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

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.

Nature genetics - 1 Oct 1997

McGrath J A, McMillan J R, Shemanko C S, Runswick S K, Leigh I M, Lane E B, Garrod D R, Eady R A

Abstract excerpt

Members of the armadillo protein gene family, which includes plakoglobin and beta-catenin, have important functions in cytoskeleton/cell membrane interactions. These proteins may act as linker molecules at adherens junctions and desmosomes at the plasma membrane; in addition, they may have pivota...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Child
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Primers

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 9326952
DOI: 10.1038/ng1097-240

Genes

PKP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9326952-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.PMID 9326952Read ↗

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.Semantic proximity Read ↗

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.Semantic proximity Read ↗

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1Semantic proximity Read ↗

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.Semantic proximity Read ↗

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.Semantic proximity Read ↗

The Desmosomal Plaque Proteins of the Plakophilin FamilySemantic proximity Read ↗

Inherited disorders of desmosomes.Semantic proximity Read ↗

Desmosomal genodermatoses.Semantic proximity Read ↗

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome.Semantic proximity Read ↗

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

Molecular abnormalities of the desmosomal protein desmoplakin in human disease.Semantic proximity Read ↗

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

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