Literature DB >> 7641184

Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC.

W S Samowitz1, A Thliveris, L N Spirio, R White.   

Abstract

Reverse transcription-PCR combined with either (a) restriction enzyme digestion and repeat PCR or (b) ligase chain reaction has identified two new alternatively spliced transcripts of the adenomatous polyposis coli (APC) gene. In one of these transcripts exons 1-4 and the first 16 bases of exon 5 are deleted; in the other exons 2-4 and the first 16 bases of 5 are deleted. Both transcripts use an intraexonic splice acceptor in exon 5. These transcripts delete exons mutated in attenuated APC (3 and 4) and could account for the reduction in severity of this variant.

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Mesh:

Year:  1995        PMID: 7641184

Source DB:  PubMed          Journal:  Cancer Res        ISSN: 0008-5472            Impact factor:   12.701


  21 in total

1.  Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes.

Authors:  R Houlston; M Crabtree; R Phillips; M Crabtree; I Tomlinson
Journal:  Gut       Date:  2001-01       Impact factor: 23.059

2.  A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification.

Authors:  Constanze Pagenstecher; Dorothea Gadzicki; Dietlinde Stienen; Siegfried Uhlhaas; Elisabeth Mangold; Nils Rahner; Mine Arslan-Kirchner; Peter Propping; Waltraut Friedl; Stefan Aretz
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

3.  A splice-site mutation in exon 4 of the APC gene in a family with attenuated familial adenomatous polyposis.

Authors:  Seamus J Murphy; Brian McIlhatton; W Peter Logan; Kenneth G Porter; Patrick J Morrison
Journal:  Dig Dis Sci       Date:  2007-04-05       Impact factor: 3.199

4.  Genotype-phenotype correlations in attenuated adenomatous polyposis coli.

Authors:  C Soravia; T Berk; L Madlensky; A Mitri; H Cheng; S Gallinger; Z Cohen; B Bapat
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

5.  Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes.

Authors:  M D Crabtree; I P M Tomlinson; S V Hodgson; K Neale; R K S Phillips; R S Houlston
Journal:  Gut       Date:  2002-09       Impact factor: 23.059

Review 6.  Alternative splicing and disease.

Authors:  Jamal Tazi; Nadia Bakkour; Stefan Stamm
Journal:  Biochim Biophys Acta       Date:  2008-10-17

7.  Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.

Authors:  Hong Tao; Kazuya Shinmura; Hidetaka Yamada; Masato Maekawa; Satoshi Osawa; Yasuhiro Takayanagi; Kazuya Okamoto; Tomohiro Terai; Hiroki Mori; Toshio Nakamura; Haruhiko Sugimura
Journal:  BMC Res Notes       Date:  2010-11-16

8.  Loss of heterozygosity and microsatellite instability in de novo versus ex-adenoma carcinomas of the colorectum.

Authors:  J D Mueller; N Haegle; G Keller; E Mueller; G Saretzky; B Bethke; M Stolte; H Höfler
Journal:  Am J Pathol       Date:  1998-12       Impact factor: 4.307

Review 9.  Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Authors:  Christopher D Heinen
Journal:  Mutat Res       Date:  2009-09-17       Impact factor: 2.433

10.  Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation.

Authors:  S Nasioulas; I T Jones; D J St John; R J Scott; S M Forrest; R J McKinlay Gardner
Journal:  Fam Cancer       Date:  2001       Impact factor: 2.375

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