Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans (Q41923165)

14 October 2017

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans (English)

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14 October 2017

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6

Fowzan S Alkuraya

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14 October 2017

1

Ranad Shaheen

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14 October 2017

Amal Hashem

2

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14 October 2017

Ghada M H Abdel-Salam

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3

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14 October 2017

Fatima Al-Fadhli

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4

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14 October 2017

Nour Ewida

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5

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14 October 2017

8 August 2016

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14 October 2017

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14 October 2017

135

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10

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14 October 2017

1191-1197

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https://scigraph.springernature.com/pub.10.1007/s00439-016-1722-2

14 October 2017

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cites work

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Novel CENPJ mutation causes Seckel syndrome

21 January 2018

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21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Primordial dwarfism: an update

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Discovery of mutations for Mendelian disorders

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

A developmental and genetic classification for malformations of cortical development

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron kinase controls a molecular network required for midbody formation in cytokinesis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron-N is a neuronal Rho-associated protein involved in Golgi organization through actin cytoskeleton regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

A gene essential to brain growth and development maps to the distal arm of rat chromosome 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Mutations in sticky lead to defective organization of the contractile ring during cytokinesis and are enhanced by Rho and suppressed by Rac

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron rho-interacting kinase, a novel tissue-specific ser/thr kinase encompassing the Rho-Rac-binding protein Citron

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Kif14 mutation causes severe brain malformation and hypomyelination

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Negative control of keratinocyte differentiation by Rho/CRIK signaling coupled with up-regulation of KyoT1/2 (FHL1) expression

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

KIF14 and citron kinase act together to promote efficient cytokinesis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

The human brain in numbers: a linearly scaled-up primate brain

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

A novel partner for the GTP-bound forms of rho and rac

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Role of citron kinase as a target of the small GTPase Rho in cytokinesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron, a Rho target that affects contractility during cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Regulation of myosin II during cytokinesis in higher eukaryotes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Drosophila citron kinase is required for the final steps of cytokinesis.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Cortical neurons arise in symmetric and asymmetric division zones and migrate through specific phases

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

ASPM and citron kinase co-localize to the midbody ring during cytokinesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Specification of cerebral cortical areas

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Myosin II-dependent cortical movement is required for centrosome separation and positioning during mitotic spindle assembly

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Altered interneuron development in the cerebral cortex of the flathead mutant

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Humans and great apes share a large frontal cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Genomic analysis of primordial dwarfism reveals novel disease genes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron kinase is an essential effector of the Pbl-activated Rho signalling pathway in Drosophila melanogaster.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

A primary microcephaly protein complex forms a ring around parental centrioles.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Molecular dissection of cytokinesis by RNA interference in Drosophila cultured cells

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Drosophila sticky/citron kinase is a regulator of cell-cycle progression, genetically interacts with Argonaute 1 and modulates epigenetic gene silencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Primary microcephaly: do all roads lead to Rome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron kinase, a Rho-dependent kinase, induces di-phosphorylation of regulatory light chain of myosin II

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1722-2

Citron, a Rho-target, interacts with PSD-95/SAP-90 at glutamatergic synapses in the thalamus

21 January 2018

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12 December 2020

The flathead mutation causes CNS-specific developmental abnormalities and apoptosis.

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12 December 2020

Citron binds to PSD-95 at glutamatergic synapses on inhibitory neurons in the hippocampus

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12 December 2020

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

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12 December 2020

Rho-dependent transfer of Citron-kinase to the cleavage furrow of dividing cells

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12 December 2020

10.1007/S00439-016-1722-2

Identifiers

DOI

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Dimensions Publication ID

14 October 2017

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