Literature DB >> 7616549

Phenotypic variability in patients with generalised resistance to thyroid hormone.

J Pohlenz1, S Wirth, A Winterpacht, H Wemme, B Zabel, W Schönberger.   

Abstract

Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.

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Year:  1995        PMID： 7616549      PMCID： PMC1050437          DOI： 10.1136/jmg.32.5.393

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 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.  Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA beta gene.

Authors:  S J Usala; A E Bale; N Gesundheit; C Weinberger; R W Lash; F E Wondisford; O W McBride; B D Weintraub
Journal:  Mol Endocrinol       Date:  1988-12

3.  Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone.

Authors:  S Refetoff; L T DeWind; L J DeGroot
Journal:  J Clin Endocrinol Metab       Date:  1967-02       Impact factor: 5.958

4.  Multiple genetic factors in the heterogeneity of thyroid hormone resistance.

Authors:  R E Weiss; C Marcocci; G Bruno-Bossio; S Refetoff
Journal:  J Clin Endocrinol Metab       Date:  1993-01       Impact factor: 5.958

5.  Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.

Authors:  A J Mixson; P Hauser; G Tennyson; J C Renault; D L Bodenner; B D Weintraub
Journal:  J Clin Invest       Date:  1993-05       Impact factor: 14.808

6.  Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta.

Authors:  S Sasaki; H Nakamura; T Tagami; Y Miyoshi; T Nogimori; T Mitsuma; H Imura
Journal:  J Clin Endocrinol Metab       Date:  1993-05       Impact factor: 5.958

7.  Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations.

Authors:  A J Mixson; R Parrilla; S C Ransom; E A Wiggs; J H McClaskey; P Hauser; B D Weintraub
Journal:  J Clin Endocrinol Metab       Date:  1992-10       Impact factor: 5.958

Review 8.  Thyroid hormone resistance syndromes.

Authors:  M T McDermott; E C Ridgway
Journal:  Am J Med       Date:  1993-04       Impact factor: 4.965

9.  The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.

Authors:  Y Hayashi; O E Janssen; R E Weiss; Y Murata; H Seo; S Refetoff
Journal:  J Clin Endocrinol Metab       Date:  1993-01       Impact factor: 5.958

10.  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.

Authors:  R E Weiss; M Weinberg; S Refetoff
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808
  10 in total
  3 in total

1.  A mechanism for pituitary-resistance to thyroid hormone (PRTH) syndrome: a loss in cooperative coactivator contacts by thyroid hormone receptor (TR)beta2.

Authors:  Sangho Lee; Briana M Young; Wei Wan; Ivan H Chan; Martin L Privalsky
Journal:  Mol Endocrinol       Date:  2011-05-26

2.  Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors.

Authors:  S M Yoh; V K Chatterjee; M L Privalsky
Journal:  Mol Endocrinol       Date:  1997-04

Review 3.  Resistance to Thyroid Hormone Beta: A Focused Review.

Authors:  Theodora Pappa; Samuel Refetoff
Journal:  Front Endocrinol (Lausanne)       Date:  2021-03-31       Impact factor: 5.555
  3 in total

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