January 2012 in “Methods in pharmacology and toxicology” TRPV3 could be a target for treating pain, skin disorders, and hair problems, but more research is needed to create effective drugs.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
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.
37 citations,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
5 citations,
October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
55 citations,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
9 citations,
March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
100 citations,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
88 citations,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
38 citations,
July 1989 in “Archives of dermatological research” Testosterone causes hair loss in AGA mice, which are good for testing baldness treatments, and both minoxidil and cyproterone acetate can prevent this hair loss.
12 citations,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
10 citations,
July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
10 citations,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
1 citations,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
April 2024 in “Dermatovenerologiâ, kosmetologiâ” Actinic keratosis is a sun-induced skin condition that can potentially turn into skin cancer and requires various treatments to prevent this.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
April 2017 in “Journal of Dermatological Science” Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
295 citations,
September 2006 in “Cell Cycle” The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
199 citations,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
173 citations,
May 2001 in “Human reproduction update” Oestrogens are key for bone growth during puberty in both boys and girls.
125 citations,
September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
99 citations,
July 2017 in “Clinical Reviews in Allergy & Immunology” New treatments for Alopecia Areata show promise but need to be more effective and affordable.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
70 citations,
October 2020 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
65 citations,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.