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

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

European journal of human genetics : EJHG - 1 Dec 2013

von Kanel Thomas, Stanke Frauke, Weber Melanie, Schaller Andre, Racine Julien, Kraemer Richard, Chanson Marc, Tümmler Burkhard, Gallati Sabina

Abstract excerpt

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator gene (CFTR). Disease severity in CF varies greatly, and sibling studies strongly indicate that genes other than CFTR modify disease outcome. Syntaxin 1A (STX1A) has been reported as a negative regulator of CFTR and other ion channels. We hypothesized that STX1A variants act as a CF modifier by influencing the remaining...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Genomic Structural Variation

Share to Linkage Disequilibrium

Share to RNA, Messenger

Share to Syntaxin 1

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 23572023
DOI: 10.1038/ejhg.2013.57
PMCID: PMC3831073

Genes

CFTR

Variants

rs4363087

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.PMID 23572023Read ↗

The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR MutationsSemantic proximity Read ↗

Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.Semantic proximity Read ↗

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.Semantic proximity Read ↗

Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene SCNN1B in Three Independent F508del-CFTR Homozygous Patient Populations.Semantic proximity Read ↗

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

ENaCbeta and gamma genes as modifier genes in cystic fibrosis.Semantic proximity Read ↗

DNA methylation at modifier genes of lung disease severity is altered in cystic fibrosisSemantic proximity Read ↗

Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.Semantic proximity Read ↗

Syntaxin 1A inhibits CFTR chloride channels by means of domain-specific protein-protein interactions.Semantic proximity Read ↗

SCNM1, a putative RNA splicing factor that modifies disease severity in mice.Semantic proximity Read ↗

Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection.Semantic proximity Read ↗

FAM13A is a modifier gene of cystic fibrosis lung phenotype regulating rhoa activity, actin cytoskeleton dynamics and epithelial-mesenchymal transition.Semantic proximity Read ↗

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