A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

doi:10.1172/JCI117930

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

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

The Journal of clinical investigation - 1 May 1995

Milewicz D M, Grossfield J, Cao S N, Kielty C, Covitz W, Jewett T

Abstract excerpt

Dermal fibroblasts from a 13-yr-old boy with isolated skeletal features of the Marfan syndrome were used to study fibrillin synthesis and processing. Only one half of the secreted profibrillin was proteolytically processed to fibrillin outside the cell and deposited into the extracellular matrix. Electron microscopic examination of rotary shadowed microfibrils made by the proband's fibroblasts were...

Topics

Adolescent
Adult
Aged
Alleles
Amino Acid Sequence
Base Sequence
Body Height
Cells, Cultured
DNA Primers
Exons
Extracellular Matrix
Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Fibrillin-1

Fibrillins

Fibroblasts

Humans

Male

Source

Open in PubMed Open full text

Identifiers

PMID: 7738200
DOI: 10.1172/JCI117930
PMCID: PMC295860

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7738200-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 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

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.PMID 7738200Read ↗

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.Semantic proximity Read ↗

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

Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory TGFβ-binding siteSemantic proximity Read ↗

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome.Semantic proximity Read ↗

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

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

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

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

The extracellular matrix glycoprotein fibrillin-1 in health and diseaseSemantic proximity Read ↗

Fibrillin protein pleiotropy: Acromelic dysplasias.Semantic proximity Read ↗

Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site.Semantic proximity Read ↗

Marfan syndrome in the third Millennium.Semantic proximity Read ↗

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