29 citations,
June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
32 citations,
June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
1 citations,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
47 citations,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.