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Article

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome.

Nature genetics - 1 Mar 2003

Neptune Enid R, Frischmeyer Pamela A, Arking Dan E, Myers Loretha, Bunton Tracie E, Gayraud Barbara, Ramirez Francesco, Sakai Lynn Y, Dietz Harry C

Abstract excerpt

Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils. A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement, historically described as emphysema, which frequently results in spontaneous lung rupture (pneumothorax; refs. 1-3). To...

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Source

Identifiers

PMID: 12598898
DOI: 10.1038/ng1116

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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