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TUBB2B gene

Known as: class IIb beta-tubulin, MGC8685, tubulin beta 2B class IIb 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Clinical Implementation of Targeted Gene Sequencing for Malformation of Cortical Development.
Review
2019
Review
2019
Epilepsy in Tubulinopathy: Personal Series and Literature Review
Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration… 
2018
2018
De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR
Abstract Introduction: A range of cerebrocortical development malformations (MCD) ranging from simplified gyral patterns to the… 
2017
2017
A heterozygous mutation in tubulin, beta 2B ( Tubb2b ) causes cognitive deficits and hippocampal disorganization
Development of the mammalian forebrain requires a significant contribution from tubulin proteins to physically facilitate both… 
2016
2016
DNA Methylation Profiling Reveals Correlation of Differential Methylation Patterns with Gene Expression in Human Epilepsy
DNA methylation plays important roles in regulating gene expression and has been reported to be related with epilepsy. This study… 
2014
2014
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
Dominant mutations in TUBB2B have been reported in patients with polymicrogyria. We further explore the phenotype associated with… 
2013
2013
Complication begets clarification in classification.
  • J. Barkovich
  • Brain : a journal of neurology
  • 2013
  • Corpus ID: 23487866
As recently as 12 years ago, breakthroughs aided by laboratory neuroscience and modern neuroimaging had made differentiation and… 
Highly Cited
2012
Highly Cited
2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Microtubules are essential components of axon guidance machinery. Among β-tubulin mutations, only those in TUBB3 have been shown… 
Highly Cited
2012
Highly Cited
2012
A novel mutation in the β‐tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance
Neurological disorders characterized by abnormal neuronal migration, organization, axon guidance, and maintenance have recently… 
2010
2010
The β‐tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders
Mutations in the β‐tubulin gene TUBB2B result in asymmetrical polymicrogyria 
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