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。Differential evolution of signal-responsive RNA elements and upstream factors that control alternative splicing
Jiuyong Xie
CELLULAR AND MOLECULAR LIFE SCIENCES (2014)
Correcting for Differential Transcript Coverage Reveals a Strong Relationship between Alternative Splicing and Organism Complexity
Lu Chen et al.
MOLECULAR BIOLOGY AND EVOLUTION (2014)
Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools
Lucie Grodecka et al.
PLOS ONE (2014)
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
Sobia Shafique et al.
PLOS ONE (2014)
Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5 Mb of novel transcribed sequence via significant alternative splicing and novel genes
Michael H. Farkas et al.
BMC GENOMICS (2013)
Alternative splicing and retinal degeneration
M. M. Liu et al.
CLINICAL GENETICS (2013)
Pick one, but be quick: 5′ splice sites and the problems of too many choices
Xavier Roca et al.
GENES & DEVELOPMENT (2013)
Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model
Ron Bochner et al.
HUMAN MOLECULAR GENETICS (2013)
Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis
Alejandro Garanto et al.
PLOS ONE (2013)
Genome-wide transcriptome analysis in murine neural retina using high-throughput RNA sequencing
Ece D. Gamsiz et al.
GENOMICS (2012)
Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
Rob W. J. Collin et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2012)
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation
Xavier Gerard et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2012)
High Transcriptional Complexity of the Retinitis Pigmentosa CERKL Gene in Human and Mouse
Alejandro Garanto et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype
Jordan T. Gladman et al.
HUMAN MOLECULAR GENETICS (2010)
CEP290, a Gene with Many Faces: Mutation Overview and Presentation of CEP290base
Frauke Coppieters et al.
HUMAN MUTATION (2010)
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
Frauke Coppieters et al.
HUMAN MUTATION (2010)
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
Branch Craige et al.
JOURNAL OF CELL BIOLOGY (2010)
Characterization of the transcripts and protein isoforms for cytoplasmic polyadenylation element binding protein-3 (CPEB3) in the mouse retina
Xiang-Ping Wang et al.
BMC MOLECULAR BIOLOGY (2009)
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
Valeska Frank et al.
HUMAN MUTATION (2008)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect
Matthew M. Hims et al.
GENOMICS (2007)
Identification and characterization of a novel RPGR isoform in human retina
John Neidhardt et al.
HUMAN MUTATION (2007)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer et al.
NATURE GENETICS (2006)
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Bo Chang et al.
HUMAN MOLECULAR GENETICS (2006)
Humanized β-thalassemia mouse model containing the common IVSI-110 splicing mutation
J Vadolas et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Bioinformatics of alternative splicing and its regulation
Liliana Florea
BRIEFINGS IN BIOINFORMATICS (2006)
RASE:: recognition of alternatively spliced exons in C.elegans
G Rätsch et al.
BIOINFORMATICS (2005)
Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization
XR Lu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation
G Kol et al.
HUMAN MOLECULAR GENETICS (2005)
Species-specific splicing and expression of angiotensin converting enzyme
XL Tian et al.
BIOCHEMICAL PHARMACOLOGY (2003)
Aberrant splicing induced by missense mutations in BRCA1:: clues from a humanized mouse model
YP Yang et al.
HUMAN MOLECULAR GENETICS (2003)
Alternative pre-mRNA splicing and proteome expansion in metazoans
T Maniatis et al.
NATURE (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)