Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Ehlers-Danlos syndrome type IVTerminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneCerebral cortex expansion and folding: what have we learned?Neurological manifestations of Ehlers-Danlos syndrome(s): A reviewA novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and functionOverlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopiaDistinct regional and subcellular localization of the actin-binding protein filamin A in the mature rat brainValvular dystrophy associated filamin A mutations reveal a new role of its first repeats in small-GTPase regulation.Molecular genetics of neuronal migration disorders.Grb7 and Filamin-a associate and are colocalized to cell membrane ruffles upon EGF stimulation.Periventricular heterotopia in common microdeletion syndromesFilamin A mediated Big2 dependent endocytosis: From apical abscission to periventricular heterotopiaThe genetic basis of aortic aneurysmRare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissectionsGenomic variants and variations in malformations of cortical development.Combined cardiological and neurological abnormalities due to filamin A gene mutation.The dual role of filamin A in cancer: can't live with (too much of) it, can't live without it.Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia.Nodule excitability in an animal model of periventricular nodular heterotopia: c-fos activation in organotypic hippocampal slices.Initiation of epileptiform activity in a rat model of periventricular nodular heterotopiaUnilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome.MEKK4 signaling regulates filamin expression and neuronal migration.Filamin a regulates neural progenitor proliferation and cortical size through Wee1-dependent Cdk1 phosphorylation.Matrix-dependent perturbation of TGFβ signaling and diseasePeriventricular heterotopia: new insights into Ehlers-Danlos syndromeEhlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Complex roles of filamin-A mediated cytoskeleton network in cancer progression.Report from a U.S. conference on essential tremor.Lessons on the pathogenesis of aneurysm from heritable conditionsVascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.Lung disease associated with filamin A gene mutation: a case reportStructure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This StructureFilamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.Molecular mechanisms of thoracic aortic dissection.Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.Cellular and molecular mechanisms of thoracic aortic aneurysms.Genetic factors in non-syndromic congenital heart malformations.Ehlers-Danlos syndrome and neurological features: a review.
P2860
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P2860
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@en
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@nl
type
label
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@en
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@nl
prefLabel
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@en
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@nl
P2093
P1433
P1476
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
@en
P2093
E Andermann
E Berry-Kravis
F Andermann
G M Hutchins
P304
P356
10.1212/01.WNL.0000149512.79621.DF
P407
P577
2005-01-01T00:00:00Z