150 citations
,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.
104 citations
,
October 2016 in “PLoS ONE” This study found that CRISPR/Cas9-mediated disruption of the FGF5 gene in goats increased hair follicle numbers and fiber length, suggesting more cashmere production could be achieved.
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.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
39 citations
,
October 2010 in “Journal of The American Academy of Dermatology” This study reported that alopecia occurred in 2.5% of patients with mycosis fungoides or Sézary syndrome, with some cases resembling alopecia areata and others associated with specific skin lesions.
38 citations
,
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.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
19 citations
,
November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
16 citations
,
December 2001 in “Dermatologic Therapy” This review summarizes current genetic knowledge of alopecia areata and provides a theoretical framework for future genetic mapping studies, but reports no new results.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
1 citations
,
January 2025 in “Frontiers in Immunology” In this study, researchers found that cytokine dysregulation linked to genetic background is present in both patients and healthy but genetically related individuals in two autoimmune skin diseases, Pemphigus vulgaris and Alopecia areata, suggesting that protective immune mechanisms may prevent disease manifestation in predisposed individuals.
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.
December 2025 in “Çukurova medical journal (Online)/Çukurova medical journal” In this retrospective review, increased frequencies of certain HLA-DRB1 alleles and low vitamin D3 levels were observed in men with androgenetic alopecia, suggesting an association with immunogenetic factors and potential relevance for screening and treatment decisions.
July 2018 in “Elsevier eBooks” This study highlights lichen planopilaris as a form of scarring hair loss with symptoms like shedding and itching, and notes successful treatment options such as topical and oral antiinflammatory medications to preserve hair follicles by early intervention.
4 citations
,
December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
77 citations
,
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.
23 citations
,
January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
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.
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.
23 citations
,
May 2009 in “International Journal of Dermatology” In this study, no association was found between the AR gene and type II androgenetic alopecia in Egyptian women, suggesting it is not a useful biomarker for predisposition.
7 citations
,
January 2019 in “Postepy Dermatologii I Alergologii” This study found that the count of CAG trinucleotide repeats in the androgen receptor gene may be associated with acne in female patients without hyperandrogenism.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
November 2025 in “Molecular and Cellular Biomedical Sciences” This study found no significant association between the MMP-1 gene polymorphisms rs1799750 and androgenetic alopecia in the sample population.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” This study reported no significant association between vaspin and visfatin -4689G/T gene polymorphisms and alopecia areata in the Turkish population, although the visfatin GT genotype may pose a risk factor for the condition.
January 2009 in “Egyptian Journal of Medical Human Genetics” This study, conducted among Egyptians, found a borderline significant association between the Stul polymorphism of the androgen receptor gene and androgenetic alopecia in males, with higher androgen receptor expression in balding scalp areas.
88 citations
,
August 2019 in “Nature communications” In this study, researchers identified a specific T cell receptor associated with carbamazepine-induced severe cutaneous adverse reactions, demonstrating its potential for therapeutic development in patients with the HLA-B*15:02 genotype.
24 citations
,
January 2008 in “KARGER eBooks” This review discusses recent advances in understanding the pathogenesis of autoimmune alopecia areata and reports no new clinical results; it highlights potential for developing more effective treatments.
391 citations
,
January 2010 in “Journal of The American Academy of Dermatology” This article reviews the clinical presentation and histopathologic features of alopecia areata and proposes a hypothesis for its development, but it reports no new clinical results.
50 citations
,
March 2000 in “American Journal of Clinical Dermatology” This article discusses the etiology, clinical features, and treatment of alopecia areata but presents no new clinical findings, underlining the palliative nature of current therapies.
1 citations
,
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.