Kinetochore KMN network gene CASC5 mutated in primary microcephaly (Q39277531)

10 September 2017

Kinetochore KMN network gene CASC5 mutated in primary microcephaly (English)

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10 September 2017

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12

Isabelle Pirson

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10 September 2017

2

Julie Desir

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10 September 2017

13

Marc Abramowicz

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10 September 2017

Anne Genin

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10 September 2017

Nelle Lambert

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10 September 2017

Martine Biervliet

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10 September 2017

Nathalie Van Der Aa

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10 September 2017

Genevieve Pierquin

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10 September 2017

Audrey Killian

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10 September 2017

Mario Tosi

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10 September 2017

Montse Urbina

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10 September 2017

Anne Lefort

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10 September 2017

Frederick Libert

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10 September 2017

13 September 2012

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10 September 2017

Human Molecular Genetics

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10 September 2017

21

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10 September 2017

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10 September 2017

5306-5317

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

10 September 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

ASPM is a major determinant of cerebral cortical size

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Identification of microcephalin, a protein implicated in determining the size of the human brain

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

The abnormal spindle-like, microcephaly-associated (ASPM) gene encodes a centrosomal protein

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Microcephalin encodes a centrosomal protein.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Ultraconserved Elements in the Human Genome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

KNL1 and the CENP-H/I/K complex coordinately direct kinetochore assembly in vertebrates

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Regulated targeting of protein phosphatase 1 to the outer kinetochore by KNL1 opposes Aurora B kinase

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Aurora B phosphorylates spatially distinct targets to differentially regulate the kinetochore-microtubule interface

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Phosphodependent recruitment of Bub1 and Bub3 to Spc7/KNL1 by Mph1 kinase maintains the spindle checkpoint.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Spatio-temporal transcriptome of the human brain

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Identification of novel phosphorylation modification sites in human proteins that originated after the human-chimpanzee divergence.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

The MIS12 complex is a protein interaction hub for outer kinetochore assembly

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Structure of a Blinkin-BUBR1 Complex Reveals an Interaction Crucial for Kinetochore-Mitotic Checkpoint Regulation via an Unanticipated Binding Site

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Structural analysis reveals features of the spindle checkpoint kinase Bub1-kinetochore subunit Knl1 interaction

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

An intrinsic mechanism of corticogenesis from embryonic stem cells

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

HomozygosityMapper--an interactive approach to homozygosity mapping

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Accelerated evolution of nervous system genes in the origin of Homo sapiens

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS386

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS386

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10 September 2017

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