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
about
Next generation sequencing technology and genomewide data analysis: Perspectives for retinal researchAdvances in understanding the molecular basis of the first steps in color visionComparative Transcriptome Analysis Reveals Substantial Tissue Specificity in Human Aortic ValveMutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaAlternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.Targeted exon sequencing in Usher syndrome type IA homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.Clinical characteristics and current therapies for inherited retinal degenerationsComprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisionsAlternative splicing of the LIM-homeodomain transcription factor Isl1 in the mouse retina.Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and diseaseTranscriptome of the human retina, retinal pigmented epithelium and choroid.Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis PigmentosaApplication of quantitative trait locus mapping and transcriptomics to studies of the senescence-accelerated phenotype in rats.RNA-Seq: Improving Our Understanding of Retinal Biology and Disease.Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial CellsHuman splicing diversity and the extent of unannotated splice junctions across human RNA-seq samples on the Sequence Read Archive.Tissue resolved, gene structure refined equine transcriptomeIdentification and prediction of alternative transcription start sites that generate rod photoreceptor-specific transcripts from ubiquitously expressed genes.Gene expression changes in the retina following subretinal injection of human neural progenitor cells into a rodent model for retinal degeneration.Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.Transcriptome Analysis on Monocytes from Patients with Neovascular Age-Related Macular Degeneration.An atlas of gene expression and gene co-regulation in the human retina.Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell linesIdentification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis PigmentosaAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patientsUsing induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesMutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.Exome-based mapping and variant prioritization for inherited Mendelian disorders.Differential Gene Expression in Age-Related Macular DegenerationCharacterization of lincRNA expression in the human retinal pigment epithelium and differentiated induced pluripotent stem cells.Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.
P2860
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P2860
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
description
2013 nî lūn-bûn
@nan
2013 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Transcriptome analyses of the ...... ative splicing and novel genes
@ast
Transcriptome analyses of the ...... ative splicing and novel genes
@en
Transcriptome analyses of the ...... ative splicing and novel genes
@nl
type
label
Transcriptome analyses of the ...... ative splicing and novel genes
@ast
Transcriptome analyses of the ...... ative splicing and novel genes
@en
Transcriptome analyses of the ...... ative splicing and novel genes
@nl
prefLabel
Transcriptome analyses of the ...... ative splicing and novel genes
@ast
Transcriptome analyses of the ...... ative splicing and novel genes
@en
Transcriptome analyses of the ...... ative splicing and novel genes
@nl
P2093
P2860
P356
P1433
P1476
Transcriptome analyses of the ...... ative splicing and novel genes
@en
P2093
Eric A Pierce
Gregory R Grant
Joseph A White
Maria E Sousa
Mark B Consugar
Michael H Farkas
P2860
P356
10.1186/1471-2164-14-486
P407
P577
2013-07-18T00:00:00Z