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

Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?

Diabetes - 1 Jan 2006

Královicová Jana, Gaunt Tom R, Rodriguez Santiago, Wood Peter J, Day Ian N M, Vorechovsky Igor

Abstract excerpt

Predisposition to type 1 diabetes and juvenile obesity is influenced by the susceptibility locus IDDM2 that includes the insulin gene (INS). Although the risk conferred by IDDM2 has been attributed to a minisatellite upstream of INS, intragenic variants have not been ruled out. We examined whether INS polymorphisms affect pre-mRNA splicing and proinsulin secretion using minigene reporter assays. We show that...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Cell Line

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

Share to Diabetes Mellitus, Type 1

Share to INS gene

Share to Insulin

Share to Polymorphism, Single Nucleotide

Share to Proinsulin

Share to RNA, Messenger

Source

Identifiers

PMID: 16380501
DOI: 10.2337/diabetes.55.01.06.db05-0773

Genes

INS

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

Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?PMID 16380501Read ↗

Allele-specific recognition of the 3' splice site of INS intron 1.Semantic proximity Read ↗

Two insulin gene single nucleotide polymorphisms associated with type 1 diabetes risk in the Finnish and Swedish populations.Semantic proximity Read ↗

The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcriptionSemantic proximity Read ↗

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin geneSemantic proximity Read ↗

A new hypothesis for type 1 diabetes risk: The at-risk allele at rs3842753 associates with increased beta cell <i>INS</i> mRNA in a meta-analysis of single cell RNA sequencing dataSemantic proximity Read ↗

Human type 1 diabetes and the insulin gene: principles of mapping polygenes.Semantic proximity Read ↗

Class III alleles of the variable number of tandem repeat insulin polymorphism associated with silencing of thymic insulin predispose to type 1 diabetes.Semantic proximity Read ↗

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis.Semantic proximity Read ↗

The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes.Semantic proximity Read ↗

Effect of polymorphism in the insulin gene region on IDDM susceptibility and insulin secretion. The Childhood Diabetes in Finland (DiMe) Study Group.Semantic proximity Read ↗

A New Hypothesis for Type 1 Diabetes Risk: The At-Risk Allele at rs3842753 Associates With Increased Beta-Cell INS Messenger RNA in a Meta-Analysis of Single-Cell RNA-Sequencing Data.Semantic proximity Read ↗

Evaluation of polymorphic splicing in the mechanism of the association of the insulin gene with diabetes.Semantic proximity Read ↗

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