March 2024 in “International journal of molecular sciences” In this study on Angora rabbits, researchers identified genetic factors influencing wool fiber diameter by analyzing hair follicle proteins, highlighting keratin family members and other proteins as key contributors to fiber differences between coarse and fine wool.
March 2012 in “Hair transplant forum international” This article discusses differences in hair loss among monozygotic female twins despite identical genetics and reports no new clinical findings.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
45 citations
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April 2018 in “Nature Reviews Urology” This review discusses the molecular mechanisms of masculinization involving androgen signaling and their roles in male embryonic development and conditions like hypospadias and prostate cancer, and reports no clinical results.
18 citations
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June 2019 in “Twin research and human genetics” This article describes the 25Up study on psychological and behavioral risk factors for mental illness in Australian twins and their siblings and reports prevalence data for various mental disorders.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
This case study reports that early genetic testing and targeted therapies, such as secukinumab, can significantly improve skin barrier function in patients with Netherton syndrome, despite persistent symptoms.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
September 2024 in “Genes” This study found significant genetic differences between pigs with and without hair whorls, suggesting potential implications for pig breeding strategies in China.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
June 2020 in “Journal of genetic medicine” This article reviews neuroendocrine abnormalities in polycystic ovarian syndrome and reports no new findings, highlighting areas such as the hypothalamus-pituitary axis and genetic basis.
January 2012 in “Faculty of Health; Institute of Health and Biomedical Innovation” This study found six new genetic factors linked to early-onset androgenetic alopecia and its association with increased risk of Parkinson's disease and decreased fertility.
57 citations
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November 2006 in “International Journal of Cancer” This study found that the SRD5A2 A49T A variant is associated with an increased risk of prostate cancer, lower circulating 3α‐diolG levels, and a decreased risk of baldness.
286 citations
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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.
88 citations
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February 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study reported that vitiligo patients in Turkey had a high prevalence of associated autoimmune diseases and auditory problems, suggesting vitiligo may be part of a systemic autoimmune process.
17 citations
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February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
12 citations
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February 2023 in “Journal of Personalized Medicine” This review discusses the complex interplay of genetic and environmental factors in Type 1 Diabetes Mellitus and its frequent association with other autoimmune conditions, focusing on personalized medicine to potentially improve patient care.
6 citations
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October 2023 in “Animal Biotechnology” This study found that a 22-bp InDel polymorphism in the FGF7 gene was significantly associated with growth traits in goats, with genotypes ID and/or II linked to better growth compared to genotype DD, indicating its potential as a molecular marker in breeding programs.
1 citations
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January 2022 in “Open Access Macedonian Journal of Medical Sciences” This study found that BDNF gene polymorphism was significantly associated with depression in patients with autoimmune thyroiditis and hypothyroidism in the Western Ukrainian population, unlike VDR and NMDA polymorphisms.
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.
December 2024 in “Medicine” This study suggests a potential genetic link between gut microbiota and androgenetic alopecia, identifying specific microbial taxa associated with either increased or reduced risk.
76 citations
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October 2016 in “Clinics in dermatology” This review discusses the hormonal and genetic factors influencing acne development, emphasizing the role of androgens and insulin signaling but reports no new clinical results.
37 citations
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August 2020 in “BMC Genomics” This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.
17 citations
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July 2017 in “Molecular and Cellular Endocrinology” The authors reviewed the mechanisms behind Kennedy's disease, noting advances in therapeutic strategies such as androgen deprivation and gene silencing that may soon expand treatment options for this incurable neuromuscular condition.
10 citations
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November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
January 2024 in “Zenodo (CERN European Organization for Nuclear Research)” This meta-analysis utilized genome-wide association data to explore the genetic traits related to perceived youthfulness across different sex groups in the UK Biobank, incorporating factors like facial aging and lifestyle habits, but the abstract does not report specific results.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
20 citations
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June 2019 in “Experimental Dermatology” This study identified 14 genes affected by copy number variants that may contribute to alopecia areata, including four genes notably involved in autophagy and chromatin remodeling.
13 citations
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April 2018 in “Scientific Reports” In this study, genetic variants in the KRT25 and SP6 genes were found to be responsible for curly hair in horses, with the KRT25 variant also causing hypotrichosis due to an epistatic effect.
6 citations
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August 2023 in “BMC genomics” This study found that Tibetan cashmere goats have genetic adaptations that contribute to their finer cashmere, possibly enhancing their ability to withstand the cold climate of the Tibetan plateau, while identifying specific genes related to hair growth, pigmentation, and heart development.