1540 citations,
October 2008 in “Fertility and Sterility” The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
43 citations,
December 2020 in “PLOS Genetics” New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
39 citations,
September 2017 in “The Open Rheumatology Journal” Low serum complement levels in SLE patients don't always match with disease flares; monitoring C3 and C4 is useful, but cell-bound complement products might better indicate disease activity.
32 citations,
January 2005 in “Advances in Biochemical Engineering / Biotechnology” Fetal wounds heal without scarring because of different biological factors, which could help improve adult wound healing.
18 citations,
July 2010 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” The vitamin D receptor helps regulate skin and hair health independently of its usual vitamin D ligand.
7 citations,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
6 citations,
January 2010 in “Springer eBooks” SA linked to mitochondrial issues and oxidative stress, while AGA involves disrupted hair growth genes.
2 citations,
October 2015 in “Human Gene Therapy” The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
76 citations,
May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
67 citations,
December 2013 in “Journal of Biological Chemistry” SCD1 is crucial for skin health and overall energy balance.
50 citations,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
48 citations,
March 2010 in “PloS one” C/EBPalpha and C/EBPbeta are crucial for normal skin and oil gland cell development in adult mice.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
38 citations,
August 2005 in “Veterinary dermatology” A disease causing skin issues in young adult German short-haired pointers is hereditary, with most affected dogs not responding to treatment.
34 citations,
August 2002 in “British Journal of Dermatology” ALA-PDT is effective and safe for chronic X-ray dermatitis, providing complete or partial remission.
25 citations,
March 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Vitamin D Receptor is needed for hair growth in mice but not for skin stem cell maintenance.
25 citations,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
21 citations,
February 2013 in “Clinics in Dermatology” New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
19 citations,
December 2015 in “Journal of Investigative Dermatology” The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
18 citations,
March 2016 in “Journal of Investigative Dermatology” Vitamin D and calcium are essential for normal hair growth.
8 citations,
September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
7 citations,
January 2023 in “Frontiers in Cell and Developmental Biology” Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
7 citations,
November 2014 in “Histochemistry and Cell Biology” The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
3 citations,
September 2021 in “EClinicalMedicine” ALRV5XR effectively increases hair density in men with androgenetic alopecia without adverse effects.
1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.