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Article

Effect of nonsense mutations on PTEN mRNA stability.

Human genetics - 1 Jul 2000

Raizis A M, Ferguson M M, George P M

Abstract excerpt

Cowden disease is an autosomal dominant disorder associated with an elevated risk of breast, thyroid and skin cancers, in which germline mutations of a tumour suppressor gene (PTEN) have been identified. PTEN has a dual-specificity tyrosine phosphatase domain thought to be essential for tumour suppression. Previous genotype/phenotype correlations have identified several potential associations, for example that...

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Source

Identifiers

PMID: 10982030
DOI: 10.1007/s004390000317

Genes

PTEN

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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

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Click a neighbor to travelStep 1 · 12 closest

Effect of nonsense mutations on PTEN mRNA stability.PMID 10982030Read ↗

Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer.Semantic proximity Read ↗

Germline mutations in the breast cancer susceptibility gene PTEN are rare in high-risk non-BRCA1/2 French Canadian breast cancer families.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.Semantic proximity Read ↗

Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.Semantic proximity Read ↗

Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.Semantic proximity Read ↗

Evaluation of germline PTEN mutations in endometrial cancer patients.Semantic proximity Read ↗

Sensitivity of detection of heterozygous point mutations in p53 cDNAs by direct PCR sequencing.Semantic proximity Read ↗

Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.Semantic proximity Read ↗

Analysis of PTEN gene mutations in a Turkish patient with Cowden syndrome.Semantic proximity Read ↗

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.Semantic proximity Read ↗

Polymorphisms in PTEN in breast cancer families.Semantic proximity Read ↗

Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.Semantic proximity Read ↗

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