Increased LIS1 expression affects human and mouse brain development - Wikidata - thesis-toulmin - TriplyDB

Increased LIS1 expression affects human and mouse brain development

Increased LIS1 expression affects human and mouse brain development

http://www.wikidata.org/entity/Q30639738

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Similarities and differences in structure, expression, and functions of VLDLR and ApoER2 Mechanisms of change in gene copy number Ndel1 palmitoylation: a new mean to regulate cytoplasmic dynein activity.CNV and nervous system diseases--what's new?Mechanisms underlying structural variant formation in genomic disorders Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome Foxp1 and lhx1 coordinate motor neuron migration with axon trajectory choice by gating Reelin signalling Updated neuronal scaling rules for the brains of Glires (rodents/lagomorphs)Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Inhibition of calpain increases LIS1 expression and partially rescues in vivo phenotypes in a mouse model of lissencephaly Lis1 is an initiation factor for dynein-driven organelle transport.A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.miR-139-5p modulates cortical neuronal migration by targeting Lis1 in a rat model of focal cortical dysplasia Rare copy number deletions predict individual variation in intelligence The exon junction complex component Magoh controls brain size by regulating neural stem cell division.Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.Copy number variation in human health, disease, and evolution.CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Copy number variation in Han Chinese individuals with autism spectrum disorder.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements Microtubule dynamics in neuronal morphogenesis.Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Phenotypic manifestations of copy number variation in chromosome 16p13.11.Analysis of epigenetic factors in mouse embryonic neural stem cells exposed to hyperglycemia Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.Polarity transitions during neurogenesis and germinal zone exit in the developing central nervous system.Rare copy number deletions predict individual variation in human brain metabolite concentrations in individuals with alcohol use disorders.Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex.Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).A Cdk5-dependent switch regulates Lis1/Ndel1/dynein-driven organelle transport in adult axons.Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44 The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.Complex human chromosomal and genomic rearrangements.Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.Mechanisms for recurrent and complex human genomic rearrangements.

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Increased LIS1 expression affects human and mouse brain development

http://www.wikidata.org/entity/Q30639738

description

2009 nî lūn-bûn

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2009 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2009 թվականի հունվարին հրատարակված գիտական հոդված

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2009年の論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年論文

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2009年论文

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Increased LIS1 expression affects human and mouse brain development

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Increased LIS1 expression affects human and mouse brain development

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Increased LIS1 expression affects human and mouse brain development

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Increased LIS1 expression affects human and mouse brain development

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Nature Genetics

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Increased LIS1 expression affects human and mouse brain development

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Arthur L Beaudet

http://www.w3.org/2001/XMLSchema#string

Daniel A Peiffer

http://www.w3.org/2001/XMLSchema#string

David J Harris

http://www.w3.org/2001/XMLSchema#string

Debra-Lynn Day-Salvatore

http://www.w3.org/2001/XMLSchema#string

James R Lupski

http://www.w3.org/2001/XMLSchema#string

Jill V Hunter

http://www.w3.org/2001/XMLSchema#string

Kevin L Gunderson

http://www.w3.org/2001/XMLSchema#string

Marjan M Nezarati

http://www.w3.org/2001/XMLSchema#string

Marjorie A Withers

http://www.w3.org/2001/XMLSchema#string

Michele Horner

http://www.w3.org/2001/XMLSchema#string

P2860

Rare chromosomal deletions and duplications increase risk of schizophrenia

LIS1, CLIP-170's key to the dynein/dynactin pathway.

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.

Strong association of de novo copy number mutations with autism

Large recurrent microdeletions associated with schizophrenia

The structural basis for red fluorescence in the tetrameric GFP homolog DsRed

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

Interaction of reelin signaling and Lis1 in brain development

Activation of a Dab1/CrkL/C3G/Rap1 pathway in Reelin-stimulated neurons

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168-177

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scholarly article

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10.1038/NG.302

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2

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41

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23771199

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19136950

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4396744

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