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

10 September 2017

title

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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13

Marc Abramowicz

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10 September 2017

Anne Genin

1

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10 September 2017

Nelle Lambert

3

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10 September 2017

Martine Biervliet

4

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10 September 2017

Nathalie Van Der Aa

5

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10 September 2017

Genevieve Pierquin

6

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Audrey Killian

7

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Mario Tosi

8

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Montse Urbina

9

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10 September 2017

Anne Lefort

10

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10 September 2017

Frederick Libert

11

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10 September 2017

publication date

13 September 2012

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10 September 2017

published in

Human Molecular Genetics

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10 September 2017

volume

21

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10 September 2017

issue

24

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10 September 2017

page(s)

5306-5317

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

10 September 2017

cites work

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ASPM is a major determinant of cerebral cortical size

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

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

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

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

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

21 January 2018

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

21 January 2018

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Microcephalin encodes a centrosomal protein.

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Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells

21 January 2018

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

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BRIT1/MCPH1 links chromatin remodelling to DNA damage response.

21 January 2018

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

21 January 2018

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

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Potential Novel Mechanism for Axenfeld-Rieger Syndrome: Deletion of a Distant Region Containing Regulatory Elements ofPITX2

21 January 2018

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Ultraconserved Elements in the Human Genome

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Spatio-temporal transcriptome of the human brain

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

21 January 2018

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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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