Molecular and cellular basis of autosomal recessive primary microcephaly.
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Current Evidence for Developmental, Structural, and Functional Brain Defects following Prenatal Radiation ExposureZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53Akirin2 is essential for the formation of the cerebral cortexPotential mechanisms of Zika-linked microcephalyHow does Zika virus cause microcephaly?The doublesex-related Dmrta2 safeguards neural progenitor maintenance involving transcriptional regulation of Hes1Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesDe novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresMutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.Dual Blades: The Role of Musashi 1 in Zika Replication and Microcephaly.Postembryonic Fish Brain Proliferation Zones Exhibit Neuroepithelial-Type Gene Expression Profile.Regulation of centriolar satellite integrity and its physiologyMicroduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Mapping neurogenesis onset in the optic tectum of Xenopus laevis.Generation of iPSC-derived Human Brain Organoids to Model Early Neurodevelopmental Disorders.Cep78 controls centrosome homeostasis by inhibiting EDD-DYRK2-DDB1VprBP.Tight Coupling of Astrocyte pH Dynamics to Epileptiform Activity Revealed by Genetically Encoded pH SensorsCMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.Citron Kinase Deficiency Leads to Chromosomal Instability and TP53-Sensitive Microcephaly."D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly".Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.Chromosome structure deficiencies in MCPH1 syndrome.MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis.The Zebrafish curly fry Is Required for Proper Centrosome and Mitotic Spindle Assembly.Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.PPP1R35 is a novel centrosomal protein that regulates centriole length in concert with the microcephaly protein RTTN
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P2860
Molecular and cellular basis of autosomal recessive primary microcephaly.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Molecular and cellular basis of autosomal recessive primary microcephaly.
@en
type
label
Molecular and cellular basis of autosomal recessive primary microcephaly.
@en
prefLabel
Molecular and cellular basis of autosomal recessive primary microcephaly.
@en
P2860
P921
P356
P1476
Molecular and cellular basis of autosomal recessive primary microcephaly.
@en
P2093
Marine Barbelanne
P2860
P304
P356
10.1155/2014/547986
P407
P577
2014-12-08T00:00:00Z