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 non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

Journal of cell science - 1 Apr 1994

Chan Y M, Yu Q C, LeBlanc-Straceski J, Christiano A, Pulkkinen L, Kucherlapati R S, Uitto J, Fuchs E

Abstract excerpt

Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10 nm filaments, have provided the foundation that has led to the discoveries of the genetic bases of two major classes of human skin diseases,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Base Sequence

Share to Cells, Cultured

Share to Chromosome Mapping

Share to DNA Mutational Analysis

Share to Molecular Sequence Data

Share to Pedigree

Source

Identifiers

PMID: 7520042
DOI: 10.1242/jcs.107.4.765

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.PMID 7520042Read ↗

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.Semantic proximity Read ↗

Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.Semantic proximity Read ↗

A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.Semantic proximity Read ↗

Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.Semantic proximity Read ↗

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.Semantic proximity Read ↗

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.Semantic proximity Read ↗

Defining the properties of the nonhelical tail domain in type II keratin 5: insight from a bullous disease-causing mutation.Semantic proximity Read ↗

Diseases of epidermal keratins and their linker proteins.Semantic proximity Read ↗

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.Semantic proximity Read ↗

K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).Semantic proximity Read ↗

A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.Semantic proximity Read ↗

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