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 plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

Genes & development - 15 Jul 1996

McLean W H, Pulkkinen L, Smith F J, Rugg E L, Lane E B, Bullrich F, Burgeson R E, Amano S, Hudson D L, Owaribe K, McGrath J A, McMillan J R, Eady R A, Leigh I M, Christiano A M, Uitto J

Abstract excerpt

Plectin is a widely expressed high molecular weight protein that is involved in cytoskeleton-membrane attachment in epithelial cells, muscle, and other tissues. The human autosomal recessive disorder epidermolysis bullosa with muscular dystrophy (MD-EBS) shows epidermal blister formation at the l...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cloning, Molecular

Share to DNA, Complementary

Share to Molecular Sequence Data

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 8698233
DOI: 10.1101/gad.10.14.1724

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8698233-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.PMID 8698233Read ↗

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

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

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

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophySemantic proximity Read ↗

Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24).Semantic proximity Read ↗

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

Role of plectin in cytoskeleton organization and dynamicsSemantic proximity Read ↗

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

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.Semantic proximity Read ↗

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

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

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.Semantic proximity Read ↗

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