A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the “Hot” Region in the THRB Gene-Reference-Cited by-同舟云学术

A Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the “Hot” Region in the THRB Gene

Published:2019-03-15 Issue:3 Volume:29 Page:449-451
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Censi Simona¹,Barollo Susi¹,Watutantrige-Fernando Sara¹,Manso Jacopo¹,Ferrara Alfonso Massimiliano²,Mian Caterina¹

Affiliation:

1. Endocrinology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy.

2. Familial Cancer Clinic and Oncoendocrinology, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2018.0201

Reference6 articles.

1. Classification and Proposed Nomenclature for Inherited Defects of Thyroid Hormone Action, Cell Transport, and Metabolism

2. 2. DumitrescuAM, RefetoffS 2000 Impaired sensitivity to thyroid hormone: defects of transport, metabolism and Action. In: De GrootLJ, ChrousosG, DunganK, et al. (eds) Endotext. MDText.com, Inc., South Dartmouth, MA.

3. Incidental Identification of a Thyroid Hormone Receptor Beta (THRB) Gene Variant in a Family with Autoimmune Thyroid Disease

4. Thyroid Hormone Resistance Syndrome Manifests as an Aberrant Interaction between Mutant T3 Receptors and Transcriptional Corepressors

5. Rearrangements in Thyroid Hormone Receptor Charge Clusters That StabilizeBound 3,5′,5-Triiodo-L-thyronine and Inhibit HomodimerFormation

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2. Thyroid hormone resistance: Mechanisms and therapeutic development;Molecular and Cellular Endocrinology;2022-08

3. Structural insights revealed by two novel THRB mutations;Endocrine;2020-01-04

4. Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ);Molecular Diagnosis & Therapy;2019-04-11