Literature DB >> 15173238

Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption.

P Lastella, N Resta, I Miccolis, A Quagliarella, G Guanti, A Stella.   

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Year:  2004        PMID： 15173238      PMCID： PMC1735798          DOI： 10.1136/jmg.2003.016659

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


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  10 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

2.  Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.

Authors:  Lise Lotte Christensen; Reetta Kariola; Mari K Korhonen; Friedrik P Wikman; Lone Sunde; Anne-Marie Gerdes; Henrik Okkels; Carsten A Brandt; Inge Bernstein; Thomas V O Hansen; Rikke Hagemann-Madsen; Claus L Andersen; Minna Nyström; Torben F Ørntoft
Journal:  Fam Cancer       Date:  2009-08-21       Impact factor: 2.375

3.  Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Authors:  Constanze Pagenstecher; Maria Wehner; Waltraut Friedl; Nils Rahner; Stefan Aretz; Nicolaus Friedrichs; Marlies Sengteller; Wolfram Henn; Reinhard Buettner; Peter Propping; Elisabeth Mangold
Journal:  Hum Genet       Date:  2005-12-08       Impact factor: 4.132

4.  Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.

Authors:  Masanobu Takahashi; Yoichi Furukawa; Hideki Shimodaira; Masato Sakayori; Takuya Moriya; Yoshihiro Moriya; Yusuke Nakamura; Chikashi Ishioka
Journal:  Fam Cancer       Date:  2012-12       Impact factor: 2.375

5.  Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant.

Authors:  I-Fang Ling; Rangaraj K Gopalraj; James F Simpson; Steven Estus
Journal:  J Neurochem       Date:  2010-09-28       Impact factor: 5.372

6.  Genomic features defining exonic variants that modulate splicing.

Authors:  Adam Woolfe; James C Mullikin; Laura Elnitski
Journal:  Genome Biol       Date:  2010-02-16       Impact factor: 13.583

7.  TNF receptor-associated periodic fever syndrome caused by sequence alterations in exonic splicing enhancers: comment on the article by Trübenbach et al.

Authors:  Davide Martorana; Tauro Maria Neri
Journal:  Rheumatol Int       Date:  2009-10-13       Impact factor: 2.631

8.  Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.

Authors:  Hiromu Naruse; Noriko Ikawa; Kiyoshi Yamaguchi; Yusuke Nakamura; Masami Arai; Chikashi Ishioka; Kokichi Sugano; Kazuo Tamura; Naohiro Tomita; Nagahide Matsubara; Teruhiko Yoshida; Yoshihiro Moriya; Yoichi Furukawa
Journal:  Fam Cancer       Date:  2009-08-15       Impact factor: 2.375

9.  Splice-disrupt genomic variants in prostate cancer.

Authors:  Ibrahim O Alanazi; Salman F Alamery; Esmaeil Ebrahimie; Manijeh Mohammadi-Dehcheshmeh
Journal:  Mol Biol Rep       Date:  2022-03-14       Impact factor: 2.742

10.  In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.

Authors:  Patrizia Lastella; Nicoletta Concetta Surdo; Nicoletta Resta; Ginevra Guanti; Alessandro Stella
Journal:  BMC Genomics       Date:  2006-09-22       Impact factor: 3.969
  10 in total

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