甲状腺功能结节中的促甲状腺激素受体细胞外区域突变：该区域在受体激活中功能作用的进一步证据 - Suppr

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超能文献

TSH receptor extracellular region mutations in thyroid functioning nodules: further evidence for the functional role of this region in the receptor activation.

作者信息

Russo D, Costante G, Bruno R, Sponziello M, Tamburrano G, Dima M, Sacco R, Giacomelli L, Durante C, Filetti S

出版信息

Endocrine. 2011 Dec;40(3):492-4. doi: 10.1007/s12020-011-9525-7. Epub 2011 Aug 24.

DOI:10.1007/s12020-011-9525-7

PMID:21863340

Abstract

摘要

相似文献

TSH receptor extracellular region mutations in thyroid functioning nodules: further evidence for the functional role of this region in the receptor activation.甲状腺功能结节中的促甲状腺激素受体细胞外区域突变：该区域在受体激活中功能作用的进一步证据

Endocrine. 2011 Dec;40(3):492-4. doi: 10.1007/s12020-011-9525-7. Epub 2011 Aug 24.

Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma.毒性多结节性甲状腺肿中的高功能甲状腺结节与孤立性毒性腺瘤一样，都存在激活促甲状腺激素受体突变。

J Clin Endocrinol Metab. 1998 Feb;83(2):492-8. doi: 10.1210/jcem.83.2.4559.

[Point mutation of thyrotropin receptors as the main cause of autonomously functioning thyroid nodules: experiences in the framework of our Styrian patients].[促甲状腺激素受体点突变是自主性甲状腺结节的主要病因：施泰尔马克州患者框架下的经验]

Acta Med Austriaca. 2000;27(2):49-50. doi: 10.1046/j.1563-2571.2000.270205.x.

Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of-function mutations in the thyrotropin signaling pathway.在既往碘缺乏地区，自主功能性甲状腺结节通常在促甲状腺激素信号通路中存在功能获得性突变。

Eur J Endocrinol. 2003 Oct;149(4):287-92. doi: 10.1530/eje.0.1490287.

The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules.甲状腺结节细针穿刺活检样本中促甲状腺激素受体基因体细胞突变的检测

Endocr Regul. 1999 Sep;33(3):95-101.

[TSH receptor double mutation in functional autonomic thyroid nodule].[功能性自主性甲状腺结节中的促甲状腺激素受体双突变]

Acta Med Austriaca. 1995;22(4):75-7.

Two rare TSH receptor amino acid substitutions in toxic thyroid adenomas.两种罕见的毒性甲状腺腺瘤中 TSH 受体氨基酸取代。

Endocr J. 2012;59(1):13-9. doi: 10.1507/endocrj.ej11-0202. Epub 2011 Oct 15.

Pathogenesis of toxic thyroid adenomas and nodules: relevance of activating mutations in the TSH-receptor and Gs-alpha gene, the possible role of iodine deficiency and secondary and TSH-independent molecular mechanisms.毒性甲状腺腺瘤和结节的发病机制：促甲状腺激素受体和Gs-α基因激活突变的相关性、碘缺乏的可能作用以及继发性和促甲状腺激素非依赖性分子机制。

Exp Clin Endocrinol Diabetes. 1998;106 Suppl 4:S6-9. doi: 10.1055/s-0029-1212048.

[Point mutations of the thyrotropin receptor gene in autonomously functioning thyroid gland nodules: correlation with clinical findings and morphology].[自主功能性甲状腺结节中促甲状腺激素受体基因的点突变：与临床发现及形态学的相关性]

Verh Dtsch Ges Pathol. 1997;81:145-50.

Toxic thyroid adenoma and toxic multinodular goiter.毒性甲状腺腺瘤和毒性多结节性甲状腺肿。

J Mol Med (Berl). 2001;78(12):657-60. doi: 10.1007/s001090100187.

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Novel insights on thyroid-stimulating hormone receptor signal transduction.促甲状腺激素受体信号转导的新见解。

Endocr Rev. 2013 Oct;34(5):691-724. doi: 10.1210/er.2012-1072. Epub 2013 May 3.

Increased expression of pro-angiogenic factors and vascularization in thyroid hyperfunctioning adenomas with and without TSH receptor activating mutations.促血管生成因子表达增加及血管生成在甲状腺功能亢进腺瘤中的作用，有无 TSH 受体激活突变。

Endocrine. 2013 Feb;43(1):147-53. doi: 10.1007/s12020-012-9747-3. Epub 2012 Jul 20.

本文引用的文献

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.非典型 TSH 抵抗：甲状腺碘摄取明显增高的 TSHR 突变携带者。

J Clin Endocrinol Metab. 2011 Aug;96(8):E1340-5. doi: 10.1210/jc.2011-0070. Epub 2011 Jun 15.

Deletion of thyrotropin receptor residue Asp403 in a hyperfunctioning thyroid nodule provides insight into the role of the ectodomain in ligand-induced receptor activation.甲状腺刺激素受体残基天冬氨酸 403 的缺失导致甲状腺功能亢进结节，提示细胞外结构域在配体诱导的受体激活中的作用。

J Endocrinol Invest. 2012 Jan;35(1):49-53. doi: 10.3275/7738. Epub 2011 May 19.

Evidence that the thyroid-stimulating hormone (TSH) receptor transmembrane domain influences kinetics of TSH binding to the receptor ectodomain.证据表明，促甲状腺激素（TSH）受体跨膜域影响 TSH 与受体胞外域结合的动力学。

J Biol Chem. 2011 Feb 25;286(8):6219-24. doi: 10.1074/jbc.M110.211003. Epub 2010 Dec 28.

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.遗传性甲状腺功能亢进症：由 TSHR 突变激活引起的甲状腺功能亢进症。

Eur J Endocrinol. 2011 Jan;164(1):1-9. doi: 10.1530/EJE-10-0775. Epub 2010 Oct 6.

Thyrotropin (TSH) receptor residue E251 in the extracellular leucine-rich repeat domain is critical for linking TSH binding to receptor activation.甲状腺刺激素（TSH）受体胞外富含亮氨酸重复域中的 E251 残基对于连接 TSH 结合与受体激活至关重要。

Endocrinology. 2010 Apr;151(4):1940-7. doi: 10.1210/en.2009-1430. Epub 2010 Feb 24.

Thyrotropin and homologous glycoprotein hormone receptors: structural and functional aspects of extracellular signaling mechanisms.促甲状腺激素及同源糖蛋白激素受体：细胞外信号传导机制的结构与功能方面

Endocr Rev. 2009 Apr;30(2):133-51. doi: 10.1210/er.2008-0044. Epub 2009 Jan 27.

Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.对甲状腺功能减退症或孤立性促甲状腺激素血症患者中鉴定出的新型促甲状腺激素受体（TSHr）突变的功能研究。

Clin Endocrinol (Oxf). 2009 Feb;70(2):335-8. doi: 10.1111/j.1365-2265.2008.03333.x. Epub 2008 Aug 22.

Contacts between extracellular loop two and transmembrane helix six determine basal activity of the thyroid-stimulating hormone receptor.细胞外环二与跨膜螺旋六之间的相互作用决定促甲状腺激素受体的基础活性。

J Biol Chem. 2007 Jan 5;282(1):518-25. doi: 10.1074/jbc.M606176200. Epub 2006 Nov 1.

A Phe 486 thyrotropin receptor mutation in an autonomously functioning follicular carcinoma that was causing hyperthyroidism.

Thyroid. 2000 Nov;10(11):1009-12. doi: 10.1089/thy.2000.10.1009.

A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH.促甲状腺激素（TSH）受体基因中的一种新型突变，导致TSH结合丧失，但在一个对TSH抵抗的家族中引起受体组成性激活。

J Clin Endocrinol Metab. 2000 Nov;85(11):4238-42. doi: 10.1210/jcem.85.11.6985.

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