260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
May 2024 in “Biochemical pharmacology” Blocking CISD1 reduces hearing loss from cisplatin in mice.
65 citations,
June 2003 in “EMBO journal” Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.
421 citations,
January 2015 in “Chemical Society Reviews” Improving artificial vascular grafts requires better materials and surface designs to reduce blood clotting and support blood vessel cell growth.