A 44-year-old woman with Down's syndrome was diagnosed with both rheumatoid and gouty arthritis and treated with multiple medications.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
242 citations,
February 2016 in “Science” Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.
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.
165 citations,
September 2003 in “Toxicology and applied pharmacology” Blocking COX, especially COX-2, in the skin can reduce inflammation and pain and may help prevent skin cancer.
149 citations,
July 2002 in “Dermatologic clinics” Patients with certain skin symptoms and high ANA titers should be monitored for potential systemic lupus.
144 citations,
July 2015 in “Clinical, Cosmetic and Investigational Dermatology” Alopecia areata is a common autoimmune disease affecting about 2% of people, causing significant disability and often associated with mental health issues and other autoimmune conditions.
103 citations,
June 2018 in “International Journal of Molecular Sciences” FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
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,
May 2012 in “Human Reproduction Update” Women with PCOS may take longer to get pregnant but can have a normal family size, and should manage their overall health to reduce long-term health risks.
82 citations,
June 2020 in “Inflammation Research” Skin problems in COVID-19 patients are rare and may be due to the body's complex immune response or blood clotting issues.
82 citations,
March 2016 in “Autoimmunity reviews” Animal models have helped understand hair loss from alopecia areata and find new treatments.
82 citations,
September 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
80 citations,
June 2020 in “Dermatopathology” COVID-19 can cause various skin lesions, which may result from the virus and immune response, and are not directly linked to illness severity.
77 citations,
July 2020 in “Cell” Muscles and nerves that cause goosebumps also help control hair growth.
75 citations,
August 2018 in “Biochemical pharmacology” Targeting the skin's endocannabinoid system could help treat skin disorders.
75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
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.
55 citations,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
50 citations,
November 2010 in “Otolaryngologic Clinics of North America” Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
49 citations,
April 2000 in “Journal of The American Academy of Dermatology” Despite progress in treatment, the exact cause of Alopecia areata is still unknown.
47 citations,
May 2020 in “Cardiovascular Research” The document concludes that future heart disease research should account for sex-specific differences to improve diagnosis, treatment, and outcomes.
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,
April 2016 in “Journal of Investigative Dermatology” New genes found linked to balding, may help develop future treatments.
46 citations,
September 2011 in “Movement Disorders” Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
45 citations,
July 2009 in “Journal of Investigative Dermatology” The S100A4 protein is more common in psoriatic skin and could be a target for treating psoriasis.
42 citations,
November 2002 in “The American journal of pathology” Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
42 citations,
October 2009 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.