A microhomology-mediated break-induced replication model for the origin of human copy number variation. - Wikidata - awgldk - TriplyDB

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

http://www.wikidata.org/entity/Q33404060

about

A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway Mechanisms of gene duplication and amplification Mechanisms of change in gene copy number Crystal structures of DNA-Whirly complexes and their role in Arabidopsis organelle genome repair Mechanisms underlying structural variant formation in genomic disorders Genetic Susceptibility to Rhodococcus equi Biologic and clinical significance of androgen receptor variants in castration resistant prostate cancer Rescuing stalled or damaged replication forks Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives MAPK pathway activation in pilocytic astrocytoma CNVs: harbingers of a rare variant revolution in psychiatric genetics Generation of tandem direct duplications by reversed-ends transposition of maize ac elements A conserved lysine residue of plant Whirly proteins is necessary for higher order protein assembly and protection against DNA damage Structural variation mutagenesis of the human genome: Impact on disease and evolution.Differences in the DNA replication of unicellular eukaryotes and metazoans: known unknowns Break-induced replication requires all essential DNA replication factors except those specific for pre-RC assembly.A mechanism of gene amplification driven by small DNA fragments.Migrating bubble during break-induced replication drives conservative DNA synthesis.Replication fork instability and the consequences of fork collisions from rereplication Noncanonical views of homology-directed DNA repair RAD51 mutants cause replication defects and chromosomal instability GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects Frequent Somatic Mutation in Adult Intestinal Stem Cells Drives Neoplasia and Genetic Mosaicism during Aging Intrachromosomal amplification, locus deletion and point mutation in the aquaglyceroporin AQP1 gene in antimony resistant Leishmania (Viannia) guyanensis Interaction-based evolution: how natural selection and nonrandom mutation work together Landscape of somatic retrotransposition in human cancers AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Mechanisms for Structural Variation in the Human Genome A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.Characterizing complex structural variation in germline and somatic genomes Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome Short template switch events explain mutation clusters in the human genome.Mechanisms of chromosomal rearrangement in the human genome

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A microhomology-mediated break-induced replication model for the origin of human copy number variation.

http://www.wikidata.org/entity/Q33404060

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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A microhomology-mediated break ...... f human copy number variation.

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A microhomology-mediated break ...... f human copy number variation.

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A microhomology-mediated break ...... f human copy number variation.

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A microhomology-mediated break ...... f human copy number variation.

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A microhomology-mediated break ...... f human copy number variation.

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A microhomology-mediated break ...... f human copy number variation.

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A microhomology-mediated break ...... f human copy number variation.

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Grzegorz Ira

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James R Lupski

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P J Hastings

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Creative Commons Attribution 4.0 International

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Gene duplication: the genomic trade in spare parts

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

Fine-scale structural variation of the human genome

Paired-end mapping reveals extensive structural variation in the human genome

Global variation in copy number in the human genome

Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution

Gene copy number variation spanning 60 million years of human and primate evolution

Uniparental disomy as a mechanism for human genetic disease

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

Adaptive amplification and point mutation are independent mechanisms: evidence for various stress-inducible mutation mechanisms

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