5 citations
,
September 2022 in “Molecular pharmacology” This article reviews current knowledge on KATP channel drug binding modes through cryogenic electron microscopy, highlighting distinct binding sites in the sulfonylurea receptor and potential mechanisms of drug action, but reports no new experimental results.
91 citations
,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
277 citations
,
July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.