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Article

Positive and negative elements mediate control of alternative splicing in the AMPD1 gene.

Gene - 4 Apr 2000

Morisaki H, Morisaki T, Kariko K, Genetta T, Holmes E W

Abstract excerpt

The second exon of the AMP deaminase (AMPD) 1 gene is alternatively spliced in response to stage-specific signals elaborated during myocyte differentiation. Since inheritance of the mutation in exon 2 of the AMPD1 gene has been recently shown to be associated with a better prognosis of congestive heart failure and the alternative splicing of exon 2 modulates the residual activity of AMPD1 in individuals with this...

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Source

Identifiers

PMID: 10767559
DOI: 10.1016/s0378-1119(00)00078-0

Genes

AMPD1

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.

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Positive and negative elements mediate control of alternative splicing in the AMPD1 gene.PMID 10767559Read ↗

Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect.Semantic proximity Read ↗

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Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production.Semantic proximity Read ↗

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Molecular biology of AMP deaminase deficiency.Semantic proximity Read ↗

AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment.Semantic proximity Read ↗

[Can mutation of the AMPD1 gene encoding human deaminase muscle muscle isozyme AMP be a prognostic marker of primary dilated cardiomyopathy?].Semantic proximity Read ↗

Decreased cardiac activity of AMP deaminase in subjects with the AMPD1 mutation--a potential mechanism of protection in heart failure.Semantic proximity Read ↗

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population.Semantic proximity Read ↗

Alternative splicing of type II procollagen exon 2 is regulated by the combination of a weak 5' splice site and an adjacent intronic stem-loop cis element.Semantic proximity Read ↗

Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure.Semantic proximity Read ↗

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