Literature DB >> 15235038

Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

E Renkonen1, H Lohi, H J Järvinen, J-P Mecklin, P Peltomäki.   

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Year:  2004        PMID： 15235038      PMCID： PMC1735832          DOI： 10.1136/jmg.2003.017269

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  8 in total

1.  Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

Authors:  S McVety; L Li; P H Gordon; G Chong; W D Foulkes
Journal:  J Med Genet       Date:  2005-05-27       Impact factor: 6.318

Review 2.  Alternative splicing of DNA damage response genes and gastrointestinal cancers.

Authors:  Bahityar Rahmutulla; Kazuyuki Matsushita; Fumio Nomura
Journal:  World J Gastroenterol       Date:  2014-12-14       Impact factor: 5.742

3.  Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Authors:  Monika Morak; Kerstin Schaefer; Verena Steinke-Lange; Udo Koehler; Susanne Keinath; Trisari Massdorf; Brigitte Mauracher; Nils Rahner; Jessica Bailey; Christiane Kling; Tanja Haeusser; Andreas Laner; Elke Holinski-Feder
Journal:  Eur J Hum Genet       Date:  2019-07-22       Impact factor: 4.246

Review 4.  Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes.

Authors:  A Sveen; S Kilpinen; A Ruusulehto; R A Lothe; R I Skotheim
Journal:  Oncogene       Date:  2015-08-24       Impact factor: 9.867

5.  Combined analyses of RNA-sequence and Hi-C along with GWAS loci-A novel approach to dissect keloid disorder genetic mechanism.

Authors:  Jia Huang; Xiaobo Zhou; Wenbo Wang; Guangdong Zhou; WenJie Zhang; Zhen Gao; Xiaoli Wu; Wei Liu
Journal:  PLoS Genet       Date:  2022-06-16       Impact factor: 6.020

Review 6.  RNA splicing: a new player in the DNA damage response.

Authors:  Silvia C Lenzken; Alessia Loffreda; Silvia M L Barabino
Journal:  Int J Cell Biol       Date:  2013-09-12

7.  Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Authors:  C George Priya Doss; Rao Sethumadhavan
Journal:  J Biomed Sci       Date:  2009-04-24       Impact factor: 8.410

8.  Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.

Authors:  Kunitoshi Shigeyasu; Kohji Tanakaya; Takeshi Nagasaka; Hideki Aoki; Toshiyoshi Fujiwara; Kokichi Sugano; Hideki Ishikawa; Teruhiko Yoshida; Yoshihiro Moriya; Yoichi Furukawa; Ajay Goel; Hitoshi Takeuchi
Journal:  Surg Today       Date:  2013-07-31       Impact factor: 2.549
  8 in total

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