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Article

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).

The Journal of biological chemistry - 8 Jan 1999

Zhang M C, He L, Giro M, Yong S L, Tiller G E, Davidson J M

Abstract excerpt

Congenital cutis laxa, a rare syndrome with marked skin laxity and pulmonary and cardiovascular compromise, is due to defective elastic fiber formation. In several cases, skin fibroblast tropoelastin production is markedly reduced yet reversed in vitro by transforming growth factor-beta treatment. We previously showed that this reversal was due to elastin mRNA stabilization in one cell strain, and here this...

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Source

Identifiers

PMID: 9873040
DOI: 10.1074/jbc.274.2.981

Genes

ELN

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN).PMID 9873040Read ↗

Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.Semantic proximity Read ↗

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxaSemantic proximity Read ↗

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.Semantic proximity Read ↗

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.Semantic proximity Read ↗

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.Semantic proximity Read ↗

The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin geneSemantic proximity Read ↗

A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa.Semantic proximity Read ↗

Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin.Semantic proximity Read ↗

Domains in tropoelastin that mediate elastin deposition in vitro and in vivo.Semantic proximity Read ↗

Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.Semantic proximity Read ↗

Polymorphisms in the human tropoelastin gene modify in vitro self-assembly and mechanical properties of elastin-like polypeptides.Semantic proximity Read ↗

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxaSemantic proximity Read ↗

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