Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
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Human-specific histone methylation signatures at transcription start sites in prefrontal neuronsHuman TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.TrkC signaling is activated in adenoid cystic carcinoma and requires NT-3 to stimulate invasive behaviorA direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylationIntraflagellar transport delivers tubulin isotypes to sensory cilium middle and distal segmentsKinesin-5, a mitotic microtubule-associated motor protein, modulates neuronal migrationThe cytoskeletal arrangements necessary to neurogenesisGenes and brain malformations associated with abnormal neuron positioningNeurodegeneration and microtubule dynamics: death by a thousand cutsAxonal transport: cargo-specific mechanisms of motility and regulationA developmental and genetic classification for malformations of cortical development: update 2012Mutation of Ser172 in yeast β tubulin induces defects in microtubule dynamics and cell divisionMicrotubules and Lis-1/NudE/dynein regulate invasive cell-on-cell migration in DrosophilaReversal of axonal growth defects in an extraocular fibrosis model by engineering the kinesin-microtubule interface.Exploring the Origin of Differential Binding Affinities of Human Tubulin Isotypes αβII, αβIII and αβIV for DAMA-Colchicine Using Homology Modelling, Molecular Docking and Molecular Dynamics SimulationsTemplate-free 13-protofilament microtubule–MAP assembly visualized at 8 Å resolutionGenetic Basis of Brain MalformationsMutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsBeta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownDynamic FoxG1 expression coordinates the integration of multipolar pyramidal neuron precursors into the cortical plateG protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and laminationA glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-AMasculinisation of the zebra finch song system: roles of oestradiol and the Z-chromosome gene tubulin-specific chaperone protein ASexually dimorphic and developmentally regulated expression of tubulin-specific chaperone protein A in the LMAN of zebra finchesUner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.Establishing a novel knock-in mouse line for studying neuronal cytoplasmic dynein under normal and pathologic conditionsMutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.Defective adult oligodendrocyte and Schwann cell development, pigment pattern, and craniofacial morphology in puma mutant zebrafish having an alpha tubulin mutation.Microtubule-based localization of a synaptic calcium-signaling complex is required for left-right neuronal asymmetry in C. elegans.Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance.A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.The genetics of lissencephaly.Polymicrogyria: a common and heterogeneous malformation of cortical development.SMIFH2 has effects on Formins and p53 that perturb the cell cytoskeletonPRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentCurrent concepts of polymicrogyria.
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P2860
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
description
2009 nî lūn-bûn
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2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@ast
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en-gb
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@nl
type
label
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@ast
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en-gb
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@nl
prefLabel
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@ast
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en-gb
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@nl
P2093
P2860
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P3181
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P1476
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
@en
P2093
Carlos Cardoso
Catherine Fallet-Bianco
Emmanuelle Buhler
Françoise Phan-Dinh-Tuy
Ghislaine Plessis
Guoling Tian
Irina Snoeck
Laëtitia Castelnau-Ptakhine
Manoelle Kossorotoff
Nicholas Justin Cowan
P2860
P2888
P304
P3181
P356
10.1038/NG.380
P407
P50
P577
2009-06-01T00:00:00Z
P5875
P6179
1042950355