January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
174 citations,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
66 citations,
January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
25 citations,
June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
1 citations,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
April 2003 in “Experimental Dermatology” The workshop highlighted the genetic links and psychological impacts of hair loss and skin disorders.
103 citations,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
77 citations,
May 2012 in “Expert Opinion on Emerging Drugs” New treatments for male hypogonadism are effective and should be personalized.
54 citations,
July 2002 in “Clinical and Experimental Dermatology” DHT, a testosterone byproduct, causes male pattern baldness.
35 citations,
May 2022 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Androgens like testosterone are important hormones for both men and women, made differently in each sex and affecting the body by regulating genes and quick interactions with cell components.
31 citations,
January 2003 in “Dermatology” Steroidogenic isoenzymes may help improve treatments for common hair loss.
25 citations,
June 2012 in “Endocrine” PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.
4 citations,
December 2012 in “Human Biology” The most different genetic segment between Africans and East Asians is the EDA2R/AR region, with two main types influenced by population changes and natural selection, and linked to baldness.
1 citations,
June 2019 in “Innovare journal of medical sciences” Polycystic Ovary Syndrome (PCOS) is a hormonal disorder in women that can cause infertility and other health issues, and it may be improved by treatments that increase insulin sensitivity.
March 2023 in “Seminars in reproductive medicine” PCOS often leads to sleep problems, especially obstructive sleep apnea, affecting overall health.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
PCOS is a common hormonal disorder with symptoms like irregular periods and excess hair growth, managed with lifestyle changes and medications.
62 citations,
April 2016 in “Best Practice & Research in Clinical Obstetrics & Gynaecology” The conclusion is that there's a need for a new conference to establish stricter guidelines for diagnosing Polycystic Ovary Syndrome (PCOS).
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.
10 citations,
September 2022 in “Animals” Certain genes affect udder shape in Holstein cows, important for health and milk production.
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.
18 citations,
July 2019 in “Clinical Endocrinology” Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
1 citations,
November 2023 in “Reproductive biology and endocrinology” Most women with PCOS have insulin resistance, especially those with phenotype B.
15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
44 citations,
December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
53 citations,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
1 citations,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
64 citations,
November 2012 in “EMBO reports” Lamins are vital for cell survival, organ development, and preventing premature aging.