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

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene.

Biochimica et biophysica acta - 1 Jan 2007

Arenas Monica, Duley John, Sumi Satoshi, Sanderson Jeremy, Marinaki Anthony

Abstract excerpt

Inosine triphosphate pyrophosphatase (ITPase) catalyzes the conversion of inosine triphosphate (ITP) to the correspondent monophosphate. The ITPA c.94C>A and g.IVS2+21A>C allelic variants are associated with decreased red cell enzyme activity. The ITPA c.94C>A [P32T] sequence variant is associated with an increased risk of adverse drug reactions in patients treated with the thiopurine drug azathioprine. The aim...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to Cells, Cultured

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

Share to Drug Hypersensitivity

Share to Fibroblasts

Share to Pyrophosphatases

Share to RNA, Messenger

Share to RNA Splicing

Source

Identifiers

PMID: 17113761
DOI: 10.1016/j.bbadis.2006.10.006

Genes

ITPA

Variants

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

The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene.PMID 17113761Read ↗

Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.Semantic proximity Read ↗

A disease spectrum for ITPA variation: advances in biochemical and clinical research.Semantic proximity Read ↗

Measurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population.Semantic proximity Read ↗

Rapid detection of ITPA 94C>A and IVS2 + 21A>C gene mutations by real-time fluorescence PCR and in vitro demonstration of effect of ITPA IVS2 + 21A>C polymorphism on splicing efficiency.Semantic proximity Read ↗

Characterization of the inosine triphosphatase (ITPA) gene: haplotype structure, haplotype-phenotype correlation and promoter function.Semantic proximity Read ↗

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.Semantic proximity Read ↗

Quantitative in vitro and in vivo characterization of the human P32T mutant ITPase.Semantic proximity Read ↗

Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6.Semantic proximity Read ↗

Pharmacogenetic significance of inosine triphosphatase.Semantic proximity Read ↗

Allele frequency of inosine triphosphate pyrophosphatase gene polymorphisms in a Japanese population.Semantic proximity Read ↗

The human ITPA polymorphic variant P32T is destabilized by the unpacking of the hydrophobic core.Semantic proximity Read ↗

Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase).Semantic proximity Read ↗

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