Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA - Test2 - elhamkhani - TriplyDB

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

http://www.wikidata.org/entity/Q28308281

about

Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa Export of microRNAs: A Bridge between Breast Carcinoma and Their Neighboring Cells New connections between splicing and human disease LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice Mutations in the NHEJ component XRCC4 cause primordial dwarfism Advances in Skeletal Dysplasia Genetics The significant other: splicing by the minor spliceosome Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review The minor spliceosomal protein U11/U12-31K is an RNA chaperone crucial for U12 intron splicing and the development of dicot and monocot plants.Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Human mutations in integrator complex subunits link transcriptome integrity to brain development.Global analysis of the nuclear processing of transcripts with unspliced U12-type introns by the exosome.A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion.Genetic evaluation of short stature.Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration Primordial dwarfism: overview of clinical and genetic aspects.Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.Modeling human disease in humans: the ciliopathies.Inferring coancestry in population samples in the presence of linkage disequilibrium A Drosophila model of spinal muscular atrophy uncouples snRNP biogenesis functions of survival motor neuron from locomotion and viability defects.Regulation of gene expression through inefficient splicing of U12-type introns Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Alternative exon definition events control the choice between nuclear retention and cytoplasmic export of U11/U12-65K mRNA.The pathogenicity of splicing defects: mechanistic insights into pre-mRNA processing inform novel therapeutic approaches.Differentially expressed, variant U1 snRNAs regulate gene expression in human cells Identity by descent: variation in meiosis, across genomes, and in populations Non-polyadenylated transcription in embryonic stem cells reveals novel non-coding RNA related to pluripotency and differentiation Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.Lessons from non-canonical splicing Variant U1 snRNAs are implicated in human pluripotent stem cell maintenance and neuromuscular disease.Minor class splicing shapes the zebrafish transcriptome during development.Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency.Aberrant splicing in maize rough endosperm3 reveals a conserved role for U12 splicing in eukaryotic multicellular development.Mechanisms and pathways of growth failure in primordial dwarfism.Pre-mRNA splicing in disease and therapeutics.Emerging mechanisms and consequences of calcium regulation of alternative splicing in neurons and endocrine cells.

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P2860

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

http://www.wikidata.org/entity/Q28308281

description

2011 nî lūn-bûn

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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2011 թվականի ապրիլին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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Association of TALS developmen ...... plicing component U4atac snRNA

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SCIENCE.1202205

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Association of TALS developmen ...... plicing component U4atac snRNA

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Audrey Labalme

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Charles Marcaillou

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Elisabeth Steichen

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Emmanuel Tubacher

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Faiza Senni

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Francis Rousseau

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Joelle Chastang

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Mourad Sahbatou

http://www.w3.org/2001/XMLSchema#string

Patrick Edery

http://www.w3.org/2001/XMLSchema#string

Pierre-Simon Jouk

http://www.w3.org/2001/XMLSchema#string

P2860

RNA structural requirements for the association of the spliceosomal hPrp31 protein with the U4 and U4atac small nuclear ribonucleoproteins

Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP

Functional interaction of a novel 15.5kD [U4/U6.U5] tri-snRNP protein with the 5' stem-loop of U4 snRNA

Hierarchical, clustered protein interactions with U4/U6 snRNA: a biochemical role for U4/U6 proteins

A revised model for U4atac/U6atac snRNA base pairing

Domains of human U4atac snRNA required for U12-dependent splicing in vivo

U12DB: a database of orthologous U12-type spliceosomal introns

Crystal structure of the spliceosomal 15.5kD protein bound to a U4 snRNA fragment

The divergent U12-type spliceosome is required for pre-mRNA splicing and is essential for development in Drosophila

A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro

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240-3

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657333

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10.1126/SCIENCE.1202205

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6026

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332

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Françoise Clerget-Darpoux

Michael B Bober

Anne-Louise Leutenegger

Damien Sanlaville

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2011-04-08T00:00:00Z

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51034031

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