82 citations
,
October 2019 in “Frontiers in Immunology” Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
80 citations
,
March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
69 citations
,
November 2010 in “Middle East Fertility Society Journal” PCOS affects women's health by increasing the risk of diabetes, heart disease, and reproductive issues.
34 citations
,
May 2017 in “Seminars in Reproductive Medicine” Women with PCOS have a higher risk of diabetes, heart problems, certain cancers, and mental health issues, but early treatment can help manage these risks.
32 citations
,
December 2018 in “Cytokine” Type I interferons play a key role in the development of various skin diseases.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
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.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” New gene identification techniques have improved the understanding and classification of inherited hair disorders.
24 citations
,
July 2011 in “PubMed” Thyroid hormones affect skin texture, hair and nail growth, and can cause skin diseases related to thyroid problems.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
8 citations
,
September 2016 in “Reviews in Endocrine and Metabolic Disorders” Skin health and diseases are closely linked to metabolic processes.
8 citations
,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
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.
2 citations
,
June 2024 in “Anti-Aging Eastern Europe” PCOS symptoms vary by age, affecting diagnosis and treatment.
2 citations
,
December 2022 in “International Journal of Infertility & Fetal Medicine” Obese and lean women with PCOS have different symptoms and need different treatments.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
January 2024 in “Wiadomości Lekarskie” pbn-STAC effectively finds strategies for cellular reprogramming using deep reinforcement learning.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
July 2019 in “International Journal of Advance Research in Community Health Nursing” Raising awareness about PCOS in young females can help prevent long-term health issues.
July 2003 in “Journal of Cutaneous Medicine and Surgery” Stopping certain drugs can improve skin conditions, arsenicosis affects over half of a Bangladeshi village, males are more vulnerable, and certain treatments are effective for warts, acne, and psoriasis. Smoking and drinking are linked to psoriasis in men, a cream helps with a type of skin cancer, and low iron levels don't directly cause chronic hair loss in women.
1744 citations
,
August 2006 in “The Journal of Clinical Endocrinology and Metabolism” Polycystic Ovary Syndrome should be seen mainly as a condition of excess male hormones, with a focus on this in its definition.
28 citations
,
May 2017 in “Molecular ecology” Researchers found genes that control hair color and growth change before the visible coat color changes in snowshoe hares.
271 citations
,
June 2013 in “Human Reproduction” PCOS is common among Chinese women of reproductive age and linked to serious metabolic and reproductive issues, especially in obese women.
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
51 citations
,
November 2011 in “Reproductive Biology and Endocrinology” About 13% of women had idiopathic hirsutism and 8.5% had polycystic ovary syndrome in a group of Iranian women.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.