The molecular landscape of ASPM mutations in primary microcephaly.
about
Human ASPM participates in spindle organisation, spindle orientation and cytokinesis.Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumAllelic diversity in human developmental neurogenetics: insights into biology and diseaseMutations in mouse Aspm (abnormal spindle-like microcephaly associated) cause not only microcephaly but also major defects in the germlineMicrocephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression.MCPH1: a window into brain development and evolution.Genetics and biology of microcephaly and lissencephalyPrimary microcephaly: do all roads lead to Rome?A transcription factor map as revealed by a genome-wide gene expression analysis of whole-blood mRNA transcriptome in multiple sclerosis.Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregationMolecular genetics of human primary microcephaly: an overview.Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesMolecular and cellular basis of autosomal recessive primary microcephaly.Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice.A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.Autosomal recessive primary microcephaly due to ASPM mutations: An update.Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain.Exploring the implications of INDELs in neuropsychiatric genetics: challenges and perspectives.Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.Primary microcephaly caused by novel compound heterozygous mutations in ASPM.Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.Genetic causes of MCPH in consanguineous Pakistani families.
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The molecular landscape of ASPM mutations in primary microcephaly.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
The molecular landscape of ASPM mutations in primary microcephaly.
@en
The molecular landscape of ASPM mutations in primary microcephaly.
@nl
type
label
The molecular landscape of ASPM mutations in primary microcephaly.
@en
The molecular landscape of ASPM mutations in primary microcephaly.
@nl
prefLabel
The molecular landscape of ASPM mutations in primary microcephaly.
@en
The molecular landscape of ASPM mutations in primary microcephaly.
@nl
P2093
P2860
P50
P356
P1476
The molecular landscape of ASPM mutations in primary microcephaly.
@en
P2093
A K Nicholas
D Di Benedetto
D Hampshire
E A Swanson
K Springell
P2860
P304
P356
10.1136/JMG.2008.062380
P407
P577
2008-11-21T00:00:00Z