The Role of CBP/p300 Interactions and Pit-1 Dimerization in the Pathophysiological Mechanism of Combined Pituitary Hormone Deficiency
Author(s) -
Ronald N. Cohen,
Thierry Brue,
Karuik,
Christine Houlihan,
Fredric E. Wondisford,
S. Radovick
Publication year - 2006
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2005-1211
Subject(s) - mechanism (biology) , pathophysiology , pituitary hormones , neuroscience , hormone , chemistry , endocrinology , medicine , biology , physics , quantum mechanics
Combined pituitary hormone deficiency (CPHD) in humans is caused by mutations of pituitary-specific transcription factors such as Pit-1. Although many patients with CPHD have an autosomal recessive disorder caused by a Pit-1 DNA-binding mutation, there are a number of reports of mutant Pit-1 molecules that either by prediction or through experimentation bind normally to DNA.
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