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Literature DB >> 7930382

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.

P Beck-Peccoz¹, V K Chatterjee, W W Chin, L J DeGroot, J L Jameson, H Nakamura, S Refetoff, S J Usala, B D Weintraub.

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Year: 1994 PMID： 7930382 DOI： 10.1007/bf03348977

Source DB: PubMed Journal: J Endocrinol Invest ISSN： 0391-4097 Impact factor: 4.256

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37 in total

Review 1. Syndromes of thyroid hormone resistance.

Authors: J A Franklyn
Journal: Clin Endocrinol (Oxf) Date: 1991-03 Impact factor: 3.478

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. Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalised thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis.

Authors: C V Boothroyd; B T Teh; N K Hayward; P E Hickman; G J Ward; D P Cameron
Journal: Biochem Biophys Res Commun Date: 1991-07-31 Impact factor: 3.575

4. Variable transcriptional activity and ligand binding of mutant beta 1 3,5,3'-triiodothyronine receptors from four families with generalized resistance to thyroid hormone.

Authors: C A Meier; B M Dickstein; K Ashizawa; J H McClaskey; P Muchmore; S C Ransom; J B Menke; E H Hao; S J Usala; B B Bercu
Journal: Mol Endocrinol Date: 1992-02

5. 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

6. A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

Authors: S J Usala; J B Menke; T L Watson; W E Bérard; C Bradley; A E Bale; R W Lash; B D Weintraub
Journal: J Clin Endocrinol Metab Date: 1991-01 Impact factor: 5.958

7. 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.

Authors: C A Meier; C Parkison; A Chen; K Ashizawa; S C Meier-Heusler; P Muchmore; S Y Cheng; B D Weintraub
Journal: J Clin Invest Date: 1993-10 Impact factor: 14.808

8. Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance.

Authors: A Sakurai; T Miyamoto; I A Hughes; L J DeGroot
Journal: Clin Endocrinol (Oxf) Date: 1993-01 Impact factor: 3.478

9. 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.

Authors: M E Geffner; F Su; N S Ross; J M Hershman; C Van Dop; J B Menke; E Hao; R K Stanzak; T Eaton; H H Samuels
Journal: J Clin Invest Date: 1993-02 Impact factor: 14.808

10. Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation.

Authors: K Takeda; S Balzano; A Sakurai; L J DeGroot; S Refetoff
Journal: J Clin Invest Date: 1991-02 Impact factor: 14.808

3 in total