Literature DB >> 9042933

Nonsense mutations and altered splice-site selection.

H C Dietz.   

Abstract

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Year:  1997        PMID： 9042933      PMCID： PMC1712508     

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


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  6 in total

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

Authors:  L E Maquat
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

2.  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

3.  Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.

Authors:  H C Dietz; R J Kendzior
Journal:  Nat Genet       Date:  1994-10       Impact factor: 38.330

4.  Mammalian orthologues of a yeast regulator of nonsense transcript stability.

Authors:  H A Perlick; S M Medghalchi; F A Spencer; R J Kendzior; H C Dietz
Journal:  Proc Natl Acad Sci U S A       Date:  1996-10-01       Impact factor: 11.205

5.  The skipping of constitutive exons in vivo induced by nonsense mutations.

Authors:  H C Dietz; D Valle; C A Francomano; R J Kendzior; R E Pyeritz; G R Cutting
Journal:  Science       Date:  1993-01-29       Impact factor: 47.728

6.  Low cytoplasmic mRNA levels of immunoglobulin kappa light chain genes containing nonsense codons correlate with inefficient splicing.

Authors:  F Lozano; B Maertzdorf; R Pannell; C Milstein
Journal:  EMBO J       Date:  1994-10-03       Impact factor: 11.598
  6 in total
  8 in total

Review 1.  RNA-protein interactions that regulate pre-mRNA splicing.

Authors:  Ravinder Singh
Journal:  Gene Expr       Date:  2002

2.  Binary specification of nonsense codons by splicing and cytoplasmic translation.

Authors:  R Thermann; G Neu-Yilik; A Deters; U Frede; K Wehr; C Hagemeier; M W Hentze; A E Kulozik
Journal:  EMBO J       Date:  1998-06-15       Impact factor: 11.598

3.  The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.

Authors:  Sikandar G Khan; Vanessa Muniz-Medina; Tala Shahlavi; Carl C Baker; Hiroki Inui; Takahiro Ueda; Steffen Emmert; Thomas D Schneider; Kenneth H Kraemer
Journal:  Nucleic Acids Res       Date:  2002-08-15       Impact factor: 16.971

4.  Unspliced Rous sarcoma virus genomic RNAs are translated and subjected to nonsense-mediated mRNA decay before packaging.

Authors:  Jason J LeBlanc; Karen L Beemon
Journal:  J Virol       Date:  2004-05       Impact factor: 5.103

5.  A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Authors:  Massimo Caputi; Raymond J Kendzior; Karen L Beemon
Journal:  Genes Dev       Date:  2002-07-15       Impact factor: 11.361

6.  Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.

Authors:  Feng Xiong; Jianjun Gao; Jun Li; Yun Liu; Guoyin Feng; Wenli Fang; Hongfen Chang; Jiang Xie; Haitao Zheng; Tingyu Li; Lin He
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

Review 7.  Genetics of isolated growth hormone deficiency.

Authors:  Primus E Mullis
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-05-01

8.  CRISPR-induced exon skipping is dependent on premature termination codon mutations.

Authors:  Tingting Sui; Yuning Song; Zhiquan Liu; Mao Chen; Jichao Deng; Yuanyuan Xu; Liangxue Lai; Zhanjun Li
Journal:  Genome Biol       Date:  2018-10-17       Impact factor: 13.583
  8 in total

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