.
21 citations
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January 2018 in “PLoS Genetics” This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.
18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” This study identified an association between the FTO gene and susceptibility to PCOS, providing the first genetic evidence linking PCOS to obesity.
14 citations
,
April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
14 citations
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May 2013 in “American Journal of Physiology-endocrinology and Metabolism” This study found that mice lacking myelin protein zero-like 3 (Mpzl3) had reduced body weight and adiposity despite increased food intake, which was linked to higher energy expenditure and improved glycemic control.
12 citations
,
January 2018 in “Journal of Clinical Laboratory Analysis” This study found that IL-18 rs187238 and rs1946518 single nucleotide polymorphisms were associated with increased susceptibility to alopecia areata in a Turkish population.
12 citations
,
July 2015 in “Tissue Antigens” In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
11 citations
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November 2015 in “Carcinogenesis” In this study, researchers found that deleting TNFα in PKCε transgenic mice reduced the development of cutaneous squamous cell carcinomas induced by UV radiation or a chemical protocol.