Related references
Note: Only part of the references are listed.Ataluren as an Agent for Therapeutic Nonsense Suppression
Stuart W. Peltz et al.
ANNUAL REVIEW OF MEDICINE, VOL 64 (2013)
Nonsense-mediated mRNA decay - Mechanisms of substrate mRNA recognition and degradation in mammalian cells
Christoph Schweingruber et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE REGULATORY MECHANISMS (2013)
Orchestrated Intron Retention Regulates Normal Granulocyte Differentiation
Justin J-L Wong et al.
CELL (2013)
Regulation of Axon Guidance by Compartmentalized Nonsense-Mediated mRNA Decay
Dilek Colak et al.
CELL (2013)
Lessons from the Cancer Genome
Levi A. Garraway et al.
CELL (2013)
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Lam S. Nguyen et al.
HUMAN MOLECULAR GENETICS (2013)
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis
Hideki Makishima et al.
BLOOD (2012)
Defects in spliceosomal machinery: a new pathway of leukaemogenesis
Jaroslaw P. Maciejewski et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
A U1-U2 snRNP Interaction Network during Intron Definition
Wei Shao et al.
MOLECULAR AND CELLULAR BIOLOGY (2012)
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
Andrew V. Biankin et al.
NATURE (2012)
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
Victor Quesada et al.
NATURE GENETICS (2012)
Differential GC Content between Exons and Introns Establishes Distinct Strategies of Splice-Site Recognition
Maayan Amit et al.
CELL REPORTS (2012)
Regulation of nonsense-mediated mRNA decay
Lulu Huang et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2012)
Mammalian tissues defective in nonsense-mediated mRNA decay display highly aberrant splicing patterns
Joachim Weischenfeldt et al.
GENOME BIOLOGY (2012)
Epigenetics in Alternative Pre-mRNA Splicing
Reini F. Luco et al.
CELL (2011)
Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question
Jungwook Hwang et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Frequent pathway mutations of splicing machinery in myelodysplasia
Kenichi Yoshida et al.
NATURE (2011)
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
Xose S. Puente et al.
NATURE (2011)
Somatic SF3B1 Mutation in Myelodysplasia with Ring Sideroblasts
E. Papaemmanuil et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia
Lili Wang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes
Kian Huat Lim et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
Patrick Edery et al.
SCIENCE (2011)
Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
Huiling He et al.
SCIENCE (2011)
Relationship between nucleosome positioning and DNA methylation
Ramakrishna K. Chodavarapu et al.
NATURE (2010)
Expansion of the eukaryotic proteome by alternative splicing
Timothy W. Nilsen et al.
NATURE (2010)
Alternative splicing and evolution: diversification, exon definition and function
Hadas Keren et al.
NATURE REVIEWS GENETICS (2010)
UPF2 Is a Critical Regulator of Liver Development, Function and Regeneration
Lina A. Thoren et al.
PLOS ONE (2010)
Intron retention facilitates splice variant diversity in calcium-activated big potassium channel populations
Thomas J. Bell et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay
David R. McIlwain et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
First come, first served revisited: Factors affecting the same alternative splicing event have different effects on the relative rates of intron removal
Manuel de la Mata et al.
RNA (2010)
Regulation of Alternative Splicing by Histone Modifications
Reini F. Luco et al.
SCIENCE (2010)
Axon Growth and Guidance: Receptor Regulation and Signal Transduction
Michael O'Donnell et al.
Annual Review of Neuroscience (2009)
The SR protein family of splicing factors: master regulators of gene expression
Jennifer C. Long et al.
BIOCHEMICAL JOURNAL (2009)
Identification of a myeloid committed progenitor as the cancer-initiating cell in acute promyelocytic leukemia
Florence C. Guibal et al.
BLOOD (2009)
Nucleosomes are well positioned in exons and carry characteristic histone modifications
Robin Andersson et al.
GENOME RESEARCH (2009)
Biased Chromatin Signatures around Polyadenylation Sites and Exons
Noah Spies et al.
MOLECULAR CELL (2009)
Chromatin organization marks exon-intron structure
Schraga Schwartz et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2009)
Nucleosomal Fluctuations Govern the Transcription Dynamics of RNA Polymerase II
Courtney Hodges et al.
SCIENCE (2009)
NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements
Joachim Weischenfeldt et al.
GENES & DEVELOPMENT (2008)
A meta-analysis of nonsense mutations causing human genetic disease
Matthew Mort et al.
HUMAN MUTATION (2008)
Alternative isoform regulation in human tissue transcriptomes
Eric T. Wang et al.
NATURE (2008)
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
Qun Pan et al.
NATURE GENETICS (2008)
The multiple lives of NMD factors: balancing roles in gene and genome regulation
Olaf Isken et al.
NATURE REVIEWS GENETICS (2008)
Alternative splicing of the Robo3 axon guidance receptor governs the midline switch from attraction to repulsion
Zhe Chen et al.
NEURON (2008)
Elucidation of the phenotypic, functional, and molecular topography of a myeloerythroid progenitor cell hierarchy
Cornelis J. H. Pronk et al.
CELL STEM CELL (2007)
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Patrick S. Tarpey et al.
NATURE GENETICS (2007)
Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function
Olaf Isken et al.
GENES & DEVELOPMENT (2007)
PTC124 targets genetic disorders caused by nonsense mutations
Ellen M. Welch et al.
NATURE (2007)
Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements
Liana F. Lareau et al.
NATURE (2007)
Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay
Julie Z. Ni et al.
GENES & DEVELOPMENT (2007)
Sequence features responsible for intron retention in human
Noboru Jo Sakabe et al.
BMC GENOMICS (2007)
Single base-pair substitutions in exon-intron junctions of human genes: Nature, distribution, and consequences for mRNA splicing
Michael Krawczak et al.
HUMAN MUTATION (2007)
The highways and byways of mRNA decay
Nicole L. Garneau et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)
Quantitative microarray profiling provides evidence against widespread coupling of alternative splicing with nonsense-mediated mRNA decay to control gene expression
Q Pan et al.
GENES & DEVELOPMENT (2006)
Differential nonsense mediated decay of mutated mRNAs in mismatch repair deficient colorectal cancers
J El-Bchiri et al.
HUMAN MOLECULAR GENETICS (2005)
Rules of engagement: co-transcriptional recruitment of pre-mRNA processing factors
DL Bentley
CURRENT OPINION IN CELL BIOLOGY (2005)
Conserved roles for slit and robo proteins in midline commissural axon guidance
H Long et al.
NEURON (2004)
Nonsense-mediated decay approaches the clinic
JA Holbrook et al.
NATURE GENETICS (2004)
Intron retention generates a novel Id3 isoform that inhibits vascular lesion formation
ST Forrest et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise
JT Mendell et al.
NATURE GENETICS (2004)
Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays
JM Johnson et al.
SCIENCE (2003)
A slow RNA polymerase II affects alternative splicing in vivo
M de la Mata et al.
MOLECULAR CELL (2003)
Pre-mRNA splicing and human disease
NA Faustino et al.
GENES & DEVELOPMENT (2003)
Comprehensive proteomic analysis of the human spliceosome
ZL Zhou et al.
NATURE (2002)
Alternative pre-mRNA splicing and proteome expansion in metazoans
T Maniatis et al.
NATURE (2002)
Antagonistic effects of T-Ag and VP16 reveal a role for RNA pol II elongation on alternative splicing
S Kadener et al.
EMBO JOURNAL (2001)
SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs
A Sureau et al.
EMBO JOURNAL (2001)
Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability
SM Medghalchi et al.
HUMAN MOLECULAR GENETICS (2001)