Mechanisms for recurrent and complex human genomic rearrangements. - Wikidata - wikimedia - TriplyDB

Mechanisms for recurrent and complex human genomic rearrangements.

Mechanisms for recurrent and complex human genomic rearrangements.

http://www.wikidata.org/entity/Q36044446

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Mechanisms of gene duplication and amplification Cytogenomic Aberrations in Congenital Cardiovascular Malformations Mechanisms underlying structural variant formation in genomic disorders Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements Somatic mosaicism in the human genome Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements Replication protein A prevents promiscuous annealing between short sequence homologies: Implications for genome integrity Chromothripsis from DNA damage in micronuclei.Structure of a filament of stacked octamers of human DMC1 recombinase Structural variation mutagenesis of the human genome: Impact on disease and evolution.Noncanonical views of homology-directed DNA repair RAD51 mutants cause replication defects and chromosomal instability Polymerase δ replicates both strands after homologous recombination-dependent fork restart Characterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing data PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations Genomic basis of aromatase excess syndrome: recombination- and replication-mediated rearrangements leading to CYP19A1 overexpression A fine-scale dissection of the DNA double-strand break repair machinery and its implications for breast cancer therapy.A common copy-number breakpoint of ERBB2 amplification in breast cancer colocalizes with a complex block of segmental duplications.GAP-Seq: a method for identification of DNA palindromes.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.Coherent somatic mutation in autoimmune disease.CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.The chromatin assembly factor 1 promotes Rad51-dependent template switches at replication forks by counteracting D-loop disassembly by the RecQ-type helicase Rqh1 De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.Human genetics. Hidden features of human hotspots.Recovery of arrested replication forks by homologous recombination is error-prone.Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.Pseudoautosomal region 1 length polymorphism in the human population Error-Prone Repair of DNA Double-Strand Breaks.On the spot: very local chromosomal rearrangements.Single-stranded annealing induced by re-initiation of replication origins provides a novel and efficient mechanism for generating copy number expansion via non-allelic homologous recombination.Amplicon rearrangements during the extrachromosomal and intrachromosomal amplification process in a glioma Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.Genome aberrations in canine mammary carcinomas and their detection in cell-free plasma DNA.Large transcription units unify copy number variants and common fragile sites arising under replication stress RPA antagonizes microhomology-mediated repair of DNA double-strand breaks.

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Mechanisms for recurrent and complex human genomic rearrangements.

http://www.wikidata.org/entity/Q36044446

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Mechanisms for recurrent and complex human genomic rearrangements.

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Mechanisms for recurrent and complex human genomic rearrangements.

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Mechanisms for recurrent and complex human genomic rearrangements.

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Mechanisms for recurrent and complex human genomic rearrangements.

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Mechanisms for recurrent and complex human genomic rearrangements.

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Mechanisms for recurrent and complex human genomic rearrangements.

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J.GDE.2012.02.012

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Current Opinion in Genetics & Development

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Mechanisms for recurrent and complex human genomic rearrangements.

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Claudia M B Carvalho

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James R Lupski

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P J Hastings

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Pengfei Liu

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P2860

DPY19L2 deletion as a major cause of globozoospermia

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

Mapping copy number variation by population-scale genome sequencing

The genomic complexity of primary human prostate cancer

Massive genomic rearrangement acquired in a single catastrophic event during cancer development

Complex landscapes of somatic rearrangement in human breast cancer genomes.

Prdm9 controls activation of mammalian recombination hotspots

Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing

Global variation in copy number in the human genome

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10.1016/J.GDE.2012.02.012

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