Incidental Identification of a Thyroid Hormone Receptor Beta (THRB) Gene Variant in a Family with Autoimmune Thyroid Disease-Reference-Cited by-同舟云学术

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

Published:2013-12 Issue:12 Volume:23 Page:1638-1643
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Larsen Cæcilie C.¹,Dumitrescu Alexandra¹,Guerra-Argüero Laura M.²,Gállego-Suárez Cecillia²,Vazquez-Mellado Alberto³,Vinogradova Maia⁴,Fletterick Robert⁴,Refetoff Samuel¹⁵,Weiss Roy E.¹⁵

Affiliation:

1. Department of Medicine, The University of Chicago, Chicago, Illinois.

2. Endocrinology Service, Hospital Ángeles de Querétaro, Quéretaro, Mexico.

3. Corregidora Laboratory, Hospital Ángeles de Querétaro, Quéretaro, Mexico.

4. Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, California.

5. Department of Pediatrics, The University of Chicago, Chicago, Illinois.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2013.0174

Reference19 articles.

1. Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone12

2. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination

3. Follow-up of newborns with elevated screening T4 concentrations

4. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination

5. A role for helix 3of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone

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1. Effective TRIAC treatment of a THRβ-mutated patient with thyroid hormone resistance;Endocrine;2024-04-01

2. Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease—A case report;Frontiers in Genetics;2023-04-04

3. Resistance to thyroid hormone in a child with thyroid agenesis: A case report with review of the literature;Annals of Medicine & Surgery;2022-05

4. Resistance to Thyroid Hormone Beta: A Focused Review;Frontiers in Endocrinology;2021-03-31

5. 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;Thyroid;2019-03-15