Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
about
Mechanisms of gene duplication and amplificationMutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalitiesMechanisms underlying structural variant formation in genomic disordersCNVs: harbingers of a rare variant revolution in psychiatric geneticsOrigin-Dependent Inverted-Repeat Amplification: Tests of a Model for Inverted DNA AmplificationStructural variation mutagenesis of the human genome: Impact on disease and evolution.PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variationsBreakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.Extensive pericentric rearrangements in the bread wheat (Triticum aestivum L.) genotype "Chinese Spring" revealed from chromosome shotgun sequence data.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.Chimeric transcripts resulting from complex duplications in chromosome Xq28CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsGenomic hypomethylation in the human germline associates with selective structural mutability in the human genome.Shattered and stitched chromosomes-chromothripsis and chromoanasynthesis-manifestations of a new chromosome crisis?The chromatin assembly factor 1 promotes Rad51-dependent template switches at replication forks by counteracting D-loop disassembly by the RecQ-type helicase Rqh1A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.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.Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplicationSVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instabilityConcurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.Genome architecture and its roles in human copy number variation.Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.Absence of heterozygosity due to template switching during replicative rearrangements.Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher diseaseAlu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.Looking back at genomic medicine in 2011.Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool)Mechanisms for recurrent and complex human genomic rearrangements.The human clinical phenotypes of altered CHRNA7 copy numberMechanisms of Gene Duplication and Translocation and Progress towards Understanding Their Relative Contributions to Animal Genome Evolution.Mechanisms for Complex Chromosomal Insertions.Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements.Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.
P2860
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P2860
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Inverted genomic segments and ...... d repeats in the human genome.
@ast
Inverted genomic segments and ...... d repeats in the human genome.
@en
type
label
Inverted genomic segments and ...... d repeats in the human genome.
@ast
Inverted genomic segments and ...... d repeats in the human genome.
@en
prefLabel
Inverted genomic segments and ...... d repeats in the human genome.
@ast
Inverted genomic segments and ...... d repeats in the human genome.
@en
P2093
P2860
P50
P356
P1433
P1476
Inverted genomic segments and ...... d repeats in the human genome.
@en
P2093
Alanna McCall
Claudia M B Carvalho
Daniela Del Gaudio
Eniko Karman Pivnick
James R Lupski
Laurie H Seaver
Linda Friehling
Luis M Franco
Marjorie Withers
Melissa B Ramocki
P2860
P2888
P304
P356
10.1038/NG.944
P407
P577
2011-10-02T00:00:00Z
P5875
P6179
1029975937