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Article

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.

The Journal of investigative dermatology - 1 Jun 2010

Cabral Rita M, Liu Lu, Hogan Carol, Dopping-Hepenstal Patricia J C, Winik Beatriz C, Asial Raúl A, Dobson Richard, Mein Charles A, Baselaga Patricia A, Mellerio Jemima E, Nanda Arti, Boente Maria del Carmen, Kelsell David P, McGrath John A, South Andrew P

Abstract excerpt

Desmosomes are intercellular adhesive junctions and attachment sites for the intermediate filament (IF) cytoskeleton, prominent in tissues subject to high levels of mechanical stress such as the epidermis and heart. The obligate desmosomal constituent, plakoglobin (PG), is involved in coupling tr...

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Source

Identifiers

PMID: 20130592
DOI: 10.1038/jid.2010.7

Genes

JUP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20130592-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.PMID 20130592Read ↗

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.Semantic proximity Read ↗

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entitySemantic proximity Read ↗

Generation of a CRISPR/Cas9-edited Plakoglobin (JUP) knock-out (JMUi001-A-4) iPSC line to model the cardiac phenotype of arrhythmogenic cardiomyopathy.Semantic proximity Read ↗

Lack of Plakoglobin in Epidermis Leads to KeratodermaSemantic proximity Read ↗

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathySemantic proximity Read ↗

Desmosomal genodermatoses.Semantic proximity Read ↗

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.Semantic proximity Read ↗

Cardiac Tissue-Restricted Deletion of Plakoglobin Results in Progressive Cardiomyopathy and Activation of β-Catenin SignalingSemantic proximity Read ↗

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.Semantic proximity Read ↗

Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities.Semantic proximity Read ↗

Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense MutationsSemantic proximity Read ↗

The Desmosomal Plaque Proteins of the Plakophilin FamilySemantic proximity Read ↗

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