1 citations
,
February 2024 in “Journal of the European Academy of Dermatology and Venereology” Certain genetic factors may contribute to frontal fibrosing alopecia in Brazil.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
11 citations
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March 2014 in “Journal of The European Academy of Dermatology and Venereology” In this study, researchers found that androgen receptor gene polymorphism is associated with higher androgenetic alopecia grades and PSA levels in men with benign prostatic hyperplasia, but not with prostate cancer.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
111 citations
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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.
48 citations
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May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
38 citations
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February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
January 2025 in “Nutrients” In this study, researchers found that specific genetic variations at loci rs1160312, rs6113491, and rs1041668 are independent risk factors for androgenetic alopecia in men, and these risks can be influenced by diet.
In this study, significant associations were observed between specific genetic polymorphisms in BDNF and CRH-R1 and the occurrence of vitiligo, along with differing serum levels of neurotransmitters between vitiligo patients and healthy controls.
This study on Antirrhinum trichomes found that stickiness in A. hispanicum is due to a recessive allele and mapped it to a specific region on Chromosome 1, while baldness in A. siculum likely involves a novel hairy allele.
March 2024 in “Bioscientia medicina” In this study, rs6152 was not significantly associated with androgenetic alopecia in the Indonesian population, but familial history and factors like age, gender, hypertension, and BMI were strongly linked to AGA risk.
February 2017 in “Cancer Causes & Control” In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.
1 citations
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September 2023 in “Acta dermato-venereologica” In this study, researchers found that most patients with frontal fibrosing alopecia lacked the protective rs1800440 polymorphism in the CYP1B1 gene, suggesting its potential role in the development of this condition, while a significant number carried the rs9258883 polymorphism in HLA-B*07:02.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
125 citations
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August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
179 citations
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June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
January 2009 in “Side effects of drugs annual” This chapter reviews drugs affecting blood coagulation and details the increased hemorrhage risk associated with warfarin interactions, liver disease, heart failure, and antiphospholipid antibodies but reports no new clinical results.
1 citations
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August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
1 citations
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April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
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.
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.
March 2025 in “Human Genetics and Genomics Advances” This study found that genetic predictions of male pattern baldness from European populations do not generalize well to African populations, highlighting significant differences in genetic architecture between them.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
January 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that genetic predictions of male pattern baldness derived from European data do not accurately predict baldness in African populations, highlighting significant continental differences in genetic architecture and evolutionary history.
27 citations
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January 2000 in “Developmental Dynamics” This study reports that a new nude allele, nu(StL), encodes a truncated Whn transcription factor affecting T-cell development and keratin gene expression, with notable differences from the original Whn(nu) mutation.
2 citations
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April 2025 in “Frontiers in Genetics” This study investigated the genetic basis of coat color variation in cattle using skin transcriptome and whole-genome analyses, identifying the ASIP gene as a significant determinant that is differentially expressed and under strong positive selection in black and brown cattle breeds.
September 2016 in “Journal of Dermatological Science” This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.