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

Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.

Biochemical and biophysical research communications - 25 Apr 2003

Minamisawa Susumu, Sato Yoji, Tatsuguchi Yuriko, Fujino Tomofumi, Imamura Shin-ichiro, Uetsuka Yoshio, Nakazawa Makoto, Matsuoka Rumiko

Abstract excerpt

Phospholamban is an endogenous inhibitor of sarcoplasmic reticulum calcium ATPase and plays a prime role in cardiac contractility and relaxation. Phospholamban may be a candidate gene responsible for cardiomyopathy. We investigated genome sequence of phospholamban in patients with cardiomyopathy. PCR-based direct sequence was performed for the promoter region and the whole coding region of phospholamban in 87...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic

Share to Genetic Predisposition to Disease

Share to Mutation

Share to Promoter Regions, Genetic

Share to Transcriptional Activation

Source

Identifiers

PMID: 12705874
DOI: 10.1016/s0006-291x(03)00526-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.PMID 12705874Read ↗

Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation.Semantic proximity Read ↗

Genetic landscape of phospholamban cardiomyopathiesSemantic proximity Read ↗

Molecular Characterization of Phospholamban and Reninangiotensin System Genes Mutations and Clinical Epidemiology in Human CardiomyopathySemantic proximity Read ↗

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.Semantic proximity Read ↗

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population.Semantic proximity Read ↗

Prevalence and cardiac phenotype of patients with a phospholamban mutationSemantic proximity Read ↗

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.Semantic proximity Read ↗

[Association between mutation of phospholamban gene and dilated cardiomyopathy].Semantic proximity Read ↗

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.Semantic proximity Read ↗

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.Semantic proximity Read ↗

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.Semantic proximity Read ↗

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.Semantic proximity Read ↗

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