The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes. - Suppr | 超能文献

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.

作者信息

Fernández Raquel M, Antiñolo Guillermo, Eng Charis, Borrego Salud

出版信息

Hum Mutat. 2003 Nov;22(5):412-5. doi: 10.1002/humu.10273.

DOI:10.1002/humu.10273

Abstract

摘要

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。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes.

Hum Mutat. 2003 Nov;22(5):412-5. doi: 10.1002/humu.10273.

2

RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds.对患有先天性巨结肠症的婴儿进行RET原癌基因检测，发现了2个新的多发性内分泌肿瘤2A家系。

J Pediatr Surg. 2008 Jan;43(1):188-90. doi: 10.1016/j.jpedsurg.2007.09.043.

3

Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease.一个患有甲状腺髓样癌和先天性巨结肠症的家族中RET原癌基因的Cys611Ser突变

Eur J Hum Genet. 2003 May;11(5):364-8. doi: 10.1038/sj.ejhg.5200971.

4

Familial associations in medullary thyroid carcinoma with Hirschsprung disease: the role of the RET-C620 "Janus" genetic variation.家族性甲状腺髓样癌伴先天性巨结肠：RET-C620“两面神”基因突变的作用。

J Pediatr Surg. 2010 Feb;45(2):393-6. doi: 10.1016/j.jpedsurg.2009.10.080.

5

Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease.

J Clin Endocrinol Metab. 1998 Sep;83(9):3361-4. doi: 10.1210/jcem.83.9.5093.

6

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease.一个患有2A型多发性内分泌腺瘤病和先天性巨结肠症的家系中，RET原癌基因第10外显子的C618R突变

J Clin Endocrinol Metab. 1996 Jul;81(7):2731-3. doi: 10.1210/jcem.81.7.8675603.

7

Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A.

Br J Surg. 2004 Nov;91(11):1458-9. doi: 10.1002/bjs.4718.

8

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.RET原癌基因中的新型内含子多态性及其与先天性巨结肠病的关联。

Hum Mutat. 2003 Aug;22(2):177. doi: 10.1002/humu.9161.

9

Visual vignette. Multiple endocrine neoplasia type 2A (MEN2A) associated with cutaneous lichen amyloidosis.

Endocr Pract. 2003 Nov-Dec;9(6):570.

10

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.HSCR家族中c.135 G/A基因型与RET原癌基因种系突变之间的基因内相互作用。

Eur J Pediatr Surg. 2003 Jun;13(3):152-7. doi: 10.1055/s-2003-41270.

引用本文的文献

1

Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.家族性先天性巨结肠症的遗传特征全面分析。

World J Pediatr. 2023 Jul;19(7):644-651. doi: 10.1007/s12519-023-00686-x. Epub 2023 Mar 1.

2

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family.RET 单体型与 C620R 激活突变无关，与一个新的 MEN2 家族的先天性巨结肠病有关。

Clinics (Sao Paulo). 2012;67 Suppl 1(Suppl 1):57-61. doi: 10.6061/clinics/2012(sup01)11.

3

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.多发性内分泌肿瘤综合征、儿童、先天性巨结肠症与RET

Pediatr Surg Int. 2008 May;24(5):521-30. doi: 10.1007/s00383-008-2137-5. Epub 2008 Mar 26.