75 citations,
October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
67 citations,
December 2008 in “Developmental Biology” Msx2 and Foxn1 are both crucial for hair growth and health.
60 citations,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
46 citations,
January 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
41 citations,
June 2010 in “Journal of Investigative Dermatology” New cells are added to the hair's dermal papilla during the active growth phase.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
25 citations,
August 2010 in “Journal of Biological Chemistry” Nuclear Factor I-C is important for controlling hair growth by affecting the TGF-β1 pathway.
23 citations,
June 2010 in “Journal of Investigative Dermatology” A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
1 citations,
November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
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.
33 citations,
July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
6 citations,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
9 citations,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
May 2018 in “European Journal of Dermatology” Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
182 citations,
November 2017 in “Molecular Aspects of Medicine” The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
113 citations,
March 2018 in “Biological reviews/Biological reviews of the Cambridge Philosophical Society” Animals that change color with the seasons mainly do so in response to daylight changes, but climate change is causing camouflage problems that may require evolutionary changes.
58 citations,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
45 citations,
April 2018 in “Nature Reviews Urology” Male genital development is driven by androgen signaling and understanding it could help address congenital anomalies.
42 citations,
September 2017 in “Advances in protein chemistry and structural biology” Surface Plasmon Resonance is a useful tool for studying protein interactions and has potential for future technological advancements.
39 citations,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
39 citations,
March 2018 in “Archives of Dermatological Research” Androgens may block hair growth signals, targeting this could treat hair loss.
34 citations,
October 2017 in “Archivos Argentinos De Pediatria” Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.
32 citations,
May 2018 in “Cell Cycle” Melatonin helps Cashmere goats grow more hair by affecting certain genes and cell pathways.
29 citations,
May 2018 in “Clinical Endocrinology” Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
29 citations,
February 2018 in “Genetics research international” Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
26 citations,
June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
23 citations,
December 2017 in “Scientific Reports” ARL15 is important for fat cell development and the release of the hormone adiponectin.
17 citations,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
16 citations,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.