10 citations,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
10 citations,
November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
9 citations,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
7 citations,
April 1992 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Women with non-classical congenital adrenal hyperplasia have higher levels of certain steroids, which can be reduced by treatment.
6 citations,
October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
5 citations,
November 2022 in “Animal Genetics” Genomic research can help improve the quality and production of natural fibers in animals.
5 citations,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
5 citations,
December 2021 in “Pediatric investigation” Testosterone undecanoate safely and effectively increased penis size in male children with 5-alpha-reductase deficiency.
4 citations,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
2 citations,
July 2019 in “PeerJ” Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.
1 citations,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
January 2024 in “Circulation” Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
January 2020 in “Archives of Medicine and Health Sciences” Certain immune molecules and stress affect hair loss, and while genes play a role, more research is needed to fully understand and treat it.
The mutation helps mice handle heat better without affecting hair growth.
September 2008 in “Pediatric Rheumatology” Two children with lysinuric protein intolerance showed symptoms similar to lupus.
May 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.
949 citations,
January 2001 in “Cell” Adult mouse skin contains stem cells that can create new hair, skin, and oil glands.
854 citations,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
408 citations,
May 2004 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Dutasteride more effectively lowers DHT levels in men with enlarged prostates than finasteride.
266 citations,
January 2016 in “Development” YAP and TAZ are crucial for skin cell growth and repair.
231 citations,
October 1999 in “Journal of Clinical Investigation” Activating the Sonic hedgehog gene in mice can start the hair growth phase.
189 citations,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
176 citations,
February 2006 in “Cancer Research” Patched1 helps prevent tumors by controlling cell growth.
169 citations,
February 2018 in “Immunity” Inactive stem cells in hair follicles and muscles can avoid detection by the immune system.