Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
about
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansionHigh frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 genedbCRID: a database of chromosomal rearrangements in human diseasesComplex landscapes of somatic rearrangement in human breast cancer genomes.Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndromeArchitectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolutionMultiple cellular mechanisms prevent chromosomal rearrangements involving repetitive DNAUncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substratesCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.Recurring genomic breaks in independent lineages support genomic fragility.Global mapping of transposon location.A sequence-based survey of the complex structural organization of tumor genomes.Sequence features of HLA-DRB1 locus define putative basis for gene conversion and point mutationsIdentification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders.Genome and gene alterations by insertions and deletions in the evolution of human and chimpanzee chromosome 22.Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening.A novel spliced fusion of MLL with CT45A2 in a pediatric biphenotypic acute leukemia.Targeted next-generation sequencing at copy-number breakpoints for personalized analysis of rearranged ends in solid tumors.From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Genetic basis of variation in adenoma multiplicity in ApcMin/+ Mom1S mice.Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletionBreakpoint characterization of large deletions in EXT1 or EXT2 in 10 multiple osteochondromas familiesMechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell linesBreakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.Long-range massively parallel mate pair sequencing detects distinct mutations and similar patterns of structural mutability in two breast cancer cell linesFine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.The human LINE-1 retrotransposon creates DNA double-strand breaks.Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.Extension of Saccharomyces paradoxus chronological lifespan by retrotransposons in certain media conditions is associated with changes in reactive oxygen species.Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region.Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Mutator phenotype of Caenorhabditis elegans DNA damage checkpoint mutantsA de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder.Tandem repeats and G-rich sequences are enriched at human CNV breakpointsOn 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.Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation.
P2860
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P2860
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh
2003年學術文章
@zh-hant
name
Translocation and gross deleti ...... combination-associated motifs.
@en
type
label
Translocation and gross deleti ...... combination-associated motifs.
@en
prefLabel
Translocation and gross deleti ...... combination-associated motifs.
@en
P2860
P50
P356
P1433
P1476
Translocation and gross deleti ...... combination-associated motifs.
@en
P2093
Edward V Ball
Shaun S Abeysinghe
P2860
P304
P356
10.1002/HUMU.10254
P577
2003-09-01T00:00:00Z