Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
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New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicalsIn silico tools for splicing defect prediction: a survey from the viewpoint of end usersComprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenesU2AF65 adapts to diverse pre-mRNA splice sites through conformational selection of specific and promiscuous RNA recognition motifs.Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.The exon junction complex controls transposable element activity by ensuring faithful splicing of the piwi transcript.Hydrogen peroxide alters splicing of soluble guanylyl cyclase and selectively modulates expression of splicing regulators in human cancer cells.Functional characterization of BRCA1 gene variants by mini-gene splicing assay.In silico prediction of splice-altering single nucleotide variants in the human genome.Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenicFunctional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsInsights from GWAS: emerging landscape of mechanisms underlying complex trait diseaseExonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Antisense suppression of donor splice site mutations in the dystrophin gene transcript.Alternative splicing: good and bad effects of translationally silent substitutions.Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficienciesFrom single splicing events to thousands: the ambiguous step forward in splicing research.Role of pseudoexons and pseudointrons in human cancer.Molecular genetic epidemiology of human diseases: from patterns to predictions.Targeting TDP-43 in neurodegenerative diseases.Expression of tumor-promoting Cyr61 is regulated by hTRA2-β1 and acidosis.Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.Abnormalities in alternative splicing of angiogenesis-related genes and their role in HIV-related cancers.Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3BSplicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level.Characterization of variegate porphyria mutations using a minigene approach.Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site.A study of splicing mutations in disorders of sex development.
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Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on August 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
@en
Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
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type
label
Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
@en
Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
@nl
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Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
@en
Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
@nl
P2860
P50
P356
P1433
P1476
Missed threads. The impact of pre-mRNA splicing defects on clinical practice
@en
P2093
Anneke Lucassen
Diana Baralle
P2860
P304
P356
10.1038/EMBOR.2009.170
P577
2009-08-01T00:00:00Z