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

Mitral valve disease in Marfan syndrome and related disorders.

Journal of cardiovascular translational research - 1 Dec 2011

Judge Daniel P, Rouf Rosanne, Habashi Jennifer, Dietz Harry C

Abstract excerpt

Marfan syndrome (MFS) is a systemic disorder of the connective tissue with pleiotropic manifestations due to heterozygous FBN1 mutations and consequent upregulation of TGFβ signaling in affected tissues. Myxomatous thickening and elongation of the mitral valve (MV) leaflets commonly occur in this condition. Investigation of murine models of this disease has led to improved understanding of the mechanisms that...

Read the complete abstract on PubMed

Topics

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

Share to Fibrillin-1
Share to Fibrillins
Share to Heart Valve Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Loeys-Dietz Syndrome

Share to Marfan Syndrome

Share to Mitral Valve

Share to Receptor, Angiotensin, Type 2

Share to Receptors, Transforming Growth Factor beta

Source

Identifiers

PMID: 21866385
DOI: 10.1007/s12265-011-9314-y

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitral valve disease in Marfan syndrome and related disorders.PMID 21866385Read ↗

TGF-β–dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndromeSemantic proximity Read ↗

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome.Semantic proximity Read ↗

The molecular genetics of Marfan syndrome and related disordersSemantic proximity Read ↗

Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys–Dietz SyndromesSemantic proximity Read ↗

The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Semantic proximity Read ↗

Recent progress towards a molecular understanding of Marfan syndrome.Semantic proximity Read ↗

The Role of Transforming Growth Factor-β Signaling in Myxomatous Mitral Valve DegenerationSemantic proximity Read ↗

Marfan syndrome; A connective tissue disease at the crossroads of mechanotransduction, TGFβ signaling and cell stemness.Semantic proximity Read ↗

The Molecular Genetics of Marfan Syndrome.Semantic proximity Read ↗

Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypesSemantic proximity Read ↗

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.Semantic proximity Read ↗

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