相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Alternative splicing and disease
Jamal Tazi et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
The Spliceosome: Design Principles of a Dynamic RNP Machine
Markus C. Wahl et al.
CELL (2009)
Low U1 snRNP dependence at the NF1 exon 29 donor splice site
Michela Raponi et al.
FEBS JOURNAL (2009)
An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM
Tibor Pastor et al.
NUCLEIC ACIDS RESEARCH (2009)
A nonsense exon in the Tpm1 gene is silenced by hnRNP H and F
Joel L. Coles et al.
RNA (2009)
Alu Exonization Events Reveal Features Required for Precise Recognition of Exons by the Splicing Machinery
Schraga Schwartz et al.
PLOS COMPUTATIONAL BIOLOGY (2009)
Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1
Michela Raponi et al.
FEBS JOURNAL (2008)
Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases?
Linda Hartmann
Frontiers in Bioscience-Landmark (2008)
Splicing fidelity, enhancers, and disease
Amanda S. Solis et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2008)
Evaluation of in silico splice tools for decision-making in molecular diagnosis
Claude Houdayer et al.
HUMAN MUTATION (2008)
Alternative isoform regulation in human tissue transcriptomes
Eric T. Wang et al.
NATURE (2008)
Polypyrimidine tract binding protein controls the transition from exon definition to an intron defined spliceosome
Shalini Sharma et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2008)
Requirements for gene silencing mediated by U1 snRNA binding to a target sequence
Xabi Abad et al.
NUCLEIC ACIDS RESEARCH (2008)
Minor spliceosome components are predominantly localized in the nucleus
Heli K. J. Pessa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Conserved RNA secondary structures promote alternative splicing
Peter J. Shepard et al.
RNA (2008)
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
Zefeng Wang et al.
RNA (2008)
Combinatorial control of exon recognition
Klemens J. Hertel
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Pre-mRNA secondary structures influence exon recognition
Michael Hiller et al.
PLOS GENETICS (2007)
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang et al.
NATURE REVIEWS GENETICS (2007)
Pre-spliceosomal binding of U1 small nuclear ribonucleoprotein (RNP) and heterogenous nuclear RNP E1 is associated with suppression of a growth hormone receptor pseudoexon
Scott A. Akker et al.
MOLECULAR ENDOCRINOLOGY (2007)
Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors
Yen-I G. Chen et al.
NUCLEIC ACIDS RESEARCH (2007)
RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events
Emanuele Buratti et al.
NUCLEIC ACIDS RESEARCH (2007)
Modulating the expression of disease genes with RNA-Based therapy
Matthew Wood et al.
PLOS GENETICS (2007)
Functional spliceosomal A complexes can be assembled in vitro in the absence of a penta-snRNP
Nastaran Behzadnia et al.
RNA (2006)
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
Philip J. Smith et al.
HUMAN MOLECULAR GENETICS (2006)
NF1 mRNA biogenesis:: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region
Marco Baralle et al.
FEBS LETTERS (2006)
Alternative splicing and RNA selection pressure - evolutionary consequences for eukaryotic genomes
Yi Xing et al.
NATURE REVIEWS GENETICS (2006)
Protein composition and electron microscopy structure of affinity-purified human spliceosomal B complexes isolated under physiological conditions
Jochen Deckert et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
An apparent pseudo-exon acts both as an alternative exon that leads to nonsense-mediated decay and as a zero-length exon
SN Grellscheid et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
Novel modes of splicing repression by PTB
R Spellman et al.
TRENDS IN BIOCHEMICAL SCIENCES (2006)
Defective splicing, disease and therapy: searching for master checkpoints in exon definition
Emanuele Buratti et al.
NUCLEIC ACIDS RESEARCH (2006)
The architecture of pre-mRNAs affects mechanisms of splice-site pairing
KL Fox-Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors
J Soret et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Dichotomous splicing signals in exon flanks
XHF Zhang et al.
GENOME RESEARCH (2005)
Retroviral splicing suppressor sequesters a 3′ splice site in a 50S aberrant splicing complex
KE Giles et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
A combinatorial code for splicing silencing: UAGG and GGGG motifs
K Han et al.
PLOS BIOLOGY (2005)
Functional studies on the ATM intronic splicing processing element
MA Lewandowska et al.
NUCLEIC ACIDS RESEARCH (2005)
Silencer elements as possible inhibitors of pseudoexon splicing
M Sironi et al.
NUCLEIC ACIDS RESEARCH (2004)
RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA dxon
E Buratti et al.
MOLECULAR AND CELLULAR BIOLOGY (2004)
hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHβ genes
E Buratti et al.
NUCLEIC ACIDS RESEARCH (2004)
Systematic identification and analysis of exonic splicing silencers
ZF Wang et al.
CELL (2004)
Computational definition of sequence motifs governing constitutive exon splicing
XHF Zhang et al.
GENES & DEVELOPMENT (2004)
ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
NUCLEIC ACIDS RESEARCH (2003)
Mfold web server for nucleic acid folding and hybridization prediction
M Zuker
NUCLEIC ACIDS RESEARCH (2003)
The spliceosome: the most complex macromolecular machine in the cell?
TW Nilsen
BIOESSAYS (2003)
Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein
CL Will et al.
EMBO JOURNAL (2002)
A new type of mutation causes a splicing defect in ATM
F Pagani et al.
NATURE GENETICS (2002)
Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions
TA Thanaraj et al.
NUCLEIC ACIDS RESEARCH (2001)
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
E Buratti et al.
EMBO JOURNAL (2001)
Caspase-2 pre-mRNA alternative splicing:: Identification of an intronic element containing a decoy 3′ acceptor site
J Côté et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Human genomic sequences that inhibit splicing
WG Fairbrother et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
Alternative pre-mRNA splicing:: the logic of combinatorial control
CWJ Smith et al.
TRENDS IN BIOCHEMICAL SCIENCES (2000)
Functional association of U2 snRNP with the ATP-independent spliceosomal complex E
R Das et al.
MOLECULAR CELL (2000)
Multiple splicing defects in an intronic false exon
HZ Sun et al.
MOLECULAR AND CELLULAR BIOLOGY (2000)
分享论文
