Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
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X-linked disorders with cerebellar dysgenesisThe small GTPase RalA targets filamin to induce filopodiaA meckelin-filamin A interaction mediates ciliogenesisRefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape.Structure of three tandem filamin domains reveals auto-inhibition of ligand bindingRegulation of the Forkhead transcription factor AFX by Ral-dependent phosphorylation of threonines 447 and 451Evolutionarily conserved human targets of adenosine to inosine RNA editingSeizures and X-linked intellectual disabilityDopamine D2 and D3 receptors are linked to the actin cytoskeleton via interaction with filamin ATerminal osseous dysplasia is caused by a single recurrent mutation in the FLNA geneAllelic diversity in human developmental neurogenetics: insights into biology and diseaseDe novo mutations in epileptic encephalopathiesDifferent splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunitsThe integrin-actin connection, an eternal love affairCerebral cortex expansion and folding: what have we learned?Dopamine and Somatostatin Analogues Resistance of Pituitary Tumors: Focus on Cytoskeleton InvolvementMolecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical DevelopmentGenes and brain malformations associated with abnormal neuron positioningCellullar insights into cerebral cortical development: focusing on the locomotion mode of neuronal migrationExtra-cell cycle regulatory functions of cyclin-dependent kinases (CDK) and CDK inhibitor proteins contribute to brain development and neurological disordersFilamin and phospholipase C-ε are required for calcium signaling in the Caenorhabditis elegans spermathecaFilamins regulate cell spreading and initiation of cell migrationCrystal structure of the dimerization domain of human filamin AMolecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A MutationsSkeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disordersThe Many Faces of Elongator in Neurodevelopment and DiseaseGenetic Basis of Brain MalformationsA novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and functionIncreased filamin binding to beta-integrin cytoplasmic domains inhibits cell migrationGenetic malformations of the cerebral cortex and epilepsyDistinct regional and subcellular localization of the actin-binding protein filamin A in the mature rat brainA glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-APeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneMutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical developmentStructural abnormalities develop in the brain after ablation of the gene encoding nonmuscle myosin II-B heavy chainFilamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesisGlobularity and language-readiness: generating new predictions by expanding the set of genes of interestDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeFLN-1/filamin is required for maintenance of actin and exit of fertilized oocytes from the spermatheca in C. elegansFilamin structure, function and mechanics: are altered filamin-mediated force responses associated with human disease?
P2860
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P2860
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh
1998年學術文章
@zh-hant
name
Mutations in filamin 1 prevent ...... n periventricular heterotopia.
@en
Mutations in filamin 1 prevent ...... n periventricular heterotopia.
@nl
type
label
Mutations in filamin 1 prevent ...... n periventricular heterotopia.
@en
Mutations in filamin 1 prevent ...... n periventricular heterotopia.
@nl
prefLabel
Mutations in filamin 1 prevent ...... n periventricular heterotopia.
@en
Mutations in filamin 1 prevent ...... n periventricular heterotopia.
@nl
P2093
P50
P1433
P1476
Mutations in filamin 1 prevent ...... an periventricular heterotopia
@en
P2093
B A Hirsch
D A Graham
E D Lamperti
P R Huttenlocher
R A Radtke
Y Z Ekşioğlu
P304
P356
10.1016/S0896-6273(00)80651-0
P407
P577
1998-12-01T00:00:00Z