Article
Vitamin D receptors from patients with resistance to 1,25-dihydroxyvitamin D3: point mutations confer reduced transactivation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner.
Molecular endocrinology (Baltimore, Md.) - 1 Dec 1996
Whitfield G K, Selznick S H, Haussler C A, Hsieh J C, Galligan M A, Jurutka P W, Thompson P D, Lee S M, Zerwekh J E, Haussler M R
Abstract excerpt
Hereditary hypocalcemic vitamin D-resistant rickets is attributable to defects in the nuclear receptor for 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3]. Two novel point mutations (I314S and R391C) identified in the hormone-binding domain of the human vitamin D receptor (VDR) from patients with hereditary hypocalcemic vitamin D-resistant rickets confer the receptor with sharply reduced 1,25-(OH)2D3-dependent...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.