Recurrent KIF2A mutations are responsible for classic lissencephaly (Q41922143)

14 October 2017

title

Recurrent KIF2A mutations are responsible for classic lissencephaly (English)

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14 October 2017

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Christine Bôle-Feysot

12

object named as

Christine Bole-Feysot

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Nadia Bahi-Buisson

object named as

Nadia Bahi-Buisson

15

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Julie Steffann

object named as

Julie Steffann

14

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author name string

Mara Cavallin

1

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14 October 2017

Emilia K Bijlsma

2

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14 October 2017

Adrienne El Morjani

3

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14 October 2017

Sébastien Moutton

4

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14 October 2017

Els A J Peeters

5

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14 October 2017

Camille Maillard

6

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14 October 2017

Jean Michel Pedespan

7

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14 October 2017

Anne-Marie Guerrot

8

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14 October 2017

Valérie Drouin-Garaud

9

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14 October 2017

Christine Coubes

10

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David Genevieve

11

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Cecile Fourrage

13

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publication date

17 October 2016

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14 October 2017

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14 October 2017

volume

18

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14 October 2017

issue

2

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14 October 2017

page(s)

73-79

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

14 October 2017

cites work

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https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Lissencephaly and the molecular basis of neuronal migration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Malformations of cortical development: clinical features and genetic causes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Somatic mutations in cerebral cortical malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Disorders of Microtubule Function in Neurons: Imaging Correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

KIF2 is a new microtubule-based anterograde motor that transports membranous organelles distinct from those carried by kinesin heavy chain or KIF3A/B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Kin I kinesins are microtubule-destabilizing enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Aurora B phosphorylates centromeric MCAK and regulates its localization and microtubule depolymerization activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Differentiation of cytoplasmic and meiotic spindle assembly MCAK functions by Aurora B-dependent phosphorylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-016-0499-8

Identification and partial characterization of mitotic centromere-associated kinesin, a kinesin-related protein that associates with centromeres during mitosis

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27747449

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-016-0499-8

1 reference

14 October 2017

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