Literature DB >> 8786093

A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.

H Kijima1, M Kubo, T Ishizuka, M Kakinuma, T Koike.   

Abstract

Direct sequencing of exon 9 of the thyroid hormone receptor beta (TRbeta) gene in a kindred with resistance to thyroid hormone revealed a substitution of threonine for methionine in codon 313 in one allele resulting from a T to C transition. This is a novel missense mutation that resides in one of the two mutational "hot-spot" regions of the TR beta gene suggesting altered triiodothyronine binding to this mutant receptor.

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Year:  1996        PMID： 8786093     DOI： 10.1007/bf02185783

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

Authors:  R Parrilla; A J Mixson; J A McPherson; J H McClaskey; B D Weintraub
Journal:  J Clin Invest       Date:  1991-12       Impact factor: 14.808

2.  Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene.

Authors:  K Takeda; A Sakurai; L J DeGroot; S Refetoff
Journal:  J Clin Endocrinol Metab       Date:  1992-01       Impact factor: 5.958

3.  The c-erb-A gene encodes a thyroid hormone receptor.

Authors:  C Weinberger; C C Thompson; E S Ong; R Lebo; D J Gruol; R M Evans
Journal:  Nature       Date:  1986 Dec 18-31       Impact factor: 49.962

4.  Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta.

Authors:  A Sakurai; K Takeda; K Ain; P Ceccarelli; A Nakai; S Seino; G I Bell; S Refetoff; L J DeGroot
Journal:  Proc Natl Acad Sci U S A       Date:  1989-11       Impact factor: 11.205

5.  Structural analysis of human thyroid hormone receptor beta gene.

Authors:  A Sakurai; A Nakai; L J DeGroot
Journal:  Mol Cell Endocrinol       Date:  1990-06-18       Impact factor: 4.102
  5 in total
  2 in total

1.  Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.

Authors:  S Pongjantarasatian; S Wacharasindhu; S Tongkobpetch; K Suphapeetiporn; V Shotelersuk
Journal:  J Endocrinol Invest       Date:  2011-07-27       Impact factor: 4.256

Review 2.  Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Authors:  Paola Concolino; Alessandra Costella; Rosa Maria Paragliola
Journal:  Mol Diagn Ther       Date:  2019-06       Impact factor: 4.074
  2 in total

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