Novel Inactivating Missense Mutations in the Thyrotropin Receptor Gene in Japanese Children with Resistance to Thyrotropin-Reference-Cited by-同舟云学术

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Novel Inactivating Missense Mutations in the Thyrotropin Receptor Gene in Japanese Children with Resistance to Thyrotropin

Published:2001-06 Issue:6 Volume:11 Page:551-559
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Nagashima Tomohisa,Murakami Masami,Onigata Kazumichi,Morimura Tadashi,Nagashima Kanji,Mori Masatomo,Morikawa Akihiro

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/105072501750302859

Reference21 articles.

1. The thyrotropin receptor and the regulation of thyrocyte function and growth

2. Somatic and germline mutations of the TSH receptor gene in thyroid diseases

3. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

4. Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

5. Congenital Hyperthyroidism Caused by a Mutation in the Thyrotropin-Receptor Gene

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1. Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II;Hormones;2024-03-25

2. Mechanisms of thyrotropin receptor–mediated phenotype variability deciphered by gene mutations and M453T-knockin model;JCI Insight;2024-01-09

3. Genome-wide association studies for thyroid physiology and diseases;Endocrine Journal;2023

4. Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7;Journal of Endocrinological Investigation;2021-11-15

5. Genetics of primary congenital hypothyroidism—a review;Hormones;2021-01-05

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