Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we utilized CRISPR/Cas9 approaches to generate three strains of WDR62 mutant mice; WDR62V66M/V66M and WDR62R439H/R439H mice recapitulate conserved missense mutations found in humans with microcephaly, with the third strain being a null allele (WDR62stop/stop).
|
31816041 |
2020 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, modeling microcephaly with cerebral organoids and mice reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly, disruption of which contributes to microcephaly.
|
31197141 |
2019 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
|
30706430 |
2019 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The loss of WDR62 in human leads to microcephaly and pachygyria.
|
30091641 |
2018 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It has been reported that WDR62 is the second causative gene of autosomal recessive microcephaly (MCPH2) playing a significant role in spindle formation and the proliferation of neuronal progenitor cells.
|
28756000 |
2018 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we identified compound heterozygous mutations c.731 C > T (p.Ser 244 Leu) and c.2413 G > T (p.Glu 805 X) in the WDR62/MCPH2 gene, which encodes the mitotic centrosomal protein WDR62, in two siblings in a Japanese family with microcephaly using whole-exome sequencing.
|
28973348 |
2017 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Glial-Specific Functions of Microcephaly Protein WDR62 and Interaction with the Mitotic Kinase AURKA Are Essential for Drosophila Brain Growth.
|
28625535 |
2017 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in WD repeat domain 62 (WDR62) cause microcephaly and a wide spectrum of severe brain malformations.
|
28272472 |
2017 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Microcephaly 2 (MCPH2) is one of the most frequent subtypes of MCPH.WD repeat-containing protein 62 gene (WDR62) is the most frequently mutated gene in MCPH2 patients.
|
27852057 |
2016 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD.
|
25385192 |
2015 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Microcephaly-associated protein WDR62 regulates neurogenesis through JNK1 in the developing neocortex.
|
24388750 |
2014 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
We propose that a disruption of centrosome integrity and/or spindle organization may play an important role in the development of microcephaly in MCPH2.
|
24228726 |
2013 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
WD40-repeat protein 62 (WDR62) was recently identified as a spindle pole protein linked to the neurodevelopmental defect of microcephaly but its roles in mitosis have not been defined.
|
22899712 |
2012 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
|
20890279 |
2010 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
CTD_human |
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
|
20890279 |
2010 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate the use of whole-exome sequencing to overcome these obstacles by identifying recessive mutations in WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum.
|
20729831 |
2010 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
CTD_human |
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
|
20890278 |
2010 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|