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Multiple mRNA isoforms of the human RET proto-oncogene generated by alternate splicing.

作者信息

Lorenzo M J, Eng C, Mulligan L M, Stonehouse T J, Healey C S, Ponder B A, Smith D P

机构信息

Department of Pathology, University of Cambridge, UK.

出版信息

Oncogene. 1995 Apr 6;10(7):1377-83.

PMID:7731689
Abstract

The RET proto-oncogene encodes a receptor tyrosine kinase. We and others have recently shown that distinct germline mutations of the RET proto-oncogene account for the majority of cases of the dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes, and can cause a dominantly inherited form of Hirschsprung disease, a disorder of development of the autonomic innervation of the gut. RET is also oncogenically activated in some sporadic thyroid and adrenal tumours. Here we report the characterisation of multiple mRNA isoforms of RET generated by alternate splicing. Two isoforms are predicted to encode membrane-spanning receptors with a truncated extracellular ligand-binding domain. A third isoform is predicted to encode a soluble, secreted form of the receptor. These mRNA isoforms are expressed in both normal and tumour tissues.

摘要

相似文献

1
Multiple mRNA isoforms of the human RET proto-oncogene generated by alternate splicing.
Oncogene. 1995 Apr 6;10(7):1377-83.
2
Rudolf-Virchow-Preis 1995. The role of RET proto-oncogene mutation analysis in the diagnosis of multiple endocrine neoplasia type 2 (MEN 2) gene carriers and in the discrimination of sporadic and familial medullary thyroid carcinomas and pheochromocytomas.1995年鲁道夫·魏尔啸奖。RET原癌基因突变分析在2型多发性内分泌腺瘤病(MEN 2)基因携带者诊断以及散发性和家族性甲状腺髓样癌与嗜铬细胞瘤鉴别中的作用
Verh Dtsch Ges Pathol. 1995;79:L-LV.
3
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.2B型多发性内分泌腺瘤及相关散发性肿瘤中RET原癌基因酪氨酸激酶结构域内的点突变。
Hum Mol Genet. 1994 Feb;3(2):237-41. doi: 10.1093/hmg/3.2.237.
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A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.一种与2B型多发性内分泌腺瘤病和散发性甲状腺髓样癌相关的RET原癌基因突变。
Nature. 1994 Jan 27;367(6461):375-6. doi: 10.1038/367375a0.
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The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.散发性嗜铬细胞瘤中的RET原癌基因:频繁出现的MEN 2样突变及新的分子缺陷
J Clin Endocrinol Metab. 1995 Jul;80(7):2063-8. doi: 10.1210/jcem.80.7.7608256.
6
High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.西班牙MEN 2A家系中RET原癌基因C634Y突变的高发生率。
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Germ line mutations of the ret proto-oncogene in Japanese patients with multiple endocrine neoplasia type 2A and type 2B.日本2A型和2B型多发性内分泌腺瘤患者中ret原癌基因的种系突变。
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RET activation by germline MEN2A and MEN2B mutations.种系MEN2A和MEN2B突变导致的RET激活。
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RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.遗传性和散发性甲状腺髓样癌中的RET原癌基因突变
Hum Mol Genet. 1994 Oct;3(10):1895-7. doi: 10.1093/hmg/3.10.1895.
10
The physical map of the human RET proto-oncogene.人类RET原癌基因的物理图谱。
Oncogene. 1995 Nov 2;11(9):1737-43.

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