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Article

Plectin gene defects lead to various forms of epidermolysis bullosa simplex.

Dermatologic clinics - 1 Jan 2010

Rezniczek Günther A, Walko Gernot, Wiche Gerhard

Abstract excerpt

Plectin is an important organizer of the keratin filament cytoskeleton in basal keratinocytes. It is essential for anchoring these filaments to the extracellular matrix via hemidesmosomal integrins. Loss of plectin or incorrect function of the protein due to mutations in its gene can lead to various forms of the skin blistering disease, epidermolysis bullosa simplex. Severity and subtype of the disease is...

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PMID: 19945614
DOI: 10.1016/j.det.2009.10.004

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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.

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Plectin gene defects lead to various forms of epidermolysis bullosa simplex.PMID 19945614Read ↗

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Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of PatientsSemantic proximity Read ↗

Role of plectin in cytoskeleton organization and dynamicsSemantic proximity Read ↗

Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric AtresiaSemantic proximity Read ↗

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).Semantic proximity Read ↗

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplexSemantic proximity Read ↗

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.Semantic proximity Read ↗

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