Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
about
Understanding the impact of 1q21.1 copy number variantMechanisms underlying structural variant formation in genomic disordersThe impact of human copy number variation on gene expressionA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menStructural variation mutagenesis of the human genome: Impact on disease and evolution.Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith-Magenis and Potocki-Lupski SyndromesEnriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits.Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data.Chromosome anomalies in bone marrow as primary cause of aplastic or hypoplastic conditions and peripheral cytopenia: disorders due to secondary impairment of RUNX1 and MPL genesRai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic BehaviorMirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.Overview of mouse models of autism spectrum disordersPhenotypic impact of genomic structural variation: insights from and for human disease.Copy number variation modifies expression time coursesDeciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Structural variation-associated expression changes are paralleled by chromatin architecture modifications.Dosage-dependent phenotypes in models of 16p11.2 lesions found in autismQuantitative analysis of chromatin interaction changes upon a 4.3 Mb deletion at mouse 4E2A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 PathologyNon-coding genetic variants in human disease.Diversity and regulatory impact of copy number variation in the primate Macaca fascicularisNonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainMitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.Genetic architecture of reciprocal CNVs.The impact of chromosomal rearrangements on regulation of gene expression.Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.A functional role for structural variation in metabolism.A role of genomic copy number variation in the complex behavioral phenotype of alcohol dependence: a commentary.Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.Copy number variation and susceptibility to complex traits.RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.
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P2860
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
description
2010 nî lūn-bûn
@nan
2010 թուականին հրատարակուած գիտական յօդուած
@hyw
2010 թվականին հրատարակված գիտական հոդված
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2010年の論文
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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
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name
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@ast
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@en
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@nl
type
label
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@ast
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@en
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@nl
prefLabel
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@ast
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@en
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@nl
P2093
P2860
P50
P3181
P1433
P1476
Phenotypic consequences of cop ...... i-Lupski syndrome mouse models
@en
P2093
Frédéric Schütz
Guénola Ricard
James R Lupski
Jessica Molina
Juan I Young
Nele Gheldof
Sylvain Pradervand
P2860
P304
P3181
P356
10.1371/JOURNAL.PBIO.1000543
P407
P577
2010-01-01T00:00:00Z