February 2013 in “Journal of the American Academy of Dermatology” This study found that certain polymorphisms in EGF and EGFR genes may increase susceptibility to alopecia areata in the Korean population, and these genetic variations could be associated with specific symptoms such as nail involvement and body hair loss.
29 citations
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June 2016 in “Experimental Dermatology” This study provides suggestive evidence that duplications in the MCHR2 gene may be involved in the pathogenesis of alopecia areata.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
41 citations
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June 2022 in “Biomedicines” This study proposes reclassifying PCOS into two distinct phenotypes based on androgen levels and suggests androgen supplementation may overcome IVF resistance in one group with advancing age.
September 2023 in “International Journal of Trichology” In this study, researchers reported three cases of alopecia areata patients experiencing a rare targetoid pattern of hair regrowth, a phenomenon originally described in 1988.
26 citations
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May 2020 in “JCI Insight” In this study, single-cell sequencing revealed clonal expansions of CD4+ and CD8+ T cells in murine and human alopecia areata, supporting the development of predictive models for human disease.
July 2024 in “Egyptian Journal of Medical Human Genetics” In this case-control study, the researchers found no significant association between IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms and alopecia areata susceptibility among the Egyptian population.
13 citations
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February 2015 in “Journal of Pharmaceutical Sciences” This study found that the polymorphic forms I, II, and III of finasteride can be prepared purely, with form III being identical to what was previously referred to as form X.
March 2026 in “Egyptian Journal of Forensic Sciences” This review critically examines Forensic DNA Phenotyping, highlighting high accuracy in predicting certain traits but also legal and ethical challenges, particularly around regulatory fragmentation and issues of genetic privacy.
186 citations
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July 1998 in “Journal of Cutaneous Medicine and Surgery” This study found that shorter CAG-repeat lengths in the androgen receptor may be associated with the development of androgen-mediated skin disorders like androgenetic alopecia, acne, and hirsutism in both men and women.
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.
8 citations
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December 2003 in “Materials Research-ibero-american Journal of Materials” Polyquaternium 7® builds up on hair, improving its look and feel, and AFM is good for measuring these changes.
61 citations
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September 2010 in “Genomics” This study found distinct gene expression profiles in alopecia areata-affected skin, suggesting T-cell mediated immune responses and unique gene profiles between different stages of the disease.
5 citations
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January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
October 2022 in “Journal for Research in Applied Sciences and Biotechnology” This study found that polymorphism of the SHBG gene (rs1799941) is associated with an increased risk of Polycystic Ovary Syndrome in Iraqi women.
34 citations
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March 2009 in “Journal of Investigative Dermatology” Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
8 citations
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December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses recent advancements made in using mouse models to investigate the genetic complexity and pathogenesis of alopecia areata, emphasizing potential new treatment targets, but it reports no new findings.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
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.
4 citations
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October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
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.
March 2024 in “Dermatology and therapy (Internet)” This study identified eight genetic markers associated with androgenetic alopecia, suggesting that these SNPs could influence individualized therapeutic responses and highlight the need for personalized treatment strategies.
January 2023 in “Annals of Dermatology” This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.
July 2026 in “The Journal of Immunology” This study found that C3H mice with prior microbial exposure developed alopecia areata at a reduced rate and had fewer associated T cells compared to controls, suggesting that prior infections might attenuate autoimmune responses related to the disease.
January 2026 in “AppliedMath” This study explored a mechanism for making Turing pattern formations more predictable and robust by isolating pattern modes to prevent their sensitivity to initial conditions, which can lead to different outcomes from minor initial changes.
6 citations
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January 2013 in “Genetics and Molecular Research” This study found that women with androgenetic alopecia demonstrated higher androgen receptor gene expression compared to controls, with a correlation found between higher AR expression and fewer CAG repeats in the AR gene.
This article discusses the issues with the name "polycystic ovary syndrome" and proposes a new naming system to better reflect the condition's complex hormonal and metabolic abnormalities.
January 2023 in “Journal of Cutaneous Pathology” This study found that histopathologic features such as a catagen/telogen shift, melanin in fibrous tracts, and small dystrophic follicles can help differentiate alopecia areata from pattern hair loss in the absence of peribulbar infiltrates.
January 2020 in “Asian Journal of Chemistry” This study demonstrated that FT-Raman spectroscopy is effective for identifying finasteride polymorphs in tablets and detecting the presence of alternative polymorphs down to about 15% concentration.