An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
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Neurodegeneration and microtubule dynamics: death by a thousand cutsStructure of a kinesin-tubulin complex and implications for kinesin motilityBeta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownThe genetic basis of incomitant strabismus: consolidation of the current knowledge of the genetic foundations of diseaseA 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.Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.The tubulin code: molecular components, readout mechanisms, and functionsMutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyGenotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorderHard to swallow: Developmental biological insights into pediatric dysphagia.Complication begets clarification in classification.eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testingMaternal germline mosaicism of kinesin family member 21A (KIF21A) mutation causes complex phenotypes in a Chinese family with congenital fibrosis of the extraocular muscles.Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.The wide spectrum of tubulinopathies: what are the key features for the diagnosis?Microtubule dynamics in axon guidance.Microtubule-Targeting Agents Enter the Central Nervous System (CNS): Double-edged Swords for Treating CNS Injury and Disease.The congenital cranial dysinnervation disorders.The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.Ocular Motor Nerve Development in the Presence and Absence of Extraocular Muscle.APC is an RNA-binding protein, and its interactome provides a link to neural development and microtubule assembly.Congenital cranial dysinnervation disorders.Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons.Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy.Structure-function analysis of yeast tubulin.Regulation of microtubule motors by tubulin isotypes and post-translational modifications.Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.Polymicrogyria with dysmorphic basal ganglia? Think tubulin!Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization.Express: A database of transcriptome profiles encompassing known and novel transcripts across multiple development stages in eye tissues.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
P2860
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P2860
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@ast
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@en
type
label
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@ast
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@en
prefLabel
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@ast
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@en
P2093
P2860
P50
P921
P356
P1476
An inherited TUBB2B mutation a ...... CFEOM and axon dysinnervation.
@en
P2093
Anna Luchniak
Caroline Andrews
Elizabeth C Engle
Lavier Gomes
Manoj P Menezes
Maree Flaherty
Max A Tischfield
Maya Peeva
Mohan L Gupta
Patricia Ellen Grant
P2860
P304
P356
10.1093/HMG/DDS393
P577
2012-09-21T00:00:00Z