Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
about
Further understanding human disease genes by comparing with housekeeping genes and other genesNovel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosisStrong purifying selection at synonymous sites in D. melanogasterStatistical evidence for conserved, local secondary structure in the coding regions of eukaryotic mRNAs and pre-mRNAs.Evolutionary selection across the nuclear hormone receptor superfamily with a focus on the NR1I subfamily (vitamin D, pregnane X, and constitutive androstane receptors).Regions of extreme synonymous codon selection in mammalian genesDecoding mechanisms by which silent codon changes influence protein biogenesis and functionGenetic variation of pre-mRNA alternative splicing in human populationsThe interface of protein structure, protein biophysics, and molecular evolutionFunctional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic TelangiectasiaAre synonymous codons indeed synonymous?RNA and diseaseBoth Maintenance and Avoidance of RNA-Binding Protein Interactions Constrain Coding Sequence Evolution.regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution.An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.Targeted exome sequencing for the identification of a protective variant against Internet gaming disorder at rs2229910 of neurotrophic tyrosine kinase receptor, type 3 (NTRK3): A pilot study.Functional annotation and identification of candidate disease genes by computational analysis of normal tissue gene expression data.High guanine and cytosine content increases mRNA levels in mammalian cellsPre-mRNA secondary structures influence exon recognition.Relationship between mRNA secondary structure and sequence variability in Chloroplast genes: possible life history implicationsPrediction of human disease genes by human-mouse conserved coexpression analysis.Evolutionary genomics reveals lineage-specific gene loss and rapid evolution of a sperm-specific ion channel complex: CatSpers and CatSperbeta.Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12Selection on synonymous codons in mammalian rhodopsins: a possible role in optimizing translational processesExonic splicing signals impose constraints upon the evolution of enzymatic activity.SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.Frame-disrupting mutations elicit pre-mRNA accumulation independently of frame disruptionFrameshift indels introduced by genome editing can lead to in-frame exon skipping.A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.Evidence for a role of the NOS1AP (CAPON) gene in schizophrenia and its clinical dimensions: an association study in a South American population isolate.Genomic features defining exonic variants that modulate splicing.Tag SNP polymorphism of CCL2 and its role in clinical tuberculosis in Han Chinese pediatric populationFUS mutations in sporadic amyotrophic lateral sclerosisEvidence of functional selection pressure for alternative splicing events that accelerate evolution of protein subsequences.BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.Synonymous but not the same: the causes and consequences of codon biasEvolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11Identification of single nucleotide polymorphisms in Toll-like receptor candidate genes associated with tuberculosis infection in water buffalo (Bubalus bubalis).Comparison of multiple vertebrate genomes reveals the birth and evolution of human exons.A simple method for estimating the strength of natural selection on overlapping genes.
P2860
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P2860
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
@nl
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@ast
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@en
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@en-gb
type
label
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
@nl
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@ast
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@en
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@en-gb
prefLabel
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
@nl
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@ast
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@en
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.
@en-gb
P2860
P3181
P356
P1476
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
@en
P2093
Francisco E Baralle
Michela Raponi
P2860
P304
P3181
P356
10.1073/PNAS.0502288102
P407
P577
2005-04-19T00:00:00Z