Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines
about
Common fragile sites: genomic hotspots of DNA damage and carcinogenesisChromosome fragile sites in Arabidopsis harbor matrix attachment regions that may be associated with ancestral chromosome rearrangement eventsSomatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.Simultaneous identification of multiple driver pathways in cancerAberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Genomic instability in the PARK2 locus is associated with Parkinson's disease.Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue.Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.Genetic insights into sporadic Parkinson's disease pathogenesis.Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes.Interplay between genetic and epigenetic factors governs common fragile site instability in cancer.Alu-Alu fusion sequences identified at junction sites of copy number amplified regions in cancer cell lines.Genomic rearrangements at the FRA2H common fragile site frequently involve non-homologous recombination events across LTR and L1(LINE) repeats.Twenty years since the discovery of the parkin gene.Contribution of germline mutations to PARK2 gene inactivation in lung adenocarcinoma.The FRA2C common fragile site maps to the borders of MYCN amplicons in neuroblastoma and is associated with gross chromosomal rearrangements in different cancers.PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population.Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.PARK2 inhibits osteosarcoma cell growth through the JAK2/STAT3/VEGF signaling pathway.Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease
P2860
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P2860
Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@ast
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@en
type
label
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@ast
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@en
prefLabel
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@ast
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@en
P2093
P2860
P50
P1476
Mechanisms of genomic instabil ...... erm cell and cancer cell lines
@en
P2093
David I Smith
Hiroyo Yoshino
Hiroyuki Aburatani
Hiroyuki Tomiyama
Ichizo Nishino
Jun Mitsui
Narihiro Minami
Shoji Tsuji
Shunpei Ishikawa
P2860
P356
10.1016/J.AJHG.2010.06.006
P407
P577
2010-07-01T00:00:00Z