45 citations,
June 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Understanding hair follicles through various models can help develop new treatments for hair disorders.
1 citations,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
1 citations,
November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Experts met to improve care for ichthyosis patients in Spain.
36 citations,
January 2017 in “Journal of Obstetrics and Gynaecology Research” The review found no clear link between vitamin D receptor gene variations and polycystic ovary syndrome.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
50 citations,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
3 citations,
June 2006 in “Expert Review of Dermatology” The document concludes that hair loss is complex, affects many people, has limited treatments, and requires more research on its causes and psychological impact.
81 citations,
February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
24 citations,
February 2011 in “The American journal of pathology” AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
49 citations,
January 2003 in “American Journal of Clinical Dermatology” Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
5 citations,
September 1986 in “Pediatric Dermatology” A family showed a new condition with inherited hair loss and skin changes, possibly due to one genetic disorder.
29 citations,
January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
January 2022 in “Springer eBooks”
February 2024 in “Scientific reports” Four genes are potential markers for hair loss condition alopecia areata, linked to a specific type of cell death.
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.
December 2021 in “Research Square (Research Square)” Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
11 citations,
January 2010 in “Springer eBooks”
9 citations,
May 2021 in “Frontiers in Cell and Developmental Biology” DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
March 2022 in “Wound practice & research” New treatments for alopecia areata show promise, but standardized guidelines are needed.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
53 citations,
January 2011 in “Diabetes” People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a new way UVB light increases skin pigmentation through the ATP-P2X7 pathway.
August 1996 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that PCOS in adolescents is complex and requires comprehensive care to manage its symptoms and associated health risks.
36 citations,
December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
4025 citations,
December 2003 in “Human Reproduction” The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.
85 citations,
June 2015 in “Scientific Reports” The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
39 citations,
November 2021 in “Clinical Endocrinology” Testosterone replacement is recommended for men with low testosterone levels and symptoms of hypogonadism.
31 citations,
March 2018 in “Frontiers in Immunology” The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.