Nomenclature of thyroid hormone receptor ß gene mutations in resistance to thyroid hormone First Workshop on Thyroid Hormone Resistance, July 10–11, 1993, Cambridge, U.K.
- 4 April 1994
- journal article
- review article
- Published by Springer Nature in Journal of Endocrinological Investigation
- Vol. 17 (4) , 283-287
- https://doi.org/10.1007/bf03348977
Abstract
No abstract availableKeywords
This publication has 40 references indexed in Scilit:
- Interaction of human beta 1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor beta. T3 response element-dependent dominant negative potency.Journal of Clinical Investigation, 1993
- Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.Journal of Clinical Investigation, 1993
- Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.Journal of Clinical Investigation, 1993
- An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.Journal of Clinical Investigation, 1993
- Characterization of a novel mutant human thyroid hormone receptor β in a family with hereditary thyroid hormone resistanceClinical Endocrinology, 1993
- Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistanceJournal of Clinical Endocrinology & Metabolism, 1992
- Thyroid hormone resistance syndromesTrends in Endocrinology & Metabolism, 1991
- Single base mutation in the hormone binding domain of the thyroid hormone receptor β gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysisBiochemical and Biophysical Research Communications, 1991
- Thyroid hormone and DNA binding properties of A mutant c-erbAβ receptor associated with generalized thyroid hormone resistanceBiochemical and Biophysical Research Communications, 1990
- Structural analysis of human thyroid hormone receptor β geneMolecular and Cellular Endocrinology, 1990