Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons (Q26247961)

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19 March 2020

case report

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title

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons (English)

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19 March 2020

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19 March 2020

Vincent El Ghouzzi

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19 March 2020

Ferdinando Di Cunto

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Alexandra Martins

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19 March 2020

Stephanie L. Bielas

14

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3

Séverine Drunat

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Alain Verloes

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19 March 2020

author name string

Amanda Moccia

2

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19 March 2020

Omar Soukarieh

4

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Hélène Tubeuf

5

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Sylvie Joriot

10

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19 March 2020

Brian N Harding

1

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Pierre Gressens

8

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Sandrine Passemard

13

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19 March 2020

language of work or name

English

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publication date

21 July 2016

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American Journal of Human Genetics

19 March 2020

published in

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19 March 2020

volume

99

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19 March 2020

page(s)

511-520

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19 March 2020

issue

2

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Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly

19 March 2020

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1 reference

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WDR62 is associated with the spindle pole and is mutated in human microcephaly

7 April 2017

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

7 April 2017

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

7 April 2017

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Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis

7 April 2017

1 reference

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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

7 April 2017

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Mutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germline

7 April 2017

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7 April 2017

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Lfc and Tctex-1 regulate the genesis of neurons from cortical precursor cells

7 April 2017

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Cytokinesis in Animal Cells

7 April 2017

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A general framework for estimating the relative pathogenicity of human genetic variants

7 April 2017

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Distribution and intensity of constraint in mammalian genomic sequence

7 April 2017

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ASPM is a major determinant of cerebral cortical size

7 April 2017

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Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

7 April 2017

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What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).

28 September 2017

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The genetics of lissencephaly

28 September 2017

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28 September 2017

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Opposing actions of septins and Sticky on Anillin promote the transition from contractile to midbody ring

28 September 2017

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28 September 2017

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28 September 2017

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Cytoskeleton in action: lissencephaly, a neuronal migration disorder

28 September 2017

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Sticky/Citron kinase maintains proper RhoA localization at the cleavage site during cytokinesis.

28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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28 September 2017

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Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

28 September 2017

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28 September 2017

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Citron-kinase, a protein essential to cytokinesis in neuronal progenitors, is deleted in the flathead mutant rat.

28 September 2017

1 reference

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28 September 2017

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31 May 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/27453579

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.07.003

1 reference

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19 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27453579%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference