The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
about
Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore functionRefinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3The cyclin E/Cdk2 substrate and Cajal body component p220(NPAT) activates histone transcription through a novel LisH-like domainGenes and brain malformations associated with abnormal neuron positioning14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndromeGenetic malformations of the cerebral cortex and epilepsyIncreased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndromeNeuronal migration, cerebral cortical development, and cerebral cortical anomalies.The genetics of lissencephaly.Neuronal migration disorders, genetics, and epileptogenesis.Neuronal Polarity in the Embryonic Mammalian Cerebral Cortex.TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopiaEpilepsy and genetic malformations of the cerebral cortex.Genotypically defined lissencephalies show distinct pathologies.Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyMiller-Dieker syndrome: analysis of a human contiguous gene syndrome in the mouse.Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered.Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders.Interaction between LIS1 and PDE4, and its role in cytoplasmic dynein functionVisual Impairment Due to Lissencephaly.LIS1 missense mutations: variable phenotypes result from unpredictable alterations in biochemical and cellular properties.Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans.Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.Lissencephaly: Expanded imaging and clinical classification.A novel recurrent LIS1 splice site mutation in classic lissencephaly.A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.Malformations of cortical development
P2860
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P2860
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
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2000 nî lūn-bûn
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2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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name
The location and type of mutat ...... rmalities within the LIS1 gene
@ast
The location and type of mutat ...... rmalities within the LIS1 gene
@en
The location and type of mutat ...... rmalities within the LIS1 gene
@nl
type
label
The location and type of mutat ...... rmalities within the LIS1 gene
@ast
The location and type of mutat ...... rmalities within the LIS1 gene
@en
The location and type of mutat ...... rmalities within the LIS1 gene
@nl
prefLabel
The location and type of mutat ...... rmalities within the LIS1 gene
@ast
The location and type of mutat ...... rmalities within the LIS1 gene
@en
The location and type of mutat ...... rmalities within the LIS1 gene
@nl
P2093
P356
P1476
The location and type of mutat ...... rmalities within the LIS1 gene
@en
P2093
D H Ledbetter
L L Dudlicek
M B Ramocki
N Matsumoto
R J Leventer
P304
P356
10.1093/HMG/9.20.3019
P407
P577
2000-12-12T00:00:00Z