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 - Suppr

Suppr

超能文献

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.

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

机构信息

Dept. of Medicine, University of Cambridge, United Kingdom.

出版信息

J Endocrinol Invest. 1994 Apr;17(4):283-7. doi: 10.1007/BF03348977.

DOI:10.1007/BF03348977

PMID:7930382

Abstract

摘要

相似文献

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.

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.

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.

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.

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.

Resistance to thyroid hormone with and without receptor gene mutations.伴有和不伴有受体基因突变的甲状腺激素抵抗

Ann Endocrinol (Paris). 2003 Feb;64(1):23-5.

A new mutation in the thyroid hormone receptor (TR) beta gene (V458A) in a family with resistance to thyroid hormone (RTH).

Thyroid. 1996 Aug;6(4):311-2. doi: 10.1089/thy.1996.6.311.

Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone.

Thyroid. 1994 Winter;4(4):485-92. doi: 10.1089/thy.1994.4.485.

A novel point mutation of thyroid hormone receptor beta gene in a family with resistance to thyroid hormone.一个甲状腺激素抵抗家族中甲状腺激素受体β基因的新型点突变。

Thyroid. 1997 Oct;7(5):771-3. doi: 10.1089/thy.1997.7.771.

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone.一名甲状腺激素抵抗患者的甲状腺激素受体β出现新型突变（1653insC）。

Hum Mutat. 2000 Oct;16(4):375. doi: 10.1002/1098-1004(200010)16:4<375::AID-HUMU19>3.0.CO;2-Q.

引用本文的文献

Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.甲状腺激素低敏性：从基因型到表型再回归

Front Endocrinol (Lausanne). 2020 Jan 24;10:912. doi: 10.3389/fendo.2019.00912. eCollection 2019.

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.

Modulation of the transcriptional activity of thyroid hormone receptors by the tumor suppressor p53.肿瘤抑制因子p53对甲状腺激素受体转录活性的调节作用。

Proc Natl Acad Sci U S A. 1996 Apr 30;93(9):4273-7. doi: 10.1073/pnas.93.9.4273.

本文引用的文献

Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid hormone receptor beta gene. Analysis of 15 families.在对15个家庭的分析中发现，甲状腺激素受体β基因富含胞嘧啶-鸟嘌呤的区域出现了与甲状腺激素普遍抵抗相关的不相关家庭中的相同突变。

J Clin Invest. 1993 Jun;91(6):2408-15. doi: 10.1172/JCI116474.

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.

Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.甲状腺激素全身性抵抗家系中突变型和正常β-T3受体等位基因的差异表达

J Clin Invest. 1993 May;91(5):2296-300. doi: 10.1172/JCI116458.

Characterization of a novel mutant human thyroid hormone receptor beta in a family with hereditary thyroid hormone resistance.一个遗传性甲状腺激素抵抗家族中新型突变型人类甲状腺激素受体β的特征分析。

Clin Endocrinol (Oxf). 1993 Jan;38(1):29-38. doi: 10.1111/j.1365-2265.1993.tb00969.x.

The relative expression of mutant and normal thyroid hormone receptor genes in patients with generalized resistance to thyroid hormone determined by estimation of their specific messenger ribonucleic acid products.通过对其特定信使核糖核酸产物的评估来确定甲状腺激素全身性抵抗患者中突变型和正常甲状腺激素受体基因的相对表达。

J Clin Endocrinol Metab. 1993 Jan;76(1):64-9. doi: 10.1210/jcem.76.1.8421105.

Multiple genetic factors in the heterogeneity of thyroid hormone resistance.甲状腺激素抵抗异质性中的多种遗传因素。

J Clin Endocrinol Metab. 1993 Jan;76(1):257-9. doi: 10.1210/jcem.76.1.8421095.

Interaction of human beta 1 thyroid hormone receptor and its mutants with DNA and retinoid X receptor beta. T3 response element-dependent dominant negative potency.人β1甲状腺激素受体及其突变体与DNA和视黄酸X受体β的相互作用。T3反应元件依赖性显性负性效力。

J Clin Invest. 1993 Oct;92(4):1986-93. doi: 10.1172/JCI116793.

Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone.在一名明显存在选择性垂体对甲状腺激素抵抗的患者中，鉴定出编码β-三碘甲状腺原氨酸受体的基因中的一种新突变。

Clin Endocrinol (Oxf). 1993 Mar;38(3):227-34. doi: 10.1111/j.1365-2265.1993.tb00999.x.

An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype.C-erbAβ基因第311密码子处的精氨酸突变为组氨酸，导致一种突变的甲状腺激素受体，该受体不介导显性负性表型。

J Clin Invest. 1993 Feb;91(2):538-46. doi: 10.1172/JCI116233.

The syndromes of resistance to thyroid hormone.甲状腺激素抵抗综合征

Endocr Rev. 1993 Jun;14(3):348-99. doi: 10.1210/edrv-14-3-348.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验