December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
November 2023 in “International journal of reproduction, contraception, obstetrics and gynecology” Polycystic ovary syndrome causes high male hormone levels, leading to symptoms like excess hair, acne, and fertility problems.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
6 citations,
December 2022 in “Frontiers in Pharmacology” Quercetin may help improve symptoms of polycystic ovary syndrome.
4 citations,
February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
4 citations,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
August 2023 in “Revista Contemporânea” Early life factors, including a mother's health and environment, can affect the chances of developing polycystic ovary syndrome later in life.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
450 citations,
January 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair color is determined by melanin produced and transferred in hair follicles.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
92 citations,
September 2013 in “Journal of Investigative Dermatology” BMAL1 and Period1 genes can influence human hair growth.
81 citations,
September 2009 in “Birth defects research” Different body areas in mice produce different hair types due to interactions between skin layers.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
43 citations,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
35 citations,
December 2009 in “Lupus” Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
31 citations,
September 2012 in “Journal of biological chemistry/The Journal of biological chemistry” The right amount of retinoic acid is essential for normal hair growth and development.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
11 citations,
May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
September 2021 in “Physiology News” Conditions affecting sex development show that sexual diversity is a natural part of human variation.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
December 2023 in “Animal research and one health” Certain circular RNAs are crucial for wool growth and curvature in goats.
October 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Activating telomerase can boost hair follicle stem cell growth and hair production.
181 citations,
December 2017 in “Trends in immunology” Intestinal intraepithelial lymphocytes are crucial for gut immunity and maintaining the mucosal barrier.
165 citations,
December 2004 in “Differentiation” BMP signaling is crucial for skin and hair growth.
105 citations,
October 2017 in “Stem cells” Wnt signaling is crucial for skin development and hair growth.
81 citations,
February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.