Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
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Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansThe human microcephaly protein STIL interacts with CPAP and is required for procentriole formationMutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismCEP152 is a genome maintenance protein disrupted in Seckel syndromeCDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyHuman microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assemblyAutosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumDistinctive phenotype in 9 patients with deletion of chromosome 1q24-q25Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated NeuronsProliferation control in neural stem and progenitor cellsGenetic changes shaping the human brainDiseases associated with defective responses to DNA damageCtIP Mutations Cause Seckel and Jawad SyndromesNew frontiers: discovering cilia-independent functions of cilia proteinsCentriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplicationMCPH1 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 recombinationMicrocephaly genes evolved adaptively throughout the evolution of eutherian mammalsCerebral organoids model human brain development and microcephaly.Potential mechanisms of Zika-linked microcephalyMicrocephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.Asterless is required for centriole length control and sperm developmentPRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMCPH1: a window into brain development and evolution.Opposite chromosome constitutions due to a familial translocation t(1;21)(q43;q22) in 2 cousins with development delay and congenital anomalies: A case report.Deregulation of microcephalin and ASPM expression are correlated with epithelial ovarian cancer progression.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 microcephalyCentrobin-centrosomal protein 4.1-associated protein (CPAP) interaction promotes CPAP localization to the centrioles during centriole duplication.Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease.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.The Stil protein regulates centrosome integrity and mitosis through suppression of Chfr.Primordial dwarfism: overview of clinical and genetic aspects.Functional divergence of the brain-size regulating gene MCPH1 during primate evolution and the origin of humans.Cep63 and cep152 cooperate to ensure centriole duplication
P2860
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P2860
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին 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 centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@ast
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@en
type
label
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@ast
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@en
prefLabel
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@ast
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@en
P2093
P2860
P1476
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
@en
P2093
Aidan Thomas
Andrea L Rideout
Andrew Orr
Christine Macgillivray
David C Meek
Duane L Guernsey
Haiyan Jiang
Ingrid Hoffmann
Jacques L Michaud
P2860
P356
10.1016/J.AJHG.2010.06.003
P407
P577
2010-07-01T00:00:00Z