Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome
about
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombinationRing finger protein RNF169 antagonizes the ubiquitin-dependent signaling cascade at sites of DNA damageThe histone demethylase LSD1/KDM1A promotes the DNA damage responseFine-tuning the ubiquitin code at DNA double-strand breaks: deubiquitinating enzymes at workModeling the study of DNA damage responses in miceDiseases associated with defective responses to DNA damageDouble strand break repair functions of histone H2AXCombining RNA and protein profiling data with network interactions identifies genes associated with spermatogenesis in mouse and human.USP28 is recruited to sites of DNA damage by the tandem BRCT domains of 53BP1 but plays a minor role in double-strand break metabolism.Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.The role of histone ubiquitination during spermatogenesis.An RNF168 fragment defective for focal accumulation at DNA damage is proficient for inhibition of homologous recombination in BRCA1 deficient cells.Tight regulation of ubiquitin-mediated DNA damage response by USP3 preserves the functional integrity of hematopoietic stem cells.A Newfound association between MDC1 functional polymorphism and lung cancer risk in Chinese.Synergistic interaction of Rnf8 and p53 in the protection against genomic instability and tumorigenesis.Ectopic expression of RNF168 and 53BP1 increases mutagenic but not physiological non-homologous end joining.MDC1 functionally identified as an androgen receptor co-activator participates in suppression of prostate cancer.JMJD1C Exhibits Multiple Functions in Epigenetic Regulation during SpermatogenesisRAP80 is critical in maintaining genomic stability and suppressing tumor development.RING finger nuclear factor RNF168 is important for defects in homologous recombination caused by loss of the breast cancer susceptibility factor BRCA1RNF8 regulates active epigenetic modifications and escape gene activation from inactive sex chromosomes in post-meiotic spermatids.RNF4 is required for DNA double-strand break repair in vivo.Hypermethylation of genes in testicular embryonal carcinomasRIF1 counteracts BRCA1-mediated end resection during DNA repairCHFR is important for the survival of male premeiotic germ cellsRNF8 deficiency results in neurodegeneration in mice.A role for the p53 tumour suppressor in regulating the balance between homologous recombination and non-homologous end joining.RNF168 ubiquitylates 53BP1 and controls its response to DNA double-strand breaks.AIDing Chromatin and Transcription-Coupled Orchestration of Immunoglobulin Class-Switch Recombination.Genomic analysis of exceptional responders to radiotherapy reveals somatic mutations in ATM.DNA repair: the link between primary immunodeficiency and cancer.Posttranslational control of telomere maintenance and the telomere damage response.Ubiquitination events that regulate recombination of immunoglobulin Loci gene segments.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human diseaseRNF168 and USP10 regulate topoisomerase IIα function via opposing effects on its ubiquitylationGPS2/KDM4A pioneering activity regulates promoter-specific recruitment of PPARγ.Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.The mTOR-S6K pathway links growth signalling to DNA damage response by targeting RNF168.An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168.Robust immunoglobulin class switch recombination and end joining in Parp9-deficient mice.
P2860
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P2860
Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
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
name
Genomic instability, defective ...... e model of the RIDDLE syndrome
@ast
Genomic instability, defective ...... e model of the RIDDLE syndrome
@en
type
label
Genomic instability, defective ...... e model of the RIDDLE syndrome
@ast
Genomic instability, defective ...... e model of the RIDDLE syndrome
@en
prefLabel
Genomic instability, defective ...... e model of the RIDDLE syndrome
@ast
Genomic instability, defective ...... e model of the RIDDLE syndrome
@en
P2093
P2860
P50
P1433
P1476
Genomic instability, defective ...... e model of the RIDDLE syndrome
@en
P2093
Anne Hakem
Dimphy Zeegers
Miyuki Bohgaki
Otto Sanchez
Razqallah Hakem
Renato Cardoso
Stephanie Panier
Toshiyuki Bohgaki
P2860
P304
P356
10.1371/JOURNAL.PGEN.1001381
P577
2011-04-28T00:00:00Z