WDR62 is associated with the spindle pole and is mutated in human microcephaly
about
NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processingHomozygous loss of DIAPH1 is a novel cause of microcephaly in humansCDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyAutosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumMutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated NeuronsSevere NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stagesThe genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locusCerebral cortex expansion and folding: what have we learned?Proliferation control in neural stem and progenitor cellsGenetic changes shaping the human brainA developmental and genetic classification for malformations of cortical development: update 2012Diseases associated with defective responses to DNA damageA CEP215-HSET complex links centrosomes with spindle poles and drives centrosome clustering in cancerCentriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplicationA Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium InterfaceVariants in CUL4B are associated with cerebral malformationsMCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathwayASPM regulates Wnt signaling pathway activity in the developing brainVIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signalingCEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombinationGrowth and folding of the mammalian cerebral cortex: from molecules to malformationsMicrocephaly genes evolved adaptively throughout the evolution of eutherian mammalsMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromePotential mechanisms of Zika-linked microcephalyMicrocephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeMCPH1: a window into brain development and evolution.Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression.SLC25A22 is a novel gene for migrating partial seizures in infancy.Neuronal Polarity in the Embryonic Mammalian Cerebral Cortex.Glial-Specific Functions of Microcephaly Protein WDR62 and Interaction with the Mitotic Kinase AURKA Are Essential for Drosophila Brain Growth.Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregationSmall organelle, big responsibility: the role of centrosomes in development and disease.Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephalyMutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells.A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
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P2860
WDR62 is associated with the spindle pole and is mutated in human microcephaly
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@ast
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en-gb
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@nl
type
label
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@ast
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en-gb
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@nl
prefLabel
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@ast
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en-gb
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
WDR62 is associated with the spindle pole and is mutated in human microcephaly
@en
P2093
Adeline K Nicholas
C Geoffrey Woods
Emma Roberts
Gemma Thornton
James J Cox
Jean-Paul Misson
Marc Abramowicz
Maryam Khurshid
Muhammad Ansar
Rizwana Kausar
P2860
P2888
P304
P3181
P356
10.1038/NG.682
P407
P577
2010-10-03T00:00:00Z
P5875
P6179
1000245678