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Article

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy.

Experimental dermatology - 1 Oct 1996

Uitto J, Pulkkinen L, Smith F J, McLean W H

Abstract excerpt

Recent progress in understanding the molecular organization of the cutaneous basement membrane zone (BMZ) has revealed an intricate network of structural proteins necessary for stable association of the epidermis to the underlying dermis. Molecular genetics of the cutaneous BMZ has also revealed that defects in as many as nine distinct genes within the dermal-epidermal junction which result in different forms of...

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Identifiers

PMID: 8981021
DOI: 10.1111/j.1600-0625.1996.tb00124.x

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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 and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy.PMID 8981021Read ↗

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Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.Semantic proximity Read ↗

Plectin gene defects lead to various forms of epidermolysis bullosa simplex.Semantic proximity Read ↗

The many faces of plectin and plectinopathies: pathology and mechanisms.Semantic proximity Read ↗

Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.Semantic proximity Read ↗

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.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 ↗

Epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Semantic 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 ↗

Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.Semantic proximity Read ↗

Role of plectin in cytoskeleton organization and dynamicsSemantic proximity Read ↗

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