April 2003 in “Experimental Dermatology” This workshop review from the Australian Hair and Wool Research Society discusses findings in cutaneous biology and endocrinology but presents no new research results.
6 citations
,
July 2013 in “Acta Clinica Belgica” This review discusses idiopathic hirsutism and suggests that combination treatment, including androgen suppression and cosmetic methods, is most effective, but notes that its pathogenesis remains unclear.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
4 citations
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September 2020 in “Journal of Mind and Medical Sciences” This review examines the spontaneous clearance of hepatitis C virus and factors such as IL-28B genetic polymorphism, which have been associated with this outcome, and reports no new clinical results.
49 citations
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November 2019 in “Egyptian Journal of Medical Human Genetics” This review discusses the role of CYP gene polymorphisms in exacerbating hyperandrogenism in women with PCOS and reports no clinical results; further validation of this hypothesis is needed.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers found that the NUDT15 R139C gene variant is a significant genetic risk factor for azathioprine-induced severe myelotoxicity in Japanese patients with dermatological conditions, suggesting that screening for this variant may help prevent adverse reactions in East-Asian populations.
106 citations
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March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
717 citations
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June 2010 in “Nature” This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.
98 citations
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May 2016 in “Genes” This review explains the genetic diversity of sheep wool keratin-associated protein genes and explores how this variation might be leveraged for selective breeding to enhance wool fiber traits.
1 citations
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June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” This literature review highlights the critical importance of early dermatological diagnosis of tuberous sclerosis, focusing on its genetic basis, dermatological markers, and the role of genetic testing and multidisciplinary support, while discussing treatment options like mTOR inhibitors and their limitations.
October 2024 in “Frontiers in Pharmacology” This study found that in patients with genetic generalized epilepsies, certain gene variants were linked to differences in valproic acid treatment outcomes, including a higher likelihood of treatment failure, varying serum drug concentrations, and specific side effects like weight gain and hair loss.
25 citations
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September 2014 in “SpringerPlus” This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.
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.
January 2024 in “Wiadomości Lekarskie” In this case-control study, researchers investigated the association between SIRT1 gene polymorphisms and colorectal cancer risk, finding no statistically significant differences in polymorphism frequencies between patients and controls, but noted trends that warrant further study in larger populations.
This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
4 citations
,
March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
13 citations
,
July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
September 2020 in “Research Square (Research Square)” This study identified 21 candidate genes related to immunoglobulin concentrations in colostrum and serum of dairy cattle, which may aid in genetic improvement for disease resistance.
1 citations
,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
10 citations
,
September 2022 in “Animals” This research identified 18 significant SNPs and several candidate genes associated with udder conformation traits in Holstein cattle, providing insights into their genetic architecture.
In this case study, ischemic stroke occurred in a 20-year-old male taking finasteride for hair loss, with multiple genetic predispositions for thrombosis; while causality is uncertain, clinicians should exercise caution when prescribing finasteride to patients with thrombotic risk factors.
27 citations
,
February 2014 in “BMC Cancer” The EPICAP study aims to investigate various factors influencing prostate cancer, including circadian disruption, inflammation, hormonal and metabolic factors, and genetic susceptibility, and reports no new clinical results.
9 citations
,
October 2017 in “Archivos Argentinos de Pediatria” This review discusses the clinical features, diagnosis, and treatment of alopecia areata, while investigating potential genetic, environmental, and immunological factors involved in its etiology, but reports no new findings.
1 citations
,
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.
September 2025 in “Frontiers in Immunology” This review examines the interconnected processes of atopic dermatitis and alopecia areata, highlighting shared immune imbalances, genetic factors, and microbiome influences, while analyzing current and emerging treatments and identifying gaps in understanding these overlapping conditions.
This study identified rare nucleotide substitutions in the SLC39A4 gene in children with acrodermatitis enteropathica, suggesting a genetic component to the disease's etiology.
July 2010 in “British Journal of Dermatology” New hair regrowth model proposed, imiquimod found to kill skin cancer cells, T-cadherin loss linked to invasive skin cancer, no clear gene link to skin cancer after transplant, and study on children's hair loss shows male dominance and genetic ties.