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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...

Topics

Alleles
Base Sequence
Cells, Cultured
Drug Hypersensitivity
Fibroblasts
Genetic Variation
Humans
Molecular Sequence Data
Pyrophosphatases
RNA Splicing
RNA, Messenger

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

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

Genes

ITPA

Variants

Provenance

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

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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 ↗

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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 ↗

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