Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
about
Homozygous 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 microcephalyMicrocephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitorsMutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationMutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizuresAutosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumAllelic diversity in human developmental neurogenetics: insights into biology and diseaseThe 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 damageThe Implicitome: A Resource for Rationalizing Gene-Disease AssociationsA 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 duplicationVariants 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 signalingGrowth and folding of the mammalian cerebral cortex: from molecules to malformationsMicrocephaly genes evolved adaptively throughout the evolution of eutherian mammalsPhylogeny and adaptive evolution of the brain-development gene microcephalin (MCPH1) in cetaceansMutations 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 SyndromeMETTL23, a transcriptional partner of GABPA, is essential for human cognition.A novel syndrome of lethal familial hyperekplexia associated with brain malformation.Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.Polymicrogyria: a common and heterogeneous malformation of cortical development.The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndromeMalformations of cortical development: genetic mechanisms and diagnostic approachPRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentSLC25A22 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 segregationMutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephalyPolymicrogyria: pathology, fetal origins and mechanisms.Mutations 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]
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P2860
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
description
2010 nî lūn-bûn
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2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին 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
Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
@ast
Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
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Mutations in WDR62, encoding a ...... abnormal cortical architecture
@en
P2093
A James Barkovich
Brenda J Barry
Christine Sunu
Christopher A Walsh
Jillian M Felie
Laura Flores-Sarnat
Marie T McDonald
Meral Topçu
Rebecca D Folkerth
Sema K Sgaier
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P356
10.1038/NG.683
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P577
2010-11-01T00:00:00Z
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1015377556