Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

Proceedings of the National Academy of Sciences of the United States of America - 3 May 2005

Pagani Franco, Raponi Michela, Baralle Francisco E

Abstract excerpt

It is well established that exonic sequences contain regulatory elements of splicing that overlap with coding capacity. However, the conflict between ensuring splicing efficiency and preserving the coding capacity for an optimal protein during evolution has not been specifically analyzed. In fact, studies on genomic variability in fields as diverse as clinical genetics and molecular evolution mainly focus on the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cystic Fibrosis Transmembrane Conductance Regulator
Share to Mammals

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutagenesis

Share to Oligonucleotides

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA Splicing

Share to Selection, Genetic

Share to Sequence Alignment

Source

Open in PubMed Open full text

Identifiers

PMID: 15840711
DOI: 10.1073/pnas.0502288102
PMCID: PMC1088389

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.PMID 15840711Read ↗

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.Semantic proximity Read ↗

The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical PresentationSemantic proximity Read ↗

A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.Semantic proximity Read ↗

The Silent Sway of Splicing by Synonymous Substitutions.Semantic proximity Read ↗

Exposing synonymous mutations.Semantic proximity Read ↗

Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12.Semantic proximity Read ↗

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy.Semantic proximity Read ↗

Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect.Semantic proximity Read ↗

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels.Semantic proximity Read ↗

A minimal role for synonymous variation in human disease.Semantic proximity Read ↗

Hearing silence: non-neutral evolution at synonymous sites in mammals.Semantic proximity Read ↗

Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.