49 citations,
November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
48 citations,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
47 citations,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
44 citations,
February 2012 in “The journal of neuroscience/The Journal of neuroscience” Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
40 citations,
March 2016 in “The Journal of Clinical Endocrinology & Metabolism” Young girls whose mothers have PCOS may have higher activity of a specific enzyme that could lead to developing PCOS later.
40 citations,
October 2002 in “Endocrinology” Vitamin D3 analogs can promote hair growth in mice genetically prone to hair loss.
39 citations,
March 2007 in “Journal of Cosmetic Dermatology” Dutasteride helps slow hair loss and boosts hair growth.
38 citations,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
32 citations,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
26 citations,
July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
20 citations,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
20 citations,
January 2008 in “Reproductive Biomedicine Online” Sexual orientation does not affect the prevalence of PCOS or fertility rates in women undergoing artificial donor insemination.
18 citations,
March 2015 in “Journal of Endocrinological Investigation” The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
14 citations,
September 2015 in “Expert Opinion on Therapeutic Targets” The conclusion is that while oral contraceptive pills are effective for PCOS-related high androgen levels, new treatments with fewer side effects are needed.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
10 citations,
February 2008 in “Photochemistry and photobiology” Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
10 citations,
February 2007 in “Current Opinion in Endocrinology, Diabetes and Obesity” Low birthweight and rapid weight gain after birth may increase the risk of developing polycystic ovary syndrome.
9 citations,
April 2019 in “International journal of molecular sciences” Human hair grows better in a special gel that mimics skin.
9 citations,
March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
9 citations,
February 2013 in “Hormone and Metabolic Research” Mutations in the CYP21A2 gene are not a major factor in causing PCOS.
8 citations,
March 2014 in “American Journal of Pathology” Damaged hair follicles make mice more prone to skin inflammation and skin cancer after UV exposure.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
6 citations,
March 2016 in “Scandinavian journal of immunology” Janus kinase inhibitors show promise in treating alopecia areata but need more safety research.
4 citations,
July 2013 in “Journal of Dermatological Science” Pregnancy right after giving birth in mice lacking IL-10 causes milk that leads to liver issues and hair loss in their babies.
3 citations,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
3 citations,
October 2010 in “Journal of Experimental & Clinical Medicine” Obesity is a major risk factor for insulin resistance in Taiwanese women with PCOS, which is also an independent risk factor for metabolic syndrome.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
August 2024 in “Frontiers in Pharmacology” Antibody treatments show promise for hair loss but need more research.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
Androstenedione is better than testosterone for diagnosing PCOS in Indian women.