15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
51 citations
,
December 2006 in “Mammalian Genome”
308 citations
,
December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
47 citations
,
September 2004 in “Journal of Biological Chemistry” Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
July 2024 in “New Phytologist” PDF2 senses specific lipids and regulates root growth and gene expression in Arabidopsis.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
January 2025 in “Pakistan Journal of Health Sciences” The Cyp11a1 gene variation has a weak link to PCOS, but higher di-hydro-testosterone levels are found in PCOS patients.
29 citations
,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
3 citations
,
March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
9 citations
,
September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
9 citations
,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
9 citations
,
June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
January 2018 in “Murdoch Research Repository (Murdoch University)” Improved genetic diagnosis of PCOS can lead to better patient outcomes.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
26 citations
,
February 1998 in “Chemico-Biological Interactions” Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
3 citations
,
April 2023 in “Veterinary sciences” Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
December 2024 in “Era s journal of medical research” Genetic variants in CYP genes may worsen PCOS symptoms.
March 2026 in “Journal of Investigative Dermatology” Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
3 citations
,
April 2024 in “Molecular Human Reproduction” Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.
45 citations
,
November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
May 2025 in “Frontiers in Veterinary Science” Cashmere quality differences are due to gene expression variations affecting hair development and adaptation to cold.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.
October 2023 in “IntechOpen eBooks” Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.