• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

A family with complete resistance to thyrotropin-releasing hormone.

作者信息

Bonomi Marco, Busnelli Marta, Beck-Peccoz Paolo, Costanzo Daniela, Antonica Francesco, Dolci Claudia, Pilotta Alba, Buzi Fabio, Persani Luca

出版信息

N Engl J Med. 2009 Feb 12;360(7):731-4. doi: 10.1056/NEJMc0808557.

DOI:10.1056/NEJMc0808557
PMID:19213692
Abstract
摘要

相似文献

1
A family with complete resistance to thyrotropin-releasing hormone.
N Engl J Med. 2009 Feb 12;360(7):731-4. doi: 10.1056/NEJMc0808557.
2
A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene.中枢性甲状腺功能减退症的一种新机制：促甲状腺激素释放激素受体基因的失活突变
J Clin Endocrinol Metab. 1997 May;82(5):1561-5. doi: 10.1210/jcem.82.5.3918.
3
[Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene].
Nihon Rinsho. 2002 Feb;60(2):277-83.
4
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.下丘脑-垂体-甲状腺轴激素抵抗综合征
Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):529-46. doi: 10.1016/j.beem.2006.11.001.
5
W546X mutation of the thyrotropin receptor causes subclinical hypothyroidism in various clinical settings.促甲状腺激素受体的W546X突变在各种临床情况下会导致亚临床甲状腺功能减退。
Clin Endocrinol (Oxf). 2007 Aug;67(2):317-9. doi: 10.1111/j.1365-2265.2007.02877.x. Epub 2007 May 24.
6
Prolactin and thyrotropin in thyroid diseases: lack of evidence for a physiological role of thyrotropin-releasing hormone in the regulation of prolactin secretion.甲状腺疾病中的催乳素和促甲状腺激素：促甲状腺激素释放激素在催乳素分泌调节中缺乏生理作用的证据。
Horm Metab Res. 1974 May;6(3):190-5. doi: 10.1055/s-0028-1093871.
7
Thyrotropin-releasing hormone in cardiovascular pathophysiology.促甲状腺激素释放激素在心血管病理生理学中的作用
Regul Pept. 2005 Jun 30;128(3):239-46. doi: 10.1016/j.regpep.2005.01.002.
8
Ectopic expression of thyrotropin releasing hormone (TRH) receptors in liver modulates organ function to regulate blood glucose by TRH.肝脏中促甲状腺激素释放激素（TRH）受体的异位表达通过TRH调节器官功能以调控血糖。
Nat Genet. 1996 Mar;12(3):274-9. doi: 10.1038/ng0396-274.
9
Familial isolated thyrotropin deficiency with cretinism.伴有呆小症的家族性孤立性促甲状腺激素缺乏症。
N Engl J Med. 1971 Nov 4;285(19):1043-8. doi: 10.1056/NEJM197111042851902.
10
Analysis of the role of transmembrane helix three of the thyrotropin-releasing hormone (TRH) receptor in directly binding TRH.促甲状腺激素释放激素（TRH）受体跨膜螺旋3在直接结合TRH中的作用分析
Trans Assoc Am Physicians. 1993;106:162-7.

引用本文的文献

1
The molecular basis of hypoprolactinaemia.低催乳素血症的分子基础。
Rev Endocr Metab Disord. 2024 Dec;25(6):967-983. doi: 10.1007/s11154-024-09906-9. Epub 2024 Oct 17.
2
Diagnosis of hypoprolactinemia.低催乳素血症的诊断。
Rev Endocr Metab Disord. 2024 Dec;25(6):985-993. doi: 10.1007/s11154-024-09896-8. Epub 2024 Jul 22.
3
Normal intellectual ability and hyperprolactinemia as unique clinical manifestations of congenital hypothyroidism: A case report and review of hypotheses.正常智力与高催乳素血症作为先天性甲状腺功能减退症的独特临床表现：一例病例报告及假说综述
Narra J. 2023 Dec;3(3):e205. doi: 10.52225/narra.v3i3.205. Epub 2023 Oct 3.
4
The hypothalamic-pituitary-thyroid axis is intact in male insulin receptor substrate 4 knockout mice.雄性胰岛素受体底物4基因敲除小鼠的下丘脑-垂体-甲状腺轴完整无损。
Eur Thyroid J. 2024 Jan 1;13(1). doi: 10.1530/ETJ-23-0054.
5
Hypothyroidism: The difficulty in attributing symptoms to their underlying cause.甲状腺功能减退症：将症状归因于潜在病因的困难。
Front Endocrinol (Lausanne). 2023 Feb 6;14:1130661. doi: 10.3389/fendo.2023.1130661. eCollection 2023.
6
Biochemical and physiological insights into TRH receptor-mediated signaling.促甲状腺激素释放激素受体介导信号传导的生化与生理学见解。
Front Cell Dev Biol. 2022 Sep 6;10:981452. doi: 10.3389/fcell.2022.981452. eCollection 2022.
7
Genetics of congenital hypothyroidism: Modern concepts.先天性甲状腺功能减退症的遗传学：现代概念
Pediatr Investig. 2022 May 14;6(2):123-134. doi: 10.1002/ped4.12324. eCollection 2022 Jun.
8
Diagnosis and Management of Central Congenital Hypothyroidism.中枢性先天性甲状腺功能减退症的诊断和治疗。
Front Endocrinol (Lausanne). 2021 Sep 9;12:686317. doi: 10.3389/fendo.2021.686317. eCollection 2021.
9
Snow White and the Seven Dwarfs: a fairytale for endocrinologists.《白雪公主和七个小矮人》：内分泌学家的童话。
Endocr Connect. 2021 May 19;10(5):R189-R199. doi: 10.1530/EC-20-0615.
10
New genetics in congenital hypothyroidism.先天性甲状腺功能减退症的新遗传学。
Endocrine. 2021 Mar;71(3):696-705. doi: 10.1007/s12020-021-02646-9. Epub 2021 Mar 1.