20 citations,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
18 citations,
July 2010 in “Expert Review of Endocrinology & Metabolism” The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
14 citations,
February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
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,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
12 citations,
June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
11 citations,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
11 citations,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
11 citations,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
11 citations,
February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
8 citations,
January 2007 in “International journal of experimental pathology” Hairless HRS/J mice resist Bacillus anthracis skin infections due to high numbers of immune cells, not because they lack hair follicles.
7 citations,
April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
6 citations,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
5 citations,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
4 citations,
January 2013 in “Humana Press eBooks” Scientists found ways to identify and collect skin stem cells, which vary by skin area and are delicate.
4 citations,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
2 citations,
January 2022 in “International Journal of Medical Sciences” Kartogenin may help treat hair loss by promoting hair growth and extending the hair growth phase.
2 citations,
May 2021 in “Bioengineering” Blood stem cells are diverse, influenced by many factors, and understanding them is key for progress in regenerative medicine.
2 citations,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
2 citations,
May 2018 in “International journal of reproduction, contraception, obstetrics and gynecology” Ovarian hemangioma is a rare, benign tumor that can be treated effectively with surgical removal.
2 citations,
January 2010 Tianzhu white yak hair varies in structure and density between fuzz and coarse hair.
1 citations,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
1 citations,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations,
November 2020 in “Biochemical Society transactions” Different types of skin stem cells can change and adapt, which is important for developing new treatments.
1 citations,
April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
1 citations,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations,
October 2010 in “Cambridge University Press eBooks” The document suggests new ways to assess and diagnose hyperandrogenism to improve accuracy.
December 2023 in “Revista Urología Colombiana / Colombian Urology Journal” More research is needed to find effective treatments for sickle cell disease-related priapism.