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

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

1 Feb 2006

Abstract excerpt

BACKGROUND: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell membrane. Desmoplakin (DSP) is the most abundant desmosomal protein with 2 isoforms produced by alternative splicing. METHODS: We describe a patient with a recessively inherited arrhythmogenic dilated cardiomyopathy with left and right ventricular involvement,...

Read the complete abstract on PubMed

Topics

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

Share to Cardiovascular Effects of Exercise
Share to Cellular transport and secretion
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16467215
DOI: 10.1136/jmg.2005.032904

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromePMID 16467215Read ↗

Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotypeSemantic proximity Read ↗

Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.Semantic proximity Read ↗

Desmoplakin and clinical manifestations of desmoplakin cardiomyopathySemantic proximity Read ↗

Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.Semantic proximity Read ↗

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.Semantic proximity Read ↗

Desmoplakin Cardiomyopathy: Comprehensive Review of an Increasingly Recognized EntitySemantic proximity Read ↗

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.Semantic proximity Read ↗

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in DesmoplakinSemantic proximity Read ↗

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.Semantic proximity Read ↗

Left-dominant arrhythmogenic cardiomyopathy due to desmoplakin mutation: a case report.Semantic proximity Read ↗

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.Semantic proximity Read ↗

Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation.Semantic proximity Read ↗

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