36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
25 citations,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
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November 2018 in “International Journal of Current Pharmaceutical Research” PCOS is a hormonal disorder causing symptoms like irregular periods and acne, and increases the risk of diabetes and heart disease.
68 citations,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
September 2016 in “JAMA Dermatology” Melanoma patients can learn to check their skin, early balding in men may indicate similar risks as PCOS in women, certain criteria can help predict skin cancer behavior, small skin cancer may not need extra therapy after surgery, and sterile gloves don't reduce infection in minor surgeries.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
April 2023 in “Journal of Investigative Dermatology” Scientists created a 3D skin model that shows typical signs of aging, which can help in aging research.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The Arabidopsis rhd2 mutant is more sensitive to drought because of changes in cell membrane proteins and cell structure.
October 2023 in “Journal of the Endocrine Society” Losing weight, possibly through bariatric surgery, is key to improving PCOS and hyperandrogenism symptoms in obese patients.
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).
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.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
30 citations,
June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
4 citations,
May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
May 2008 in “Hair transplant forum international” A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
4 citations,
August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
October 2010 in “Reproductive Biomedicine Online” Women with PCOS and androgenic alopecia have different triglyceride metabolism compared to those without hair loss.
160 citations,
January 2017 in “Development” Blood vessels and specific genes help turn cartilage into bone when bones heal.
22 citations,
January 2020 in “Veterinary dermatology” The conclusion is that certain dog and cat breeds are prone to Malassezia dermatitis, which can be diagnosed with skin tests and treated with antifungal shampoos or medications, and preventing relapses involves managing underlying issues and maintaining good hygiene.
37 citations,
January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
54 citations,
December 2007 in “Best Practice & Research Clinical Endocrinology & Metabolism” Targeting glucocorticoid action might help treat type-2 diabetes, but human trials are needed.
4 citations,
November 2016 in “Pediatric Clinics of North America” The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
17 citations,
June 2018 in “Sexual Medicine Reviews” The document concludes that non-operative treatment for gender dysphoria is safe and effective, and hormone therapy does not increase cancer risk.
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Losing weight and eating better are key to managing metabolic syndrome and its related conditions.
30 citations,
March 2001 in “Environmental Health Perspectives” Small changes in hormones can significantly impact health, showing the importance of sensitive testing for chemicals that disrupt hormones.
101 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” 5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
August 2023 in “Scientific reports” Human stem cells were turned into cells similar to those that help grow hair and showed potential for hair follicle formation.
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.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
19 citations,
November 2021 in “Reviews in endocrine and metabolic disorders” Sex hormones like estrogen and testosterone may affect COVID-19 severity differently in men and women, potentially influencing prevention and treatment strategies.