26 citations
,
June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
2 citations
,
December 2025 in “Annals of Medicine” Targeting senescent cells may offer new treatments for PCOS.
Loss of the p53 gene alone causes tumors, and losing both p53 and Rb genes speeds up aggressive skin cancer.
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.
January 2009 in “UWA Profiles and Research Repository (University of Western Australia)” Women with PCOS have higher cardiometabolic risks, but these may be reduced.
1 citations
,
October 2023 in “Journal of Mind and Medical Sciences” Early detection and personalized treatment are crucial to prevent Barrett's esophagus from becoming cancer.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Early recognition and comprehensive management of PCOS can prevent long-term health issues.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
July 2015 in “NEJM Journal Watch” Diagnosing and treating PCOS in young people is difficult.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
111 citations
,
November 2010 in “Human Reproduction” South Asian women with PCOS are more likely to have metabolic issues and central obesity, and simple measures like waist size and blood pressure can help identify these risks early.
15 citations
,
April 2019 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
31 citations
,
April 2005 in “CRC Press eBooks” The document explains that Polycystic Ovary Syndrome is a complex condition that is hard to diagnose and manage, but it doesn't talk about hair loss or hair growth.
22 citations
,
January 2014 in “Indian Journal of Endocrinology and Metabolism” Family members of North Indian women with PCOS have a high rate of metabolic syndrome.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
1 citations
,
October 2022 in “Veterinary pathology” Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
32 citations
,
June 2019 in “Frontiers in Endocrinology” Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
12 citations
,
March 2015 in “Pediatric Dermatology” Early diagnosis and treatment of PCOS in young people is important to prevent long-term health problems.
11 citations
,
March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
11 citations
,
November 2017 in “Hong Kong Medical Journal” Polycystic ovary syndrome increases the risk of diabetes, heart disease, and endometrial cancer, and requires early treatment to manage these risks.
40 citations
,
December 2010 in “Human Genetics” 1 citations
,
July 2023 in “Clinical Cosmetic and Investigational Dermatology” Familial dyskeratotic comedones are a rare, benign skin disorder that is hard to treat.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
1947 citations
,
September 1995 in “New England journal of medicine/The New England journal of medicine” PCOS is a common hormonal disorder causing irregular periods and increased hair growth, linked to insulin resistance and long-term health issues.