(Q37417883)

20 August 2017

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia (English)

1 reference

polymicrogyria with optic nerve hypoplasia

20 August 2017

0 references

0 references

16

David T Bonthron

0 references

Eamonn Sheridan

17

Eamonn Sheridan

0 references

Ian M. Carr

6

Ian M Carr

0 references

Yanick J. Crow

Yanick Crow

14

0 references

Zoltán Molnár

Zoltan Molnar

4

0 references

Daniela T Pilz

12

Daniela T Pilz

1 reference

20 August 2017

13

Neil Stoodley

1 reference

20 August 2017

Mohammad R Abdollahi

1

1 reference

20 August 2017

Ewan Morrison

2

1 reference

20 August 2017

Tamara Sirey

3

1 reference

20 August 2017

Bruce E Hayward

5

1 reference

20 August 2017

Kelly Springell

7

1 reference

20 August 2017

C Geoff Woods

8

1 reference

20 August 2017

Mushtaq Ahmed

9

1 reference

20 August 2017

Louise Hattingh

10

1 reference

20 August 2017

Peter Corry

11

1 reference

20 August 2017

Graham R Taylor

15

1 reference

20 August 2017

Eamonn Sheridan

17

1 reference

20 August 2017

language of work or name

English

0 references

publication date

5 November 2009

1 reference

American Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

85

1 reference

20 August 2017

5

1 reference

20 August 2017

737-744

1 reference

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Tubulin modifications and their cellular functions.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Detailed analysis of 22q11.2 with a high density MLPA probe set

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Tubulin tyrosination is a major factor affecting the recruitment of CAP-Gly proteins at microtubule plus ends.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Adenomatous polyposis coli localization is both cell type and cell context dependent

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Cell and molecular mechanisms involved in the migration of cortical interneurons.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

SRPX2 mutations in disorders of language cortex and cognition

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Dystroglycan: from biosynthesis to pathogenesis of human disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

A developmental and genetic classification for malformations of cortical development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

A vital role of tubulin-tyrosine-ligase for neuronal organization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Patterns of neuronal migration in the embryonic cortex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

G protein-coupled receptor-dependent development of human frontal cortex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Suppression of nuclear oscillations in Saccharomyces cerevisiae expressing Glu tubulin.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Cell migration in the forebrain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

TUBA8: A new tissue-specific isoform of alpha-tubulin that is highly conserved in human and mouse

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

Dynamic pattern of mRNA expression of plasticity-related gene-3 (PRG-3) in the mouse cerebral cortex during development

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775839

10.1016/J.AJHG.2009.10.007

2 September 2018

Identifiers

DOI

1 reference

release_qswr42lxzrbmdj2qymltexm34m

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/qswr42lxzrbmdj2qymltexm34m

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

20 August 2017

PubMed publication ID

19896110

1 reference