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Literature DB >> 7959702

A novel polymorphism in the coding sequence of the human RET proto-oncogene.

P Edery¹, T Attié, L M Mulligan, A Pelet, C Eng, B A Ponder, A Munnich, S Lyonnet.

Abstract

A novel polymorphism in the coding sequence of the human RET proto-oncogene is described. The RET proto-oncogene maps to chromosome 10q11.2, and is involved in multiple endocrine neoplasia (MEN 2A, MEN 2B), familial medullary thyroid carcinoma and Hirschsprung's disease.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1994 PMID： 7959702 DOI： 10.1007/BF00211034

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

7 in total

1. Structural analysis of the human ret proto-oncogene using exon trapping.

Authors: J B Kwok; E Gardner; J P Warner; B A Ponder; L M Mulligan
Journal: Oncogene Date: 1993-09 Impact factor: 9.867

2. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

Authors: L M Mulligan; J B Kwok; C S Healey; M J Elsdon; C Eng; E Gardner; D R Love; S E Mole; J K Moore; L Papi
Journal: Nature Date: 1993-06-03 Impact factor: 49.962

3. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.

Authors: C Eng; D P Smith; L M Mulligan; M A Nagai; C S Healey; M A Ponder; E Gardner; G F Scheumann; C E Jackson; A Tunnacliffe
Journal: Hum Mol Genet Date: 1994-02 Impact factor: 6.150

4. Human ret proto-oncogene mapped to chromosome 10q11.2.

Authors: Y Ishizaka; F Itoh; T Tahira; I Ikeda; T Sugimura; J Tucker; A Fertitta; A V Carrano; M Nagao
Journal: Oncogene Date: 1989-12 Impact factor: 9.867

5. Mutations of the RET proto-oncogene in Hirschsprung's disease.

Authors: P Edery; S Lyonnet; L M Mulligan; A Pelet; E Dow; L Abel; S Holder; C Nihoul-Fékété; B A Ponder; A Munnich
Journal: Nature Date: 1994-01-27 Impact factor: 49.962

6. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.

Authors: G Romeo; P Ronchetto; Y Luo; V Barone; M Seri; I Ceccherini; B Pasini; R Bocciardi; M Lerone; H Kääriäinen
Journal: Nature Date: 1994-01-27 Impact factor: 49.962

7. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

Authors: R M Hofstra; R M Landsvater; I Ceccherini; R P Stulp; T Stelwagen; Y Luo; B Pasini; J W Höppener; H K van Amstel; G Romeo
Journal: Nature Date: 1994-01-27 Impact factor: 49.962

7 in total

6 in total

1. Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease.

Authors: G Fitze; M Schreiber; E Kuhlisch; H K Schackert; D Roesner
Journal: Am J Hum Genet Date: 1999-11 Impact factor: 11.025

2. The finding of a somaticdeletion in RET exon 15 clarified the sporadic nature of amedullary thyroid carcinoma suspected to be familial.

Authors: J Oriola; I Halperin; F Rivera-Fillat; H Donis-Keller
Journal: J Endocrinol Invest Date: 2002-01 Impact factor: 4.256

3. A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.

Authors: Salud Borrego; Fred A Wright; Raquel M Fernández; Nita Williams; Manuel López-Alonso; Ramana Davuluri; Guillermo Antiñolo; Charis Eng
Journal: Am J Hum Genet Date: 2002-12-09 Impact factor: 11.025