Discover Community Create You

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

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

Circulation - 2 Jan 2007

Kyndt Florence, Gueffet Jean-Pierre, Probst Vincent, Jaafar Philippe, Legendre Antoine, Le Bouffant Françoise, Toquet Claire, Roy Estelle, McGregor Lesley, Lynch Sally Ann, Newbury-Ecob Ruth, Tran Vinh, Young Ian, Trochu Jean-Noel, Le Marec Hervé, Schott Jean-Jacques

Abstract excerpt

BACKGROUND: Myxomatous dystrophy of the cardiac valves affects approximately 3% of the population and remains one of the most common indications for valvular surgery. Familial inheritance has been demonstrated with autosomal and X-linked transmission, but no specific molecular abnormalities have...

Read the complete abstract on PubMed

Topics

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

Share to Contractile Proteins
Share to Filamins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Genetic Linkage

Share to Heart Valve Diseases

Share to Microfilament Proteins

Share to Muscular Dystrophies

Share to Mutation, Missense

Source

Identifiers

PMID: 17190868
DOI: 10.1161/CIRCULATIONAHA.106.622621

Genes

FLNA
MVD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17190868-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.PMID 17190868Read ↗

Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.Semantic proximity Read ↗

Familial cardiac valvulopathy due to filamin A mutation.Semantic proximity Read ↗

Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve diseaseSemantic proximity Read ↗

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.Semantic proximity Read ↗

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.Semantic proximity Read ↗

Expression of the familial cardiac valvular dystrophy gene, filamin‐A, during heart morphogenesisSemantic proximity Read ↗

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.Semantic proximity Read ↗

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.Semantic proximity Read ↗

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.Semantic proximity Read ↗

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.Semantic proximity Read ↗

Genetics of syndromic and non-syndromic mitral valve prolapse.Semantic proximity Read ↗

Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy.Semantic proximity Read ↗

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