157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
153 citations,
October 2012 in “Skin Pharmacology and Physiology” Caffeine in cosmetics may reduce cellulite, protect skin, and stimulate hair growth, but more research is needed on its use and effects.
138 citations,
November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
[object Object] 112 citations,
January 2014 in “Molecular and cellular therapies” Blocking the Wnt pathway could lead to new treatments for cancer and tissue repair but requires careful development to avoid side effects.
103 citations,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
103 citations,
January 2011 in “Blood” Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
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.
74 citations,
May 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” Both vitiligo and alopecia areata involve an immune response triggered by stress and specific genes, with treatments targeting this pathway showing potential.
74 citations,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
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.
51 citations,
June 2021 in “Signal Transduction and Targeted Therapy” The document concludes that while there are promising methods to control CRISPR/Cas9 gene editing, more research is needed to overcome challenges related to safety and effectiveness for clinical use.
47 citations,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
46 citations,
September 2011 in “Journal of Endocrinology” Natural 5α-reduced glucocorticoids might be anti-inflammatory with fewer side effects than current options.
39 citations,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
39 citations,
January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
33 citations,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
29 citations,
March 2019 in “British Journal of Dermatology” Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
24 citations,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
21 citations,
June 2016 in “Genesis” Researchers identified specific genes that are important for mouse skin cell development and healing.
21 citations,
February 2016 in “Reproductive Biomedicine Online” The conclusion suggests that PCOS may persist due to genetic traits that, while harmful for female fertility, could have provided survival and reproductive benefits to males.
20 citations,
September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
20 citations,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
19 citations,
February 2018 in “Nutrients” Certain zinc transporters are essential for healthy skin and managing zinc in the body could help treat skin problems.
18 citations,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
16 citations,
April 2018 in “Animal Genetics” Researchers found two genes that may explain why some Casertana pigs don't have hair.
[object Object] 15 citations,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
15 citations,
December 2013 Men with more vanadium in their blood and who drink less soy milk are more likely to have hair loss.
14 citations,
June 2021 in “Expert Opinion on Therapeutic Patents” New patents show progress in developing drugs targeting the Wnt pathway for diseases like cancer and hair loss.
11 citations,
February 1989 in “Journal of veterinary medicine. Series A” Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
3 citations,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.