1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
7 citations,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
3 citations,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
January 2017 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
23 citations,
May 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
23 citations,
January 2014 in “International Journal of Biological Sciences” African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
17 citations,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
7 citations,
October 2019 in “Clinical, Cosmetic and Investigational Dermatology” Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
195 citations,
July 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
53 citations,
January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Reduced AR gene methylation may cause early pubic hair growth in girls.
48 citations,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
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.
44 citations,
January 2008 in “Fertility and Sterility” Longer CAG repeat lengths in the androgen receptor gene are linked to higher testosterone levels in women with PCOS.
15 citations,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
14 citations,
December 2016 in “Sexual Medicine” Finasteride side effects in young men may be linked to specific gene variations.
9 citations,
March 2009 in “Psychoneuroendocrinology” Certain gene variations are linked to better memory in healthy Chinese women.
8 citations,
October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
1 citations,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
1 citations,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
51 citations,
June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
41 citations,
March 2012 in “Clinical and Experimental Dermatology” G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
25 citations,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
10 citations,
May 2012 in “PloS one” Low ERCC3 gene activity is linked to non-pigmented hair growth.
93 citations,
June 2001 in “The Journal of Clinical Endocrinology and Metabolism” Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
27 citations,
December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
13 citations,
November 2013 in “Journal of Endocrinology/Journal of endocrinology” Vitamin D receptor helps control hair growth genes in skin cells.