A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH-Reference-Cited by-同舟云学术

A family of RTHβ with p.R316C mutation presenting occasional syndrome of inappropriate secretion of TSH

Published:2015 Issue:3 Volume:62 Page:251-260
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Ueda Yohei¹,Tagami Tetsuya²¹,Tamanaha Tamiko¹,Kakita Maiko¹,Tanase-Nakao Kanako¹,Nanba Kazutaka¹,Usui Takeshi²,Naruse Mitsuhide²,Shimatsu Akira²

Affiliation:

1. Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto 612-8555, Japan

2. Clinical Research Institute for Endocrine and Metabolic Diseases, National Hospital Organization Kyoto Medical Center, Kyoto 612-8555, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference21 articles.

1. 1. Refetoff S, DeWind LT, DeGroot LJ (1967) Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 27: 279-294.

2. 2. Weiss RE, Hayashi Y, Nagaya T, Petty KJ, Murata Y, et al. (1996) Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor. J Clin Endocrinol Metab 81: 4196-4203.

3. 3. Sakurai A, Takeda K, Ain K, Ceccarelli P, Nakai A, et al. (1989) Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta. Proc Natl Acad Sci U S A 86: 8977-8981.

4. 4. Bochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, et al. (2012) A mutation in the thyroid hormone receptor alpha gene. N Engl J Med 366: 243-249.

5. 5. Lazar MA (1993) Thyroid hormone receptors: multiple forms, multiple possibilities. Endocr Rev 14: 184-193.

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Thyroid hormone receptor beta: Relevance in human health and diseases;Endocrine and Metabolic Science;2023-12

2. Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone;European Journal of Endocrinology;2022-01-01

3. An Update on the Pathophysiology and Diagnosis of Inappropriate Secretion of Thyroid-Stimulating Hormone;International Journal of Molecular Sciences;2021-06-21

4. An overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders;Endocrine Journal;2021

5. Abnormal thyroid hormone response to TRH in a case of macro-TSH and the cut-off value for screening cases of inappropriate TSH elevation;Endocrine Journal;2020