2 citations
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May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
April 2023 in “Medizinische Genetik” This review discusses the current status of genetic research on male-pattern hair loss and reports no new findings, outlining significant achievements and future challenges in understanding its biology and treatment.
20 citations
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February 2023 in “Biology” This review highlights the possibility of safely altering hair color through innovative cosmetics by targeting key biological processes in hair follicles, using insights from mammalian pigmentation studies and drug-induced hair color changes as potential pathways.
5 citations
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September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
4 citations
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October 2023 in “African Journal of Urology” This study found that hypospadias in male children is significantly associated with genetic polymorphisms in the Steroid 5 alpha reductase type 2 gene, higher parental age, consanguinity, rural residence, and preterm labor, with maternal age and rural residence being the strongest independent predictors.
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.
January 2005 in “Experimental Dermatology” This abstract reviews recent findings on genetic factors in acne, highlighting the potential of genetic studies to advance understanding of its pathogenesis, but reports no new clinical results.
92 citations
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April 1999 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that keratin 9 expression in nonpalmoplantar keratinocytes can be induced by signals from palmoplantar fibroblasts, potentially enabling the use of nonpalmoplantar epidermis to treat palmoplantar wounds.
50 citations
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February 2013 in “BMC evolutionary biology” This study found that the Hr gene loss and positive selection for the FGF5 gene in cetaceans likely contributed to hair loss as these animals adapted to aquatic environments.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
7 citations
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March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
3 citations
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November 2022 in “European Journal of Human Genetics” This study developed new genetic prediction models for male pattern baldness with improved accuracy by utilizing a large set of markers and independent datasets, making them the most reliable available for this trait.
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.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
December 2025 in “Journal of Cell Communication and Signaling” This review discusses the role of vitamin D receptor signaling in hair follicle biology for alopecia treatment and underscores the need for continued research, without presenting new clinical results.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
October 2023 in “Cell & bioscience” This study identified a primitive coarse wool characteristic in Merino sheep that enhances environmental adaptability and fine wool yield without reducing quality, suggesting that epigenetic mechanisms, particularly involving the imprinted Gtl2-miRNAs locus, regulate this advantageous trait.
April 2023 in “Anatomy Physiology & Biochemistry International Journal” In this study, researchers identified specific SNPs associated with polycystic ovarian syndrome in women from Karnataka, which could improve understanding of genetic mechanisms and aid in future diagnosis and treatment efforts.
January 2022 in “IntechOpen eBooks” This review examines lesser-known factors contributing to polycystic ovarian syndrome and reports no new clinical results, emphasizing the need for further research into individualized treatment and prevention strategies.
March 2023 in “Journal of Cosmetic Dermatology” This study in Japanese women identified SNP rs2419385 as significantly associated with hair thinning, suggesting potential involvement of nearby genes in its development.
65 citations
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March 2017 in “Experimental Dermatology” This review discusses the genetic and biological factors influencing hair curliness, revealing strong links to specific protein variations, and reports no new clinical results.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
18 citations
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January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
14 citations
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September 2019 in “Forensic Science International Genetics” This study found that hair shaft keratin proteins can be reliably identified from samples as small as 0.12 cm, suggesting their potential forensic utility with typical casework sample sizes.
13 citations
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October 2019 in “Oncology Reports” This review discusses the complex relationship between anabolic substances and colorectal cancer risk, reporting ambiguous findings on their carcinogenic properties, potential synergy with risk factors, and protective roles.
11 citations
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August 2018 in “Endokrynologia Polska” This consensus paper reviews current challenges and recommendations for diagnosing and treating polycystic ovary syndrome, highlighting the utility of the Rotterdam criteria for adults and different criteria for teenagers without requiring polycystic ovaries.
6 citations
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November 2019 in “The application of clinical genetics” This study identified a significant genetic association between the TNFα gene and alopecia areata susceptibility in the Jordanian Arab population.
4 citations
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January 2023 in “Frontiers in Immunology” In this Mendelian randomization study, shortened leukocyte telomere length was associated with an increased risk of androgenetic alopecia, but no causal relationship was found with alopecia areata.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.