Literature DB >> 10986039

Genomic sequence, splicing, and gene annotation.

S M Mount1.   

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Year:  2000        PMID: 10986039      PMCID: PMC1287883          DOI: 10.1086/303098

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  36 in total

Review 1.  Powers and pitfalls in sequence analysis: the 70% hurdle.

Authors:  P Bork
Journal:  Genome Res       Date:  2000-04       Impact factor: 9.043

Review 2.  Gene-finding approaches for eukaryotes.

Authors:  G D Stormo
Journal:  Genome Res       Date:  2000-04       Impact factor: 9.043

3.  Genome annotation assessment in Drosophila melanogaster.

Authors:  M G Reese; G Hartzell; N L Harris; U Ohler; J F Abril; S E Lewis
Journal:  Genome Res       Date:  2000-04       Impact factor: 9.043

4.  A 5' splice site-proximal enhancer binds SF1 and activates exon bridging of a microexon.

Authors:  T Carlo; R Sierra; S M Berget
Journal:  Mol Cell Biol       Date:  2000-06       Impact factor: 4.272

5.  A catalogue of splice junction sequences.

Authors:  S M Mount
Journal:  Nucleic Acids Res       Date:  1982-01-22       Impact factor: 16.971

6.  Why genes in pieces?

Authors:  W Gilbert
Journal:  Nature       Date:  1978-02-09       Impact factor: 49.962

7.  A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.

Authors:  C L Lorson; E Hahnen; E J Androphy; B Wirth
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-25       Impact factor: 11.205

8.  The allele-specific suppressor sup-39 alters use of cryptic splice sites in Caenorhabditis elegans.

Authors:  A B Roller; D C Hoffman; A M Zahler
Journal:  Genetics       Date:  2000-03       Impact factor: 4.562

9.  Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients.

Authors:  R D Bagnall; N H Waseem; P M Green; B Colvin; C Lee; F Giannelli
Journal:  Br J Haematol       Date:  1999-12       Impact factor: 6.998

10.  The genome sequence of Drosophila melanogaster.

Authors:  M D Adams; S E Celniker; R A Holt; C A Evans; J D Gocayne; P G Amanatides; S E Scherer; P W Li; R A Hoskins; R F Galle; R A George; S E Lewis; S Richards; M Ashburner; S N Henderson; G G Sutton; J R Wortman; M D Yandell; Q Zhang; L X Chen; R C Brandon; Y H Rogers; R G Blazej; M Champe; B D Pfeiffer; K H Wan; C Doyle; E G Baxter; G Helt; C R Nelson; G L Gabor; J F Abril; A Agbayani; H J An; C Andrews-Pfannkoch; D Baldwin; R M Ballew; A Basu; J Baxendale; L Bayraktaroglu; E M Beasley; K Y Beeson; P V Benos; B P Berman; D Bhandari; S Bolshakov; D Borkova; M R Botchan; J Bouck; P Brokstein; P Brottier; K C Burtis; D A Busam; H Butler; E Cadieu; A Center; I Chandra; J M Cherry; S Cawley; C Dahlke; L B Davenport; P Davies; B de Pablos; A Delcher; Z Deng; A D Mays; I Dew; S M Dietz; K Dodson; L E Doup; M Downes; S Dugan-Rocha; B C Dunkov; P Dunn; K J Durbin; C C Evangelista; C Ferraz; S Ferriera; W Fleischmann; C Fosler; A E Gabrielian; N S Garg; W M Gelbart; K Glasser; A Glodek; F Gong; J H Gorrell; Z Gu; P Guan; M Harris; N L Harris; D Harvey; T J Heiman; J R Hernandez; J Houck; D Hostin; K A Houston; T J Howland; M H Wei; C Ibegwam; M Jalali; F Kalush; G H Karpen; Z Ke; J A Kennison; K A Ketchum; B E Kimmel; C D Kodira; C Kraft; S Kravitz; D Kulp; Z Lai; P Lasko; Y Lei; A A Levitsky; J Li; Z Li; Y Liang; X Lin; X Liu; B Mattei; T C McIntosh; M P McLeod; D McPherson; G Merkulov; N V Milshina; C Mobarry; J Morris; A Moshrefi; S M Mount; M Moy; B Murphy; L Murphy; D M Muzny; D L Nelson; D R Nelson; K A Nelson; K Nixon; D R Nusskern; J M Pacleb; M Palazzolo; G S Pittman; S Pan; J Pollard; V Puri; M G Reese; K Reinert; K Remington; R D Saunders; F Scheeler; H Shen; B C Shue; I Sidén-Kiamos; M Simpson; M P Skupski; T Smith; E Spier; A C Spradling; M Stapleton; R Strong; E Sun; R Svirskas; C Tector; R Turner; E Venter; A H Wang; X Wang; Z Y Wang; D A Wassarman; G M Weinstock; J Weissenbach; S M Williams; K C Worley; D Wu; S Yang; Q A Yao; J Ye; R F Yeh; J S Zaveri; M Zhan; G Zhang; Q Zhao; L Zheng; X H Zheng; F N Zhong; W Zhong; X Zhou; S Zhu; X Zhu; H O Smith; R A Gibbs; E W Myers; G M Rubin; J C Venter
Journal:  Science       Date:  2000-03-24       Impact factor: 47.728

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  30 in total

1.  Improving the Arabidopsis genome annotation using maximal transcript alignment assemblies.

Authors:  Brian J Haas; Arthur L Delcher; Stephen M Mount; Jennifer R Wortman; Roger K Smith; Linda I Hannick; Rama Maiti; Catherine M Ronning; Douglas B Rusch; Christopher D Town; Steven L Salzberg; Owen White
Journal:  Nucleic Acids Res       Date:  2003-10-01       Impact factor: 16.971

2.  Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.

Authors:  Atsushi Nishida; Maki Minegishi; Atsuko Takeuchi; Hiroyuki Awano; Emma Tabe Eko Niba; Masafumi Matsuo
Journal:  Hum Genet       Date:  2015-07-08       Impact factor: 4.132

3.  Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.

Authors:  Shuhei Karakawa; Satoshi Okada; Miyuki Tsumura; Yoko Mizoguchi; Norioki Ohno; Shin'ichiro Yasunaga; Motoaki Ohtsubo; Tomoki Kawai; Ryuta Nishikomori; Takemasa Sakaguchi; Yoshihiro Takihara; Masao Kobayashi
Journal:  J Clin Immunol       Date:  2011-07-01       Impact factor: 8.317

4.  Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions.

Authors:  T A Thanaraj; F Clark
Journal:  Nucleic Acids Res       Date:  2001-06-15       Impact factor: 16.971

5.  Genome-wide data-mining of candidate human splice translational efficiency polymorphisms (STEPs) and an online database.

Authors:  Christopher A Raistrick; Ian N M Day; Tom R Gaunt
Journal:  PLoS One       Date:  2010-10-11       Impact factor: 3.240

6.  Analysis of the role of Caenorhabditis elegans GC-AG introns in regulated splicing.

Authors:  Tracy Farrer; A Brock Roller; W James Kent; Alan M Zahler
Journal:  Nucleic Acids Res       Date:  2002-08-01       Impact factor: 16.971

7.  Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Authors:  Sharie B Parks; Jessica D Kushner; Deirdre Nauman; Donna Burgess; Susan Ludwigsen; Amanda Peterson; Duanxiang Li; Petra Jakobs; Michael Litt; Charles B Porter; Peter S Rahko; Ray E Hershberger
Journal:  Am Heart J       Date:  2008-03-12       Impact factor: 4.749

8.  Introns and splicing elements of five diverse fungi.

Authors:  Doris M Kupfer; Scott D Drabenstot; Kent L Buchanan; Hongshing Lai; Hua Zhu; David W Dyer; Bruce A Roe; Juneann W Murphy
Journal:  Eukaryot Cell       Date:  2004-10

9.  Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia.

Authors:  Richard E Straub; Yuxin Jiang; Charles J MacLean; Yunlong Ma; Bradley T Webb; Maxim V Myakishev; Carole Harris-Kerr; Brandon Wormley; Hannah Sadek; Bharat Kadambi; Anthony J Cesare; Avi Gibberman; Xu Wang; F Anthony O'Neill; Dermot Walsh; Kenneth S Kendler
Journal:  Am J Hum Genet       Date:  2002-07-03       Impact factor: 11.025

10.  Genetic and molecular analyses of PEG10 reveal new aspects of genomic organization, transcription and translation.

Authors:  Heike Lux; Heiko Flammann; Mathias Hafner; Andreas Lux
Journal:  PLoS One       Date:  2010-01-13       Impact factor: 3.240

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