Literature DB >> 12150335

Novel sequence variants of the genes associated with the multiple endocrine neoplasia syndromes 1 and 2. analysis by an "in silico approach.".

P Igaz1, A Patócs, K Rácz.   

Abstract

MEN syndromes (1 and 2) are hereditary tumor syndromes inherited as autosomal dominant traits. The genes that harbor the mutations responsible for the development of these syndromes have been cloned in recent years. In the present study we applied an "in silico" approach to find previously undescribed sequence variants of the RET protooncogene and the MEN1 gene. Sequence comparisons were performed at the National Center for Biotechnology Information Database by the search tool blastn. We found several sequence alterations in both coding and non-coding sequences. The majority of polymorphisms described to date were found by our approach, in addition we observed novel sequence variants of both genes as well. These sequence variants may have both diagnostic and theoretical relevance. In silico strategies may represent new, and potentially effective ways for finding novel sequence variants.

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Year:  2002        PMID: 12150335     DOI: 10.1007/BF03345084

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN: 0391-4097            Impact factor:   4.256


  28 in total

1.  Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Authors:  S Borrego; M E Sáez; A Ruiz; O Gimm; M López-Alonso; G Antiñolo; C Eng
Journal:  J Med Genet       Date:  1999-10       Impact factor: 6.318

2.  High-throughput identification, database storage and analysis of SNPs in EST sequences.

Authors:  F J Useche; G Gao; M Harafey; A Rafalski
Journal:  Genome Inform       Date:  2001

3.  ret transforming gene encodes a fusion protein homologous to tyrosine kinases.

Authors:  M Takahashi; G M Cooper
Journal:  Mol Cell Biol       Date:  1987-04       Impact factor: 4.272

4.  Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.

Authors:  M Takahashi; Y Buma; T Iwamoto; Y Inaguma; H Ikeda; H Hiai
Journal:  Oncogene       Date:  1988-11       Impact factor: 9.867

5.  Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region.

Authors:  W Karges; K Jostarndt; S Maier; A Flemming; M Weitz; A Wissmann; B Feldmann; H Dralle; P Wagner; B O Boehm
Journal:  J Endocrinol       Date:  2000-07       Impact factor: 4.286

6.  Positional cloning of the gene for multiple endocrine neoplasia-type 1.

Authors:  S C Chandrasekharappa; S C Guru; P Manickam; S E Olufemi; F S Collins; M R Emmert-Buck; L V Debelenko; Z Zhuang; I A Lubensky; L A Liotta; J S Crabtree; Y Wang; B A Roe; J Weisemann; M S Boguski; S K Agarwal; M B Kester; Y S Kim; C Heppner; Q Dong; A M Spiegel; A L Burns; S J Marx
Journal:  Science       Date:  1997-04-18       Impact factor: 47.728

Review 7.  RET proto-oncogene mutations in thyroid carcinomas: clinical relevance.

Authors:  F Pacini; R Elisei; C Romei; A Pinchera
Journal:  J Endocrinol Invest       Date:  2000-05       Impact factor: 4.256

8.  A 5'-CG-3'-rich region in the promoter of the transcriptionally frequently silenced RET protooncogene lacks methylated cytidine residues.

Authors:  M Munnes; G Patrone; B Schmitz; G Romeo; W Doerfler
Journal:  Oncogene       Date:  1998-11-19       Impact factor: 9.867

9.  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

10.  Histamine genomics in silico: polymorphisms of the human genes involved in the synthesis, action and degradation of histamine.

Authors:  Peter Igaz; Carlos P Fitzimons; Csaba Szalai; András Falus
Journal:  Am J Pharmacogenomics       Date:  2002
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