(Q37304298)

19 August 2017

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly (English)

1 reference

Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

19 August 2017

0 references

corrigendum / erratum

0 references

29

Diana Zelenika

1 reference

19 August 2017

26

Patrick Nitschke

1 reference

19 August 2017

Nadia Bahi-Buisson

34

0 references

Annie Andrieux

Annie Andrieux

30

0 references

Elena Parrini

Elena Parrini

7

0 references

Fiona Francis

Fiona Francis

31

0 references

Elena Fontana

Elena Fontana

13

0 references

Dominique Bonneau

Dominique Bonneau

17

0 references

Didier Lacombe

Didier Lacombe

11

0 references

Karine Poirier

Karine Poirier

1

0 references

Renzo Guerrini

32

Renzo Guerrini

1 reference

19 August 2017

22

Vincent des Portes

1 reference

19 August 2017

Nicolas Lebrun

2

1 reference

19 August 2017

Loic Broix

3

1 reference

19 August 2017

Guoling Tian

4

1 reference

19 August 2017

Yoann Saillour

5

1 reference

19 August 2017

Cécile Boscheron

6

1 reference

19 August 2017

Stephanie Valence

8

1 reference

19 August 2017

Benjamin Saint Pierre

9

1 reference

19 August 2017

Madison Oger

10

1 reference

19 August 2017

David Geneviève

12

1 reference

19 August 2017

Franscesca Darra

14

1 reference

19 August 2017

Claude Cances

15

1 reference

19 August 2017

Magalie Barth

16

1 reference

19 August 2017

Bernardo Dalla Bernadina

18

1 reference

19 August 2017

Sylvie N'guyen

19

1 reference

19 August 2017

Cyril Gitiaux

20

1 reference

19 August 2017

Philippe Parent

21

1 reference

19 August 2017

Jean Michel Pedespan

23

1 reference

19 August 2017

Victoire Legrez

24

1 reference

19 August 2017

Laetitia Castelnau-Ptakine

25

1 reference

19 August 2017

Thierry Hieu

27

1 reference

19 August 2017

Cecile Masson

28

1 reference

19 August 2017

Nicholas J Cowan

33

1 reference

19 August 2017

Jamel Chelly

35

1 reference

19 August 2017

language of work or name

English

0 references

publication date

21 April 2013

1 reference

19 August 2017

1 reference

19 August 2017

45

1 reference

19 August 2017

639-647

1 reference

19 August 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.2613

19 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

De novo mutations in human genetic 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=3826256

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

A developmental and genetic classification for malformations of cortical development: update 2012

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Microtubule nucleation by γ-tubulin complexes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth 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=3826256

Neuronal migration defects in the Loa dynein mutant 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=3826256

A framework for variation discovery and genotyping using next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

What disorders of cortical development tell us about the cortex: one plus one does not always make two

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Lissencephaly: mechanistic insights from animal models and potential therapeutic strategies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Somatic gene mutation and human disease other than cancer: an update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

An atomic-level mechanism for activation of the kinesin molecular motors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Kinesin superfamily motor proteins and intracellular transport

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

The Sequence Alignment/Map format and SAMtools

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Structure and Functional Role of Dynein's Microtubule-Binding Domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

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=3826256

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=3826256

The centrosome in neuronal 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=3826256

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Human disorders of cortical development: from past to present

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

The affinity of the dynein microtubule-binding domain is modulated by the conformation of its coiled-coil stalk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Human non-synonymous SNPs: server and survey

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

KIF5C, a novel neuronal kinesin enriched in motor neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

The gamma-tubulin gene family in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Differences in the gyral pattern distinguish chromosome 17-linked and X-linked 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=3826256

Golgi vesiculation and lysosome dispersion in cells lacking cytoplasmic dynein.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Chaperonin-mediated folding of vertebrate actin-related protein and gamma-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=3826256

Point mutation of adenosine triphosphate-binding motif generated rigor kinesin that selectively blocks anterograde lysosome membrane transport

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Microtubule Assembly in the Absence of Added Nucleotides

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Use of T7 RNA polymerase to direct expression of cloned genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Differential trafficking of Kif5c on tyrosinated and detyrosinated microtubules in live cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Cortical development: view from neurological mutants two decades later

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Numbers, time and neocortical neuronogenesis: a general developmental and evolutionary model

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

A cytoplasmic chaperonin that catalyzes beta-actin folding

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Diagnostic exome sequencing in persons with severe intellectual disability

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

A de novo paradigm for mental retardation.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

A colorimetric assay for the determination of 4-diphosphocytidyl-2-C-methyl-D-erythritol 4-phosphate synthase activity

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Kinesin superfamily protein 2A (KIF2A) functions in suppression of collateral branch extension.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Mutations in dynein link motor neuron degeneration to defects in retrograde transport

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826256

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

2 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2613

Specificity in chaperonin-mediated protein folding

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2613

Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23603762

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2613

1 reference

release_zmr6bud3erdurmkt7g2yv3xope

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zmr6bud3erdurmkt7g2yv3xope

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 August 2017

1 reference