April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” In this study, total Sry transcript expression in various rat tissues was linked to Acsl3 expression, suggesting that Sry may play a role in regulating fatty acid metabolism.
336 citations
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August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
266 citations
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November 2013 in “European Journal of Epidemiology” This article outlines the rationale and design of the Rotterdam Study, summarizes its major findings, and updates its objectives and methods; it reports no new research results.
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.
110 citations
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December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This article reviews current understanding of alopecia areata, its genetic and immune factors, and discusses ongoing research and treatment development, without presenting new experimental results.
76 citations
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April 2005 in “Cancer Epidemiology, Biomarkers & Prevention” This study found that the AR-E211 A allele is associated with a lower risk of both metastatic prostate cancer and androgenetic alopecia in an Australian population.
60 citations
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January 2021 in “BMC Genomics” This study mapped genomic copy number variation in Chinese fine-wool sheep, identifying genes involved in sensory perception, nutrient metabolism, growth, and development, and highlighting significant selection on the RXFP2 gene.
58 citations
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June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
52 citations
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March 2022 in “Biology of Sex Differences” This review examines biological reasons for sex-based differences in COVID-19 outcomes, noting that females exhibit stronger immune responses, potentially explaining lower severity and mortality compared to males.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
47 citations
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January 2013 in “International Journal of Cosmetic Science” This review explores genetic and lifestyle factors influencing hair diversity and reports no new findings, calling attention to the potential for future discoveries in genetic and epigenetic research.
36 citations
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September 1999 in “Journal of Cell Science” This study suggests that basonuclin may act as a tissue-specific transcription factor for ribosomal RNA genes by interacting with the promoter region necessary for high transcription levels in human keratinocytes.
24 citations
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January 2018 in “Indian Journal of Dermatology, Venereology and Leprology” This review discusses advances in molecular biology and genetics related to androgenetic alopecia and reports no new clinical results.
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.
17 citations
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November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
15 citations
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December 2017 in “Journal of Investigative Dermatology” This study identified two genome-wide significant genetic associations with seborrheic dermatitis, suggesting a potential genetic susceptibility contributing to the disease's pathogenesis.
13 citations
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August 2017 in “Scientific reports” This study designed a 66 K SNP chip using solution hybrid selection for cashmere goats, reporting SNP call rates between 95.3% and 99.8% and demonstrating its utility in genomic analyses, suggesting potential application for other species.
12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
5 citations
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September 2016 in “Security science and technology” DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
1 citations
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November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
1 citations
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May 2023 in “Frontiers in Endocrinology” This research suggests that autism's genetic links are partially related to factors influencing physiological sex differences, with rare variants interacting with placental sex differences and common variants affecting steroid-related traits.
1 citations
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December 2022 in “BMC Genomics” This study found that the Msx2 gene may regulate goose feather follicle development by influencing cell viability and gene expression, with potential implications for improving down production.
This review discusses genetic and epigenetic studies of PCOS, highlighting Genome-Wide Association Studies that found genetic variants related to gonadotrophin secretion influencing PCOS susceptibility, but it reports no new findings.
1 citations
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February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
February 2026 in “Journal of Advances in Biology & Biotechnology” This review highlights advances in understanding alopecia areata as a systemic disease involving genetic, immune, and environmental factors, noting new treatments like Janus kinase inhibitors but acknowledging challenges in long-term safety and accessibility.
October 2025 in “International Journal of Advanced Multidisciplinary Research and Studies” This study found that hairless dog breeds have adapted to maintain normal body and core temperatures through structural changes like a thicker epidermis and the role of melanin in thermoregulation, with genetic mechanisms involving the FOXI3 gene governing hairlessness.
September 2025 in “Genes” In this study, researchers reported that specific gene polymorphisms in Jiangnan cashmere goats, particularly SNPs in the HOXC13 and WNT4 genes, were significantly associated with key economic traits like birth weight and yearling weight, providing molecular markers for breeding and enhancing economic trait stability.