7 citations
,
February 2024 in “The Journal of Physiology” This study suggests that male sex and androgenic steroid use increase the risk of atrial arrhythmias in individuals with arrhythmogenic right ventricular cardiomyopathy, especially those with desmosomal gene mutations.
133 citations
,
January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
April 2026 in “Frontiers in Immunology” In this study, researchers did not find any genome-wide significant genetic signals linked to comorbid chronic inflammatory disorders in patients with alopecia areata, but exploratory analysis suggested potential associations worth further study.
143 citations
,
January 2007 in “The American Journal of Human Genetics” This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.
49 citations
,
June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
9 citations
,
December 2023 in “BMC Genomics” This study examined noninvasive tissue samples, including buccal swabs, hair follicles, saliva, and urine cell pellets, and found hair follicles and urine cell pellets promising for transcriptomic and clinical analyses due to their sample quality and performance in disease-relevant applications.
5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
4 citations
,
January 1992 in “American Journal of Ophthalmology” 3 citations
,
June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
1 citations
,
October 2025 in “Biology of Sex Differences” This study concluded that while sex-related biological factors may influence COVID-19 outcomes, they do not fully explain the differences in mortality between women and men, underscoring the need for a gendered, intersectional approach to understanding health inequities and risk factors.
November 2025 in “Free Radical Biology and Medicine” This study identified ten potential therapeutic targets and biomarkers for androgenic alopecia, with SOD1 and KL as particularly promising candidates for future therapies.
June 2024 in “Synthetic and systems biotechnology” In this study, researchers identified a collagen fragment, sample-1707, expressed in E. coli, which forms nanofibers and promotes blood clotting, osteoblast differentiation, and skin cell regeneration, making it a promising biomaterial for skin care, with a large-scale production yield of 600 mg/L.
April 2024 in “Human genomics” This study identified MPB susceptibility genes and potential drug candidates that may help uncover molecular mechanisms and address male-pattern baldness.
June 2023 in “Frontiers in Genetics” This study suggests that the curly hair phenotype in Mangalitza pigs may involve complex gene interactions related to calcium signaling and lipid metabolism, rather than changes in TRPM2 or CYP4F3 expression.
June 2020 in “Journal of Investigative Dermatology” This symposium reviewed advances in understanding complex skin diseases through genetics and genomics, emphasizing the role of regulatory signals and environmental components in disease development, but reports no new clinical findings.
153 citations
,
June 2015 in “GenomeBiology.com” This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.
76 citations
,
January 1998 in “Mammalian Genome” 34 citations
,
August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
11 citations
,
February 2011 in “The Journal of Dermatology” This study observed four consanguineous families with congenital atrichia with papular lesions and identified three novel mutations in the hairless gene, which may contribute to the disorder.
10 citations
,
July 2022 in “BMC Biology” This review discusses how sex-limited chromosomes can affect non-reproductive traits in various sex determination systems and reports no new empirical results.
5 citations
,
November 2020 in “Forensic Science International Genetics” This study found that using trait prevalence-informed priors may improve the prediction accuracy of appearance traits in Bayesian models, but their application is limited by sparse knowledge on trait prevalence.
4 citations
,
January 2021 in “Cell transplantation” This study found that human induced pluripotent stem cells differentiated precisely to express certain markers during a specific window could enable successful hair follicle generation when transplanted.
3 citations
,
August 2022 in “Biochemical Genetics”
February 2026 in “Preprints.org” This study analyzed data from the FDA Adverse Event Reporting System to evaluate cancer therapy–induced alopecia, finding that reporter type significantly affects signal detection, with docetaxel showing the highest disproportionate association overall, and vismodegib ranking highest among healthcare professional reports.
February 2024 in “BIOspektrum” This review discusses the latest molecular genetic insights into male-pattern hair loss and their potential applications in improving prediction and treatment, without reporting new clinical results.
286 citations
,
August 2007 in “Journal of Clinical Investigation” This review examines the interplay of genetics and neuroimmunology in alopecia areata, highlighting its potential to inform broader autoimmunity research, but reports no new findings.
136 citations
,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
83 citations
,
January 2004 in “Pharmacology & Therapeutics” This review explores the potential role of pregnane neurosteroids in modulating alcohol withdrawal symptoms, suggesting a therapeutic target for treating alcohol dependence, but reports no new clinical results.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.