Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. - Test2 - elhamkhani - TriplyDB

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

http://www.wikidata.org/entity/Q34767093

about

Mechanisms of change in gene copy number CNV and nervous system diseases--what's new?Mechanisms underlying structural variant formation in genomic disorders MECP2 disorders: from the clinic to mice and back Major influence of repetitive elements on disease-associated copy number variants (CNVs)Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome Segmental duplications arise from Pol32-dependent repair of broken forks through two alternative replication-based mechanisms.A microhomology-mediated break-induced replication model for the origin of human copy number variation.Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci Analysis of copy number variations among diverse cattle breeds.Copy number variation in human health, disease, and evolution.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.On the spot: very local chromosomal rearrangements.SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.Complex human chromosomal and genomic rearrangements.Altered neuronal network and rescue in a human MECP2 duplication model.MECP2 duplication syndrome in a Chinese family.MECP2 Duplication Syndrome Rapid Functional and Sequence Differentiation of a Tandemly Repeated Species-Specific Multigene Family in Drosophila.NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.Mechanisms for human genomic rearrangements Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.Distal Xq duplication and functional Xq disomy.Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.Replicative mechanisms for CNV formation are error prone.Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.Implications of gene copy-number variation in health and diseases.

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P2860

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

http://www.wikidata.org/entity/Q34767093

description

2008 nî lūn-bûn

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2008 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2008 թվականի ապրիլին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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name

Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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type

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Nonrecurrent MECP2 duplication ...... ak-induced replication repair.

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Genome Research

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Nonrecurrent MECP2 duplication ...... eak-induced replication repair

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Angela M Vianna-Morgante

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Charles E Schwartz

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Florence Niel

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Guy Froyen

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Hilde Van Esch

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Jaakko Ignatius

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Karen Govaerts

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Karen Hollanders

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Kris Vandenreijt

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P2860

Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Break-induced replication: a review and an example in budding yeast

Break-induced replication and recombinational telomere elongation in yeast

Emerin deletions occurring on both Xq28 inversion backgrounds

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

Interspersed repeats and other mementos of transposable elements in mammalian genomes

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

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847-858

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10.1101/GR.075903.107

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6

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18

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Carla Rosenberg

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2008-04-02T00:00:00Z

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5467947

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18385275

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2413152

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