Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

doi:10.1006/geno.1993.1349

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

Back to search

Article

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.

Genomics - 1 Aug 1993

Dietz H C, McIntosh I, Sakai L Y, Corson G M, Chalberg S C, Pyeritz R E, Francomano C A

Abstract excerpt

Defects of fibrillin (FBN1), a glycoprotein component of the extracellular microfibril, cause Marfan syndrome. This disorder is characterized by marked inter- and intrafamilial variation in phenotypic severity. To understand the molecular basis for this clinical observation, we have screened the...

Topics

Alleles
Amino Acid Sequence
Base Sequence
Binding Sites
Calcium
Chromosomes, Human, Pair 15
DNA
Epidermal Growth Factor
Female
Fibrillin-1
Fibrillins
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Macromolecular Substances

Male

Marfan Syndrome

Microfilament Proteins

Models, Structural

Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 8406497
DOI: 10.1006/geno.1993.1349

Genes

EGF
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8406497-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.PMID 8406497Read ↗

Multi-exon deletions of the FBN1gene in Marfan syndromeSemantic proximity Read ↗

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.Semantic proximity Read ↗

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndromeSemantic proximity Read ↗

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.Semantic proximity Read ↗

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.Semantic proximity Read ↗

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.Semantic proximity Read ↗

The molecular genetics of Marfan syndrome and related microfibrillopathies.Semantic proximity Read ↗

Fibrillln mutations in Marfan syndrome and related phenotypes.Semantic proximity Read ↗

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.Semantic proximity Read ↗

Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1.Semantic proximity Read ↗

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.Semantic proximity Read ↗

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.Semantic proximity Read ↗

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