Literature DB >> 8755945

Defects in RNA splicing and the consequence of shortened translational reading frames.

L E Maquat.   

Abstract

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Year:  1996        PMID： 8755945      PMCID： PMC1914736     

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


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  56 in total

1.  Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis.

Authors:  S Aoufouchi; J Yélamos; C Milstein
Journal:  Cell       Date:  1996-05-03       Impact factor: 41.582

2.  Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

Authors:  R Gardella; L Belletti; N Zoppi; D Marini; S Barlati; M Colombi
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

3.  Beta Thalassemia: mutations which affect processing of the beta-Globin mRNA precursor.

Authors:  J A Kantor; P H Turner; A W Nienhuis
Journal:  Cell       Date:  1980-08       Impact factor: 41.582

4.  Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

Authors:  I Santisteban; F X Arredondo-Vega; S Kelly; M Loubser; N Meydan; C Roifman; P L Howell; T Bowen; K I Weinberg; M L Schroeder
Journal:  Hum Mol Genet       Date:  1995-11       Impact factor: 6.150

Review 5.  Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Authors:  H C Dietz; R E Pyeritz
Journal:  Hum Mol Genet       Date:  1995       Impact factor: 6.150

6.  beta 0 thalassemia, a nonsense mutation in man.

Authors:  J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-06       Impact factor: 11.205

7.  A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.

Authors:  M Ohno; Y Shimura
Journal:  Genes Dev       Date:  1996-04-15       Impact factor: 11.361

8.  Evidence that the decay of nucleus-associated nonsense mRNA for human triosephosphate isomerase involves nonsense codon recognition after splicing.

Authors:  J Zhang; L E Maquat
Journal:  RNA       Date:  1996-03       Impact factor: 4.942

9.  A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro.

Authors:  M S Carter; J Doskow; P Morris; S Li; R P Nhim; S Sandstedt; M F Wilkinson
Journal:  J Biol Chem       Date:  1995-12-01       Impact factor: 5.157

10.  Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.

Authors:  D A Redford-Badwal; M L Stover; M Valli; M B McKinstry; D W Rowe
Journal:  J Clin Invest       Date:  1996-02-15       Impact factor: 14.808
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  63 in total

1.  Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.

Authors:  U Schwarze; B J Starman; P H Byers
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions.

Authors:  H Le Hir; M J Moore; L E Maquat
Journal:  Genes Dev       Date:  2000-05-01       Impact factor: 11.361

3.  A premature termination codon interferes with the nuclear function of an exon splicing enhancer in an open reading frame-dependent manner.

Authors:  A Gersappe; D J Pintel
Journal:  Mol Cell Biol       Date:  1999-03       Impact factor: 4.272

Review 4.  RNA-protein interactions that regulate pre-mRNA splicing.

Authors:  Ravinder Singh
Journal:  Gene Expr       Date:  2002

5.  The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; G E Tiller; M Le Merrer; S Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; R Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; A Munnich; J Gecz; J C Mulley
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

6.  Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families.

Authors:  R Fujita; M Buraczynska; L Gieser; W Wu; P Forsythe; M Abrahamson; S G Jacobson; P A Sieving; S Andréasson; A Swaroop
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

7.  A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Authors:  B Veldhuisen; J J Saris; S de Haij; T Hayashi; D M Reynolds; T Mochizuki; R Elles; R Fossdal; N Bogdanova; M A van Dijk; E Coto; D Ravine; S Nørby; C Verellen-Dumoulin; M H Breuning; S Somlo; D J Peters
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

8.  Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells.

Authors:  J Zhang; L E Maquat
Journal:  EMBO J       Date:  1997-02-17       Impact factor: 11.598

9.  At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation.

Authors:  J Zhang; X Sun; Y Qian; J P LaDuca; L E Maquat
Journal:  Mol Cell Biol       Date:  1998-09       Impact factor: 4.272

10.  A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells.

Authors:  X Sun; H A Perlick; H C Dietz; L E Maquat
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-18       Impact factor: 11.205
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