(Q30457417)

15 August 2017

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities (English)

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15 August 2017

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19

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20

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15

Pierre Gressens

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Martin Breuss

Martin Breuss

1

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Julian Ik-Tsen Heng

Julian Ik-Tsen Heng

2

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Nadia Bahi-Buisson

Nadia Bahi-Buisson

11

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Karine Poirier

Karine Poirier

3

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Alain Verloes

14

Alain Verloes

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15 August 2017

David Anthony Keays

23

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Matilda A Haas

Matilda Haas

10

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ORCID Public Data File 2021

author name string

Guoling Tian

4

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15 August 2017

Xavier Hubert Jaglin

5

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15 August 2017

Zhengdong Qu

6

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15 August 2017

Andreas Braun

7

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15 August 2017

Thomas Gstrein

8

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15 August 2017

Linh Ngo

9

1 reference

15 August 2017

Marie-Laure Moutard

12

1 reference

15 August 2017

Yunli Xie

16

1 reference

15 August 2017

Kathryn J H Robson

17

1 reference

15 August 2017

Deepa Selvi Rani

18

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15 August 2017

Nicholas Justin Cowan

22

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15 August 2017

language of work or name

English

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publication date

13 December 2012

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15 August 2017

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2

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6

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15 August 2017

1554-1562

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describes a project that uses

15 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3595605/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Patterns and rates of exonic de novo mutations in autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Proneural transcription factors regulate different steps of cortical neuron migration through Rnd-mediated inhibition of RhoA signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Allelic diversity in human developmental neurogenetics: insights into biology and disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Functional impact of global rare copy number variation in autism spectrum disorders

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Tuba8 is expressed at low levels in the developing mouse and human brain

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

GSK-3 is a master regulator of neural progenitor homeostasis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Neurogenin 2 controls cortical neuron migration through regulation of Rnd2.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

A transgenic mouse class-III beta tubulin reporter using yellow fluorescent protein.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Trekking across the brain: the journey of neuronal migration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Neurogenesis and the Cell Cycle

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Type II chaperonins, prefoldin, and the tubulin-specific chaperones

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Refined structure of alpha beta-tubulin at 3.5 A resolution

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Protein-protein interactions, cytoskeletal regulation and neuronal migration

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Early induction of Talpha1 alpha-tubulin transcription in neurons of the developing nervous system.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

Sonic hedgehog promotes somitic chondrogenesis by altering the cellular response to BMP signaling

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3595605

10.1016/J.CELREP.2012.11.017

20 June 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

23246003

1 reference