A novel thyroid hormone receptor-β mutation that fails to bind nuclear receptor corepressor in a patient as an apparent cause of severe, predominantly pituitary resistance to thyroid hormone

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 5, 2006, Pages 1887-1895

  Wu, Sharon Y ^a   Cohen, Ronald N ^a   Simsek, Enver ^b   Senses, Dursun A ^b   Yar, Nese E ^b   Grasberger, Helmut ^a   Noel, Janet ^a   Refetoff, Samuel ^a   Weiss, Roy E ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b ABANT IZZET BAYSAL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CELL NUCLEUS RECEPTOR; OCTREOTIDE; PROPYLTHIOURACIL; RECOMBINANT HORMONE; RETINOID; THYROID HORMONE RECEPTOR BETA; THYROTROPIN; TIRATRICOL;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; DIAPHORESIS; DISEASE SEVERITY; DOSE RESPONSE; FRAMESHIFT MUTATION; GEL MOBILITY SHIFT ASSAY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HYPERTHYROIDISM; IN VITRO STUDY; IN VIVO STUDY; LIGAND BINDING; MALE; MEDICAL ERROR; NEWBORN; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN BINDING; PROVOCATION TEST; SCHOOL CHILD; SUBTOTAL THYROIDECTOMY; TERTIARY HEALTH CARE; THYROID HORMONE RESISTANCE; THYROTROPIN BLOOD LEVEL; UNIVERSITY HOSPITAL;

AMINO ACID SEQUENCE; CHILD; DNA-BINDING PROTEINS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; FIBROBLASTS; FRAMESHIFT MUTATION; GENES, REPORTER; HISTONE ACETYLTRANSFERASES; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; NUCLEAR PROTEINS; PITUITARY GLAND; PLASMIDS; REPRESSOR PROTEINS; THYROID HORMONE RECEPTORS BETA; THYROID HORMONE RESISTANCE SYNDROME; TRANSCRIPTION FACTORS; TRANSFECTION;

MAMMALIA;

EID: 33646414780     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2428     Document Type: Article

References (26)

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