43 citations,
December 2013 in “Seminars in Cell & Developmental Biology” Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
40 citations,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
37 citations,
April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
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.
36 citations,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
29 citations,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
25 citations,
August 2007 in “Molecular Therapy” Researchers found a safe and effective way to pick genetically modified skin cells with high growth potential using CD24.
21 citations,
August 2011 in “Clinics in Dermatology” Looking at skin can help find and treat serious diseases early.
21 citations,
January 2006 in “Pediatrics” Some diseases can improve the outcomes of other diseases, leading to new treatment possibilities.
17 citations,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
15 citations,
April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
13 citations,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
9 citations,
March 2019 in “Science” Blocking cell death in certain stem cells can improve wound healing and tissue regeneration.
7 citations,
December 2008 in “Expert Review of Dermatology” The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
7 citations,
January 1994 in “Annual Reports in Medicinal Chemistry” Understanding how androgens work is key for creating new treatments for prostate issues and hair/skin conditions.
6 citations,
December 2020 in “Dermatological reviews” COVID-19 may worsen with androgens; anti-androgen drugs could help.
6 citations,
January 2020 in “International Journal of Biological Sciences” Septin4 helps kill colon cancer cells by working with the protein BAX.
5 citations,
September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
4 citations,
March 2006 in “Archives of Dermatology” The conclusion is that dermatologists can improve women's skin health but must overcome cultural and economic barriers to do so.
2 citations,
January 2015 in “Springer eBooks” Early diagnosis and aggressive treatment are crucial for Cicatricial Alopecia, and treatment effectiveness varies among patients.
2 citations,
January 2007 in “Journal of The American Academy of Dermatology” Red and infrared light therapy improves hair growth in balding patients.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations,
July 2015 in “European Journal of Dermatology” CO₂ laser treatment is fast and effective for some benign skin tumors with minimal side effects.
1 citations,
November 2014 in “British journal of medicine and medical research” PCOS and related metabolic issues often run in families.
1 citations,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
December 2023 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.