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。BEDTools: a flexible suite of utilities for comparing genomic features
Aaron R. Quinlan et al.
BIOINFORMATICS (2010)
The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy
Simona Pedrotti et al.
EMBO JOURNAL (2010)
Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
Yimin Hua et al.
GENES & DEVELOPMENT (2010)
A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
Sungchan Cho et al.
GENES & DEVELOPMENT (2010)
The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer
Steven F. Dobrowolski et al.
MOLECULAR GENETICS AND METABOLISM (2010)
The UCSC Genome Browser database: update 2010
Brooke Rhead et al.
NUCLEIC ACIDS RESEARCH (2010)
Regulation of SMN Protein Stability
Barrington G. Burnett et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Cooperative-Binding and Splicing-Repressive Properties of hnRNP A1
Hazeem L. Okunola et al.
MOLECULAR AND CELLULAR BIOLOGY (2009)
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
Francois-Olivier Desmet et al.
NUCLEIC ACIDS RESEARCH (2009)
The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing
M. Bryan Warf et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Differential 3′ splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP
Mafalda Martins de Araujo et al.
RNA (2009)
Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in Transgenic mice
Yimin Hua et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
Akio Masuda et al.
HUMAN MOLECULAR GENETICS (2008)
Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)
J. Hansen et al.
NEUROSCIENCE (2008)
hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
Tsuyoshi Kashima et al.
HUMAN MOLECULAR GENETICS (2007)
Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy
Matthew E. R. Butchbach et al.
NEUROBIOLOGY OF DISEASE (2007)
Control of Pre-mRNA Splicing by the General Splicing Factors PUF60 and U2AF65
Michelle L. Hastings et al.
PLOS ONE (2007)
Members of the heterogeneous nuclear ribonucleoprotein H family activate splicing of an HIV-1 splicing substrate by promoting formation of ATP-dependent spliceosomal complexes
Michael C. Schaub et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Enhancement of SMN2 Exon 7 inclusion by antisense oligonucleotides targeting the exon
Yimin Hua et al.
PLOS BIOLOGY (2007)
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations:: A synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer
Karsten Bork Nielsen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
An intronic element contributes to splicing repression in spinal muscular atrophy
Tsuyoshi Kashima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior
Claus Lenski et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Comprehensive splice-site analysis using comparative genomics
Nihar Sheth et al.
NUCLEIC ACIDS RESEARCH (2006)
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
L Cartegni et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
TT Le et al.
HUMAN MOLECULAR GENETICS (2005)
Characterization of a U2AF-independent commitment complex (E ') in the mammalian spliceosome assembly pathway
OA Kent et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
NN Singh et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2004)
Proteomic analysis of rat liver peroxisome - Presence of peroxisome-specific isozyme of Lon protease
M Kikuchi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
The UCSC Table Browser data retrieval tool
D Karolchik et al.
NUCLEIC ACIDS RESEARCH (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1
A Zatkova et al.
HUMAN MUTATION (2004)
Human immunodeficiency virus type 1 hnRNP A/B-Dep endent exonic splicing silencer ESSV antagonizes binding of U2AF65 to viral polypyrimidine tracts
JK Domsic et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
T Kashima et al.
NATURE GENETICS (2003)
ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
NUCLEIC ACIDS RESEARCH (2003)
Listening to silence and understanding nonsense: Exonic mutations that affect splicing
L Cartegni et al.
NATURE REVIEWS GENETICS (2002)
Quantitative analyses of SMN1 and SMN2 based on real-time LightCycler PCR:: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
M Feldkötter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H′/F/2H9 family
M Caputi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
The role of U2AF35 and U2AF65 in enhancer-dependent splicing
BR Graveley et al.
RNA (2001)
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
CL Lorson et al.
HUMAN MOLECULAR GENETICS (2000)