Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations (Q89872418)

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9 April 2020

title

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations (English)

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9 April 2020

main subject

thoracic aortic aneurysm

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6

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9 April 2020

author name string

Ming Hui Chen

1

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9 April 2020

Sangita Choudhury

2

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9 April 2020

Mami Hirata

3

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9 April 2020

Siri Khalsa

4

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9 April 2020

Bernard Chang

5

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publication date

1 February 2018

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American Journal of Medical Genetics

9 April 2020

published in

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9 April 2020

volume

176

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issue

2

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9 April 2020

page(s)

337-350

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Filamin, a new high-molecular-weight protein found in smooth muscle and non-muscle cells

9 April 2020

cites work

1 reference

12 December 2020

Surgical correction of aneurysm of the sinus of Valsalva. A report of forty-five consecutive patients including eight with total replacement of the aortic valve

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12 December 2020

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

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Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

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12 December 2020

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

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12 December 2020

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact

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12 December 2020

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

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12 December 2020

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

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12 December 2020

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

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12 December 2020

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

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12 December 2020

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

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Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

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Aneurysms of the sinuses of Valsalva

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12 December 2020

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

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Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

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Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis

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12 December 2020

Filamins in cardiovascular development

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Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction

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Filamin A mutation, a common cause for periventricular heterotopia, aneurysms and cardiac defects

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12 December 2020

Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

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12 December 2020

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations

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12 December 2020

Recommendations for quantification methods during the performance of a pediatric echocardiogram: a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council

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Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

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12 December 2020

Combined cardiological and neurological abnormalities due to filamin A gene mutation

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12 December 2020

Diffuse Abnormal Layering of Small Intestinal Smooth Muscle is Present in Patients With FLNA Mutations and X-linked Intestinal Pseudo-obstruction

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12 December 2020

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

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12 December 2020

Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

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12 December 2020

The filamins: organizers of cell structure and function

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12 December 2020

The clinical spectrum of nodular heterotopias in children: report of 31 patients

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12 December 2020

Mechanical strain in actin networks regulates FilGAP and integrin binding to filamin A.

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12 December 2020

Filamins in mechanosensing and signaling

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12 December 2020

Developmental basis for filamin-A-associated myxomatous mitral valve disease

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12 December 2020

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

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12 December 2020

The use of Z-scores in paediatric cardiology.

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12 December 2020

Novel no-stop FLNA mutation causes multi-organ involvement in males

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12 December 2020

Arterial tortuosity in patients withFilamin A- associated vascular aneurysms

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12 December 2020

The genetic basis of aortic aneurysm

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12 December 2020

Atenolol versus losartan in children and young adults with Marfan's syndrome

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12 December 2020

A randomized, double blind pilot study to assess the effects of losartan vs. atenolol on the biophysical properties of the aorta in patients with Marfan and Loeys-Dietz syndromes.

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12 December 2020

Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome

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12 December 2020

Multimodality imaging of diseases of the thoracic aorta in adults: from the American Society of Echocardiography and the European Association of Cardiovascular Imaging: endorsed by the Society of Cardiovascular Computed Tomography and Society for Ca

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12 December 2020

Sinus of valsalva aneurysms: review of the literature and an update on management

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12 December 2020

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations

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12 December 2020

Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure

1 reference

12 December 2020

Heterogeneity in the Segmental Development of the Aortic Tree: Impact on Management of Genetically Triggered Aortic Aneurysms

1 reference

12 December 2020

Smooth muscle filamin A is a major determinant of conduit artery structure and function at the adult stage

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12 December 2020

Hereditary Influence in Thoracic Aortic Aneurysm and Dissection

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12 December 2020

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.38580

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29334594%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

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