De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.

Suppr

超能文献

作者信息

Pelet A, Attie T, Goulet O, Eng C, Ponder B A, Munnich A, Lyonnet S

出版信息

Lancet. 1994;344(8939-8940):1769-70. doi: 10.1016/s0140-6736(94)92908-4.

DOI:10.1016/s0140-6736(94)92908-4

PMID:7997019

Abstract

摘要

相似文献

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease.

Lancet. 1994;344(8939-8940):1769-70. doi: 10.1016/s0140-6736(94)92908-4.

Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease.

Eur J Hum Genet. 1996;4(6):356-8. doi: 10.1159/000472232.

Oncological implications of RET gene mutations in Hirschsprung's disease.先天性巨结肠症中RET基因突变的肿瘤学意义

Gut. 1998 Oct;43(4):542-7. doi: 10.1136/gut.43.4.542.

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung's disease.

Hum Mol Genet. 1994 Aug;3(8):1439-40. doi: 10.1093/hmg/3.8.1439.

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.影响先天性巨结肠症中RET原癌基因酪氨酸激酶结构域的点突变。

Nature. 1994 Jan 27;367(6461):377-8. doi: 10.1038/367377a0.

[Mutations of RET proto-oncogene in Hirschsprung disease].[先天性巨结肠症中RET原癌基因的突变]

C R Acad Sci III. 1994 Apr;317(4):358-62.

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.c135G/A基因型与RET原癌基因种系突变及先天性巨结肠症表型之间的关联。

Lancet. 2002 Apr 6;359(9313):1200-5. doi: 10.1016/S0140-6736(02)08218-1.

Hirschsprung's disease as a neurochristopathy.先天性巨结肠作为一种神经发育异常性疾病。

Pediatr Surg Int. 1997;12(1):2-10. doi: 10.1007/BF01194793.

Hirschsprung's disease: dissecting complexity in a pathogenetic network.先天性巨结肠病：剖析发病机制网络中的复杂性

Lancet. 2002 Apr 6;359(9313):1169-70. doi: 10.1016/S0140-6736(02)08249-1.

Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.带有半胱氨酸突变的Ret的生物学特性与2A型多发性内分泌肿瘤、家族性甲状腺髓样癌及先天性巨结肠症表型相关。

Cancer Res. 1997 Jul 15;57(14):2870-2.

引用本文的文献

The gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and mutation results in Hirschsprung's disease.该基因编码RET蛋白，RET蛋白可触发肠道神经发生的细胞内信号通路，而该基因突变会导致先天性巨结肠症。

AIMS Neurosci. 2022 Mar 16;9(1):128-149. doi: 10.3934/Neuroscience.2022008. eCollection 2022.

Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.先天性巨结肠症：临床畸形学、基因、微小RNA及未来展望

Pediatr Res. 2017 Jan;81(1-2):177-191. doi: 10.1038/pr.2016.202. Epub 2016 Sep 28.

Renal aplasia in humans is associated with RET mutations.人类肾发育不全与RET基因突变有关。

Am J Hum Genet. 2008 Feb;82(2):344-51. doi: 10.1016/j.ajhg.2007.10.008. Epub 2008 Jan 31.

The development of colon innervation in trisomy 16 mice and Hirschsprung's disease.16三体小鼠和先天性巨结肠症中结肠神经支配的发育

World J Gastroenterol. 2001 Feb;7(1):16-21. doi: 10.3748/wjg.v7.i1.16.

Oncological implications of RET gene mutations in Hirschsprung's disease.先天性巨结肠症中RET基因突变的肿瘤学意义

Gut. 1998 Oct;43(4):542-7. doi: 10.1136/gut.43.4.542.

Hirschsprung's disease as a neurochristopathy.先天性巨结肠作为一种神经发育异常性疾病。

Pediatr Surg Int. 1997;12(1):2-10. doi: 10.1007/BF01194793.

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