Evidence map›Paper›PMID 28272472›Full record

ArticleScientific reports2017

Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly.

Paraskevi Sgourdou, Ketu Mishra-Gorur, Ichiko Saotome, Octavian Henagariu, Beyhan Tuysuz, Cynthia Campos, Keiko Ishigame, Krinio Giannikou, Jennifer L Quon, Nenad Sestan and 3 more

Abstract read
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed.

  1. Article
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  11. P53 independent pathogenic mechanisms contribute to BubR1 microcephaly.Frontiers in cell and developmental biology · 2023
    Article
  12. Article
  13. Review
  14. Article
  15. Article
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  17. Review
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  20. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain.Frontiers in cell and developmental biology · 2021
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Paraskevi SgourdouDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Ketu Mishra-GorurDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Ichiko SaotomeDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Octavian HenagariuDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Beyhan TuysuzDepartment of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
Cynthia CamposDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Keiko IshigameDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Krinio GiannikouDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Jennifer L QuonDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Nenad SestanDepartments of Neuroscience, Genetics and Psychiatry, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, 06520, USA.
Ahmet O CaglayanDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Murat GunelDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.
Angeliki LouviDepartments of Neurosurgery and Neuroscience, Program on Neurogenetics, Yale School of Medicine, New Haven, CT, 06520, USA.

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0M
Molecular Mechanisms of Primary MicrocephalyR01HD075822 · NICHD · YALE UNIVERSITY · PI LOUVI, ANGELIKI · 2013 to 2017
$1.7M
NCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NICHD NIH HHS R01 HD075822
6 · The paper itself

Abstract

Recessive mutations in WD repeat domain 62 (WDR62) cause microcephaly and a wide spectrum of severe brain malformations. Disruption of the mouse ortholog results in microcephaly underlain by reduced proliferation of neocortical progenitors during late neurogenesis, abnormalities in asymmetric centrosome inheritance leading to neuronal migration delays, and altered neuronal differentiation. Spindle pole localization of WDR62 and mitotic progression are defective in patient-derived fibroblasts, which, similar to mouse neocortical progenitors, transiently arrest at prometaphase. Expression of WDR62 is closely correlated with components of the chromosome passenger complex (CPC), a key regulator of mitosis. Wild type WDR62, but not disease-associated mutant forms, interacts with the CPC core enzyme Aurora kinase B and staining of CPC components at centromeres is altered in patient-derived fibroblasts. Our findings demonstrate critical and diverse functions of WDR62 in neocortical development and provide insight into the mechanisms by which its disruption leads to a plethora of structural abnormalities.

Indexed as

Epistasis, GeneticInheritance PatternsAnimalsAurora Kinase BBrainCell CycleCell Cycle ProteinsCell DifferentiationCell ProliferationCentrosomeConsanguinityDisease Models, AnimalFluorescent Antibody TechniqueGene ExpressionHumansMaleAURKB protein, humanAurora Kinase BCell Cycle ProteinsNerve Tissue ProteinsWDR62 protein, human

Identifiers

PMID28272472
PMCPMC5341122

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.