• 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

Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom.

作者信息

Beck-Peccoz P, Chatterjee V K, Chin W W, DeGroot L J, Jameson J L, Nakamura H, Refetoff S, Usala S J, Weintraub B D

出版信息

J Clin Endocrinol Metab. 1994 Apr;78(4):990-3. doi: 10.1210/jcem.78.4.8157732.

DOI:10.1210/jcem.78.4.8157732
PMID:8157732
Abstract
摘要

相似文献

1
Nomenclature of thyroid hormone receptor beta-gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, United Kingdom.甲状腺激素抵抗中甲状腺激素受体β基因突变的命名:1993年7月10 - 11日于英国剑桥举行的首届甲状腺激素抵抗研讨会的共识声明
J Clin Endocrinol Metab. 1994 Apr;78(4):990-3. doi: 10.1210/jcem.78.4.8157732.
2
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the first workshop on thyroid hormone resistance, July 10-11th 1993, Cambridge, U.K.
Thyroid. 1994 Spring;4(1):135-7. doi: 10.1089/thy.1994.4.135.
3
Nomenclature of thyroid hormone receptor-beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11th July 1993, Cambridge, UK.
Eur J Endocrinol. 1994 Apr;130(4):426-8. doi: 10.1530/eje.0.1300426.
4
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK.甲状腺激素抵抗中甲状腺激素受体β基因突变的命名法:1993年7月10日至11日于英国剑桥举行的第一届甲状腺激素抵抗研讨会上的共识声明
Clin Endocrinol (Oxf). 1994 May;40(5):697-700. doi: 10.1111/j.1365-2265.1994.tb03024.x.
5
Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.甲状腺激素抵抗中甲状腺激素受体β基因突变的命名法。甲状腺激素抵抗首次研讨会,1993年7月10 - 11日,英国剑桥
J Endocrinol Invest. 1994 Apr;17(4):283-7. doi: 10.1007/BF03348977.
6
Three novel mutations of thyroid hormone receptor beta gene in unrelated patients with resistance to thyroid hormone: two mutations of the same codon (H435L and H435Q) produce separate subtypes of resistance.在无关的甲状腺激素抵抗患者中发现甲状腺激素受体β基因的三种新突变:同一密码子的两种突变(H435L和H435Q)产生不同亚型的抵抗。
J Clin Endocrinol Metab. 1995 Dec;80(12):3613-6. doi: 10.1210/jcem.80.12.8530608.
7
A homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.一名全身性甲状腺激素抵抗患者的c-erbAβ甲状腺激素受体基因纯合缺失:突变受体的分离与鉴定
Mol Endocrinol. 1991 Mar;5(3):327-35. doi: 10.1210/mend-5-3-327.
8
Three new mutations of thyroid hormone receptor-beta associated with resistance to thyroid hormone.三种与甲状腺激素抵抗相关的甲状腺激素受体-β新突变。
J Clin Endocrinol Metab. 1994 Jul;79(1):323-6. doi: 10.1210/jcem.79.1.7913092.
9
Pituitary resistance to thyroid hormone associated with a base mutation in the hormone-binding domain of the human 3,5,3'-triiodothyronine receptor-beta.垂体对甲状腺激素抵抗与人类3,5,3'-三碘甲状腺原氨酸受体β激素结合域的碱基突变有关。
J Clin Endocrinol Metab. 1993 May;76(5):1254-8. doi: 10.1210/jcem.76.5.8496318.
10
A mouse model of resistance to thyroid hormone produced by somatic gene transfer of a mutant thyroid hormone receptor.通过突变甲状腺激素受体的体细胞基因转移产生的甲状腺激素抵抗小鼠模型。
Mol Endocrinol. 1996 Jan;10(1):100-6. doi: 10.1210/mend.10.1.8838149.

引用本文的文献

1
Thyroid Hormone Signaling Pathways: Time for a More Precise Nomenclature.甲状腺激素信号通路:是时候采用更精确的命名法了。
Endocrinology. 2017 Jul 1;158(7):2052-2057. doi: 10.1210/en.2017-00250.
2
Characteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.甲状腺激素抵抗综合征晚期表现患者的特征:单中心经验
Endocrine. 2015 Dec;50(3):689-97. doi: 10.1007/s12020-015-0622-x. Epub 2015 Jun 4.
3
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.
甲状腺激素作用、细胞转运及代谢遗传性缺陷的分类及拟用命名法。
Eur Thyroid J. 2014 Mar;3(1):7-9. doi: 10.1159/000358180. Epub 2014 Mar 4.
4
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.甲状腺激素作用、细胞转运及代谢遗传性缺陷的分类与拟用命名法。
J Clin Endocrinol Metab. 2014 Mar;99(3):768-70. doi: 10.1210/jc.2013-3393.
5
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism.甲状腺激素作用、细胞转运及代谢遗传性缺陷的分类与拟用命名法。
Thyroid. 2014 Mar;24(3):407-9. doi: 10.1089/thy.2013.3393.nomen. Epub 2014 Mar 4.
6
The syndromes of reduced sensitivity to thyroid hormone.甲状腺激素抵抗综合征
Biochim Biophys Acta. 2013 Jul;1830(7):3987-4003. doi: 10.1016/j.bbagen.2012.08.005. Epub 2012 Aug 16.
7
A Case of Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Mutation (I54V).一例慢性甲状腺炎伴甲状腺激素抵抗病例:一种新型突变(I54V)的发现
Case Rep Endocrinol. 2011;2011:584930. doi: 10.1155/2011/584930. Epub 2011 Oct 9.
8
Homozygous thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: three new cases and review of the literature.甲状腺激素受体 β 基因突变导致抵抗性甲状腺激素综合征:三例新病例并文献复习。
J Clin Endocrinol Metab. 2012 Apr;97(4):1328-36. doi: 10.1210/jc.2011-2642. Epub 2012 Feb 8.
9
Resistance to thyroid hormone with missense mutation (V349M) in the thyroid hormone receptor beta gene.甲状腺激素受体β基因错义突变(V349M)导致的甲状腺激素抵抗
Korean J Intern Med. 2008 Mar;23(1):45-8. doi: 10.3904/kjim.2008.23.1.45.
10
Cloning and characterization of two novel thyroid hormone receptor beta isoforms.两种新型甲状腺激素受体β亚型的克隆与特性分析
Mol Cell Biol. 2000 Nov;20(22):8329-42. doi: 10.1128/MCB.20.22.8329-8342.2000.