CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly (Q24315121)

GOA release 2020-03-11

1 reference

20

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Gudrun Nürnberg

6

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Bernd Wollnik

18

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Janine Altmüller

13

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Gökhan Yigit

17

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Muhammad Sajid Hussain

Muhammad S Hussain

1

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Peter Frommolt

Peter Frommolt

14

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Shahid M Baig

2

Shahid M Baig

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Holger Thiele

15

Holger Thiele

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Janine Altmüller

1 reference

ORCID Public Data File 2021

author name string

Sascha Neumann

3

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Vivek S Peche

4

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Sandra Szczepanski

5

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Muhammad Tariq

7

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Muhammad Jameel

8

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Tahir N Khan

9

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Ambrin Fatima

10

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Naveed A Malik

11

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Ilyas Ahmad

12

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Wolfgang Höhne

16

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Bernd A Neubauer

19

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Angelika A Noegel

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

21

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language of work or name

English

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publication date

20 December 2013

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published in

Human Molecular Genetics

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volume

22

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page(s)

5199-214

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issue

25

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cites work

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Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

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

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Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

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The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

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

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Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

21 January 2018

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A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

21 January 2018

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

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

21 January 2018

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Kinetochore KMN network gene CASC5 mutated in primary microcephaly

21 January 2018

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Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

21 January 2018

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ASPM is a major determinant of cerebral cortical size

21 January 2018

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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

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 truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

21 January 2018

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

21 January 2018

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Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

21 January 2018

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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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Primary microcephaly: do all roads lead to Rome?

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Many roads lead to primary autosomal recessive microcephaly

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Symmetric versus asymmetric cell division during neurogenesis in the developing vertebrate central nervous system

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Centrioles, centrosomes, and cilia in health and disease

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

21 January 2018

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Identification of G1 kinase activity for cdk6, a novel cyclin D partner

21 January 2018

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Mammalian cells cycle without the D-type cyclin-dependent kinases Cdk4 and Cdk6

21 January 2018

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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

21 January 2018

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Active cdk6 complexes are predominantly nuclear and represent only a minority of the cdk6 in T cells

21 January 2018

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Distinct subcellular distribution of cyclin dependent kinase 6.

21 January 2018

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The p16(INK4a) tumour suppressor protein inhibits alphavbeta3 integrin-mediated cell spreading on vitronectin by blocking PKC-dependent localization of alphavbeta3 to focal contacts

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Development of the cerebral cortex in rodents and man.

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Development of the human cerebral cortex: Boulder Committee revisited

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Live imaging at the onset of cortical neurogenesis reveals differential appearance of the neuronal phenotype in apical versus basal progenitor progeny

21 January 2018

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Distinct behaviors of neural stem and progenitor cells underlie cortical neurogenesis

21 January 2018

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A cell cycle-regulated inhibitor of cyclin-dependent kinases

21 January 2018

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The subcellular locations of p15(Ink4b) and p27(Kip1) coordinate their inhibitory interactions with cdk4 and cdk2

21 January 2018

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cdk6 can shorten G(1) phase dependent upon the N-terminal INK4 interaction domain

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

From cell cycle to differentiation: an expanding role for cdk6.

21 January 2018

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Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

MCPH1/BRIT1 limits ionizing radiation-induced centrosome amplification.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT374

CDK5RAP2 regulates centriole engagement and cohesion in mice

21 January 2018

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Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

21 January 2018

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Centrosome biogenesis and function: centrosomics brings new understanding

21 January 2018

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Centrosomes and cilia in human disease.

21 January 2018

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"It takes two to tango": understanding how centrosome duplication is regulated throughout the cell cycle

21 January 2018

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Cyclin E-Cdk2 temporally regulates centrosome assembly and establishment of polarity in Caenorhabditis elegans embryos

21 January 2018

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Active cyclin B1-Cdk1 first appears on centrosomes in prophase

21 January 2018

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Mitotic kinases as regulators of cell division and its checkpoints

21 January 2018

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Centrosome duplication in mammalian somatic cells requires E2F and Cdk2-cyclin A.

21 January 2018

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Selective cortical interneuron and GABA deficits in cyclin D2-null mice.

21 January 2018

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Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex

21 January 2018

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The critical role of cyclin D2 in adult neurogenesis

21 January 2018

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Cdk6-dependent regulation of G(1) length controls adult neurogenesis

21 January 2018

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Neuronal apoptosis at the G1/S cell cycle checkpoint

21 January 2018

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Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

21 January 2018

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Short hairpin RNAs (shRNAs) induce sequence-specific silencing in mammalian cells

21 January 2018

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Nuclear localization of Annexin A7 during murine brain development

21 January 2018

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Rat monoclonal antitubulin antibodies derived by using a new nonsecreting rat cell line

21 January 2018

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Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

A common mechanism for microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT374