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

Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus.

Autoimmunity - 1 Feb 2014

Zouk Hana, Marchand Luc, Li Quan, Polychronakos Constantin

Abstract excerpt

The Thr allele at the Thr946Ala non-synonymous single-nucleotide polymorphism (nsSNP) in the IFIH1 gene confers risk for type 1 diabetes (T1D). IFIH1 binds viral double-stranded RNA (dsRNA), inducing a type I interferon (IFN) response. Reports of this nsSNP's role in IFIH1 expression regulation have produced conflicting results and a study evaluating transfected Thr946Ala protein alleles in an artificial system...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Codon
Share to DEAD-box RNA Helicases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus, Type 1

Share to Interferon-alpha

Share to Interferon-Induced Helicase, IFIH1

Share to Polymorphism, Single Nucleotide

Share to Quantitative Trait Loci

Source

Identifiers

PMID: 24117221
DOI: 10.3109/08916934.2013.832758

Genes

IFIH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus.PMID 24117221Read ↗

Study of transcriptional effects in Cis at the IFIH1 locus.Semantic proximity Read ↗

Reduced expression of IFIH1 is protective for type 1 diabetes.Semantic proximity Read ↗

The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.Semantic proximity Read ↗

The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.Semantic proximity Read ↗

The IFIH1-A946T risk variant promotes diabetes in a sex-dependent mannerSemantic proximity Read ↗

The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations.Semantic proximity Read ↗

IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.Semantic proximity Read ↗

The A946T variant of the RNA sensor IFIH1 mediates an interferon program that limits viral infection but increases the risk for autoimmunity.Semantic proximity Read ↗

Protective <i>IFIH1</i> variant reduces immune-mediated islet stress and dysfunction in a type 1 diabetes genetic backgroundSemantic proximity Read ↗

Effects of type 1 diabetes-associated IFIH1 polymorphisms on MDA5 function and expression.Semantic proximity Read ↗

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.Semantic proximity Read ↗

The association between the IFIH1 locus and type 1 diabetes.Semantic proximity Read ↗

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