A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
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.
100 citations,
June 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.
82 citations,
September 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
74 citations,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
52 citations,
June 2009 in “Current Opinion in Endocrinology, Diabetes and Obesity” The document concludes that hair transplantation and gene therapy may be important for future hair loss treatment.
47 citations,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
46 citations,
September 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
42 citations,
March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
39 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
25 citations,
March 2012 in “Journal of oncology pharmacy practice” An 81-year-old man's white hair began to regain its original color while he was treated with lenalidomide, suggesting that graying hair might be reversible.
17 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
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.
7 citations,
January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.
7 citations,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
5 citations,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations,
May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
4 citations,
January 2014 in “Dermatology” A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
2 citations,
November 2004 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
January 2018 in “Stem cell biology and regenerative medicine” The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
October 2010 in “Reproductive Biomedicine Online” A new method can almost perfectly distinguish adenomyosis from similar conditions using blood tests.
308 citations,
September 2010 in “Nucleic acids research” Increasing mir-302 turns human hair cells into stem cells by changing gene regulation and demethylation.
242 citations,
February 2016 in “Science” Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.
237 citations,
December 2001 in “Urology” Blocking the enzyme 5α-reductase can shrink the prostate and help treat enlarged prostate issues.
234 citations,
September 2004 in “Clinical cancer research” BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
187 citations,
January 1994 in “The New England Journal of Medicine” Finasteride treats enlarged prostate and may help with baldness, but effects on sexual function and male fetuses are unclear.