Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
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Cerebral cortex expansion and folding: what have we learned?The cytoskeletal arrangements necessary to neurogenesisCellullar insights into cerebral cortical development: focusing on the locomotion mode of neuronal migrationAxonal transport: cargo-specific mechanisms of motility and regulationA developmental and genetic classification for malformations of cortical development: update 2012Genetic 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 knockdownUner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stabilityA tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.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.PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMolecular genetics of neuronal migration disorders.Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts.TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyGenomic variants and variations in malformations of cortical development.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyPhenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.What disorders of cortical development tell us about the cortex: one plus one does not always make twoHypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.Malformations of cortical development: clinical features and genetic causesRole of a novel CAR-induced gene, TUBA8, in hepatocellular carcinoma cell lines.Protein expression profiles characterize distinct features of mouse cerebral cortices at different developmental stages.Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Convert your favorite protein modeling program into a mutation predictor: "MODICT"Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitorsIntegrative mechanisms of oriented neuronal migration in the developing brain.Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
P2860
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P2860
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
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@zh-hant
name
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en-gb
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@nl
type
label
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en-gb
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@nl
prefLabel
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en-gb
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@nl
P2093
P2860
P50
P1476
Mutation of the variant alpha- ...... a with optic nerve hypoplasia.
@en
P2093
Bruce E Hayward
C Geoff Woods
Daniela T Pilz
Eamonn Sheridan
Ewan Morrison
Graham R Taylor
Kelly Springell
Louise Hattingh
Mohammad R Abdollahi
Mushtaq Ahmed
P2860
P304
P356
10.1016/J.AJHG.2009.10.007
P407
P577
2009-11-05T00:00:00Z