Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
about
A general definition and nomenclature for alternative splicing eventsDBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sitesComprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesLarge-scale transcriptome sequencing and gene analyses in the crab-eating macaque (Macaca fascicularis) for biomedical researchIdentification and analysis of ancestral hominoid transcriptome inferred from cross-species transcript and processed pseudogene comparisonsAlternative splicing: a missing piece in the puzzle of intron gainProtein interactions in human genetic diseases.Multiple non-collinear TF-map alignments of promoter regions.Functional importance of different patterns of correlation between adjacent cassette exons in human and mouse.Regulation of expression of two LY-6 family genes by intron retention and transcription induced chimerism.Splice-mediated Variants of Proteins (SpliVaP) - data and characterization of changes in signatures among protein isoforms due to alternative splicingDifferentially expressed alternatively spliced genes in malignant pleural mesothelioma identified using massively parallel transcriptome sequencingThe intronic splicing code: multiple factors involved in ATM pseudoexon definition.An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicingComplementary intron sequence motifs associated with human exon repetition: a role for intragenic, inter-transcript interactions in gene expression.Muscleblind-like 1 (Mbnl1) promotes insulin receptor exon 11 inclusion via binding to a downstream evolutionarily conserved intronic enhancer.Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Alteration of introns in a hyaluronan synthase 1 (HAS1) minigene convert Pre-mRNA [corrected] splicing to the aberrant pattern in multiple myeloma (MM): MM patients harbor similar changes.ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.WISP1 polymorphisms contribute to platinum-based chemotherapy toxicity in lung cancer patients.Dysfunctional gene splicing as a potential contributor to neuropsychiatric disorders.RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation.Functional analysis of deep intronic SNP rs13438494 in intron 24 of PCLO gene.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria.Advances in therapeutic development for spinal muscular atrophy.Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsMolecular Basis of KELnull Phenotype in Brazilians.In silico screening based on predictive algorithms as a design tool for exon skipping oligonucleotides in Duchenne muscular dystrophyCoevolutionary networks of splicing cis-regulatory elementsFunctional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNAComputational Inferences of the Functions of Alternative/Noncanonical Splice Isoforms Specific to HER2+/ER-/PR- Breast Cancers, a Chromosome 17 C-HPP Study.Deletion of many yeast introns reveals a minority of genes that require splicing for function.A novel mutation in the β-spectrin gene causes the activation of a cryptic 5'-splice site and the creation of a de novo 3'-splice site.Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice.
P2860
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P2860
Defective splicing, disease and therapy: searching for master checkpoints in exon definition.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Defective splicing, disease an ...... heckpoints in exon definition.
@ast
Defective splicing, disease an ...... heckpoints in exon definition.
@en
type
label
Defective splicing, disease an ...... heckpoints in exon definition.
@ast
Defective splicing, disease an ...... heckpoints in exon definition.
@en
prefLabel
Defective splicing, disease an ...... heckpoints in exon definition.
@ast
Defective splicing, disease an ...... heckpoints in exon definition.
@en
P2860
P356
P1476
Defective splicing, disease an ...... checkpoints in exon definition
@en
P2093
Francisco E Baralle
Marco Baralle
P2860
P304
P356
10.1093/NAR/GKL498
P407
P5008
P577
2006-07-19T00:00:00Z