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

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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

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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。

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