ArticleThe Journal of clinical investigation1990
A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds.
Article in The Journal of clinical investigation, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 183 citations in OpenAlex.
- Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review.Clinical case reports · 2021Article
- Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).Molecular diagnosis & therapy · 2019Review
- The actions of thyroid hormone signaling in the nucleus.Molecular and cellular endocrinology · 2017Review
- Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.Endocrine reviews · 2016Review
- Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.Thyroid : official journal of the American Thyroid Association · 2014Article
- Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.European thyroid journal · 2014Article
- Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.The Journal of clinical endocrinology and metabolism · 2014Article
- Nuclear hormone receptor functions in keratinocyte and melanocyte homeostasis, epidermal carcinogenesis and melanomagenesis.FEBS letters · 2013Review
- Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.Journal of endocrinological investigation · 2012Article
- Complete activation of thyroid hormone receptor β by T3 is essential for normal cochlear function and morphology in mice.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2011Article
- Approach to the patient with resistance to thyroid hormone and pregnancy.The Journal of clinical endocrinology and metabolism · 2010Article
- A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
- Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2009Article
- Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family.Journal of endocrinological investigation · 2005Article
- Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors.Molecular endocrinology (Baltimore, Md.) · 1997Article
- Tissue-specific distribution of a novel C-terminal truncation retinoic acid receptor mutant which acts as a negative repressor in a promoter- and cell-type-specific manner.Molecular and cellular biology · 1995Article
- The tau 4 activation domain of the thyroid hormone receptor is required for release of a putative corepressor(s) necessary for transcriptional silencing.Molecular and cellular biology · 1995Article
- Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.The Journal of clinical investigation · 1994Article
- Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone.The Journal of clinical investigation · 1994Article
- Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.Journal of endocrinological investigation · 1994Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Generalized thyroid hormone resistance (GTHR) is a disorder of thyroid hormone action that we have previously shown to be tightly linked to one of the two thyroid hormone receptor genes, c-erbA beta, in a single kindred, A. We now show that in two other kindreds, B and D, with differing phenotypes, there is also linkage between c-erbA beta and GTHR. The combined maximum logarithm of the odds score for all three kindreds at a recombination fraction of 0 was 5.77. In vivo studies had shown a triiodothyronine (T3)-binding affinity abnormality in nuclear receptors of kindred A, and we therefore investigated the defect in c-erbA beta in this kindred by sequencing a major portion of the T3-binding domain in the 3'-region of fibroblast c-erbA beta cDNA and leukocyte c-erbA beta genomic DNA. A base substitution, cytosine to adenine, was found at cDNA position 1643 which altered the proline codon at position 448 to a histidine. By allelic-specific hybridization, this base substitution was found in only one allele of seven affected members, and not found in 10 unaffected members of kindred A, as expected for a dominant disease. Also, this altered base was not found in kindreds B or D, or in 92 random c-erbA beta alleles. These results and the fact that the mutation is predicted to alter the secondary structure of the crucial T3-binding domain of the c-erbA beta receptor suggest this mutation is an excellent candidate for the genetic cause of GTHR in kindred A. Different mutations in the c-erbA beta gene are likely responsible for the variant phenotypes of thyroid hormone resistance in kindreds B and D.
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