Energy Citations Database

Bibliographic Citation

 
Document
For copies of Journal Articles, please contact the Publisher or your local public or university library and refer to the information in the Resource Relation field.
For copies of other documents, please see the Availability, Publisher, Research Organization, Resource Relation and/or Author (affiliation information) fields and/or Document Availability.
DOI http://dx.doi.org/10.1210/jc.79.1.323
Title Three new mutations of thyroid hormone receptor-{beta} associated with resistance to thyroid hormone
Creator/Author Bartolone, L. ; Regalbuto, C. ; Benvenga, S. ; Filetti, S. ; Trimarchi, F. ; Pontecorvi, A. [Catholic Univ., Rome (Italy)]
Publication Date1994 Jul 01
OSTI IdentifierOSTI ID: 54492
Other Number(s)JCEMAZ; ISSN 0021-972X
Resource TypeJournal Article
Resource RelationJournal of Clinical Endocrinology and Metabolism ; VOL. 79 ; ISSUE: 1 ; PBD: Jul 1994
Subject55 BIOLOGY AND MEDICINE, BASIC STUDIES ; THYROID HORMONES; METABOLIC DISEASES; RECEPTORS; GENE MUTATIONS
Description/Abstract Three novel point mutations at nucleotides 1249, 1282, and 1614 (exons 9 and 10) of the human thyroid hormone receptor-{beta} gene were observed in six individuals affected by the syndrome of resistance to thyroid hormone. All three mutations occurred in a heterozygous pattern and caused the following changes in the mature form of the receptor protein: Asp{sup 322} to Asn, Glu{sup 333} to Gln, and Lys{sup 443} to Asn, respectively. The first and third point mutations arose in two unrelated families from eastern Sicily, whereas the second concerned an individual from southern Calabria, apparently presenting a sporadic form of the resistance syndrome. The clinical and biochemical features of resistance to thyroid hormone, both before and after the administration of thyroid hormones, highlight the striking intrafamilial heterogeneity in the phenotypical presentation of the syndrome. 7 refs., 3 figs., 1 tab.
Country of PublicationUnited States
LanguageEnglish
Formatpp. 323-326 ; PL:
System Entry Date2001 May 03

Top