Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

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47 patients with FLNA associated periventricular nodular heterotopia Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A.FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature

P2860

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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

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2015年の論文

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2015年論文

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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

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type

Item

label

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

@en

prefLabel

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

@en

P1476

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

@en

P2093

Ananda Anandan

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Bruce Castle

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Daniela T Pilz

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Emma Kivuva

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Fiona Stewart

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John Tolmie

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Margriet van Kogelenberg

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Tessa Homfray

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Tim Morgan

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Tracy Dudding

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P2860

FilGAP, a Rho- and ROCK-regulated GAP for Rac binds filamin A to control actin remodelling

RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape.

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

Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

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

Filamins regulate cell spreading and initiation of cell migration

Crystal structure of the alpha-actinin rod reveals an extensive torsional twist

Crystal structure of the dimerization domain of human filamin A

Molecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A Mutations

The repeating segments of the F-actin cross-linking gelation factor (ABP-120) have an immunoglobulin-like fold

P2888

s00109-015-1261-7

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773-782

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scholarly article

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10.1007/S00109-015-1261-7

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P478

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Stephen Robertson

Gregory M Sawyer

Alice R Clark

Andrew J Sutherland-Smith

Matthew Edwards

Michael T Gabbett

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2015-02-18T00:00:00Z

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272519771

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25686753

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Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

about

P2860

P2860

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

description

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type

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prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

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P1476

P2093

P2860

P2888

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P356

P433

P478

P50

P577

P5875

P698