Cells with DNA repair defects have increased genomic instability and are more likely to acquire secondary mutations that bring about cellular transformation. We describe the frequency and spectrum of somatic mutations involving several tumor suppressor genes in the rectal carcinoma of a 13-year-old girl harboring biallelic, germline mutations in the DNA mismatch repair gene PMS2. Apart from microsatellite instability, the tumor DNA contained a number of C:G→T:A or G:C→A:T transitions in CpG dinucleotides, which often result through spontaneous deamination of cytosine or 5-methylcytosine. Four DNA glycosylases, UNG2, SMUG1, MBD4 and TDG, are involved in the repair of these deamination events. We identified a heterozygous missense mutation in TDG, which was associated with TDG protein loss in the tumor. The CpGs mutated in this patients tumor are generally methylated in normal colonic mucosa. Thus, it is highly likely that loss of TDG contributed to the supermutator phenotype and that most of ...
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hHR23A小鼠多克隆抗体(ab22090)可与酿酒酵母样本反应并经WB实验严格验证,被4篇文献引用。所有产品均提供质保服务,中国75%以上现货。
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In this report, we uncover a novel but important function of CSB in regulating the choice of DNA DSB repair pathways. Our work suggests that CSB facilitates BRCA1‐mediated HR repair by repressing the accumulation of NHEJ‐promoting factors 53BP1 and Rif1 at sites of DNA DSBs in S and G2 cells (Fig 8D). Furthermore, we have demonstrated that CSB is needed for maintaining the ATM‐ and Chk2‐mediated DNA damage checkpoint (Fig 8D), preventing premature entry of cells into mitosis following the induction of DNA DSBs.. We observed a large asymmetry in the ratio of targeting versus retargeting in the recovery of null clones. Although a large asymmetry in gene targeting typically is found to be associated with genes whose function is critical to cell viability (Dang et al, 2006; Hucl et al, 2008; Ruis et al, 2008; Oh et al, 2013), homozygous CSB mutations leading to the complete absence of CSB protein have been reported in patients (Horibata et al, 2004; Hashimoto et al, 2008; Laugel et al, ...
Sigma-Aldrich offers abstracts and full-text articles by [Morten Scheibye-Knudsen, Mahesh Ramamoorthy, Peter Sykora, Scott Maynard, Ping-Chang Lin, Robin K Minor, David M Wilson, Marcus Cooper, Richard Spencer, Rafael de Cabo, Deborah L Croteau, Vilhelm A Bohr].
Infobox_gene}} DNA excision repair protein ERCC-6 (also CS-B protein) is a [[protein]] that in humans is encoded by the ERCC6 [[gene]].,ref name="pmid1339317">{{cite journal , vauthors = Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D, Hoeijmakers JH , title = ERCC6, a member of a subfamily of putative helicases, is involved in Cockaynes syndrome and preferential repair of active genes , journal = Cell , volume = 71 , issue = 6 , pages = 939-53 , date = Dec 1992 , pmid = 1339317 , pmc = , doi = 10.1016/0092-8674(92)90390-X , url = http://repub.eur.nl/pub/3041 }},/ref>,ref name="pmid19179336">{{cite journal , vauthors = Muftuoglu M, de Souza-Pinto NC, Dogan A, Aamann M, Stevnsner T, Rybanska I, Kirkali G, Dizdaroglu M, Bohr VA , title = Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase , journal = The Journal of Biological Chemistry , volume = 284 , issue = 14 , pages = 9270-9 , date = Apr 2009 , pmid = 19179336 , pmc = ...
Meira, LB, Graham, JM, Greenberg, CR, Busch, DB, Doughty, ATB, Ziffer, DW, Coleman, DM, Savre-Train, I and Friedberg, EC (2000) Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene ...
Wærsted, Jeanette Ringvoll; Nabong, Marivi; Nordstrand, Line Mari; Meira, LB; Pang, B; Bekkelund, Anders; Dedon, PC; Bjelland, S; Samson, LD; Falnes, Pål & Klungland, Arne (2008). AlkB homologue 2-mediated repair of ethenoadenine lesions in mammalian DNA. Cancer Research. ISSN 0008-5472. 68(11), s 4142- 4149 . doi: 10.1158/0008-5472.CAN-08-0796 Vis sammendrag Endogenous formation of the mutagenic DNA adduct 1,N6-ethenoadenine ({varepsilon}A) originates from lipid peroxidation. Elevated levels of {varepsilon}A in cancer-prone tissues suggest a role for this adduct in the development of some cancers. The base excision repair pathway has been considered the principal repair system for {varepsilon}A lesions until recently, when it was shown that the Escherichia coli AlkB dioxygenase could directly reverse the damage. We report here kinetic analysis of the recombinant human AlkB homologue 2 (hABH2), which is able to repair {varepsilon}A lesions in DNA. Furthermore, cation exchange chromatography of ...
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I have the WORST pms. A week before my cycle and then the week of my cycle. So I am only capable of being a nice person 2 weeks of the month. My husband
皇家蜂王乳雙導精華」中的"緊實修護精華"(REPAIR),蘊含嬌蘭獨家、並首度灌注於蜂王乳系列的烏埃尚島黑蜂蜂王乳精萃,來自烏埃尚島黑蜂所產的蜂王乳相當難以採集,需要細膩的專門技術以及金匠般的準確度。這款配方所採用的烏埃尚島黑蜂蜂王乳,世上極為罕見,由嬌蘭獨家使用,且可百分百追溯生產源頭。生命力極其旺盛的黑蜂其蜂王乳,由內而外替您層層修護,肌膚重現彈力膨潤。 ...
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. Wikipedia Mutations in the ERCC8 (also known as CSA) gene or the ERCC6 (also known as CSB) gene are the cause of Cockayne syndrome. Mutations in the ERCC6 gene mutation makes up ~70% of cases.Wikipedia Cockayne syndrome patients appear to be particularly vulnerable to ...
Brain tumor news: MGMT Promoter Methylation Status Can Predict the Incidence and Outcome of Pseudoprogression After Concomitant Radiochemotherapy in Newly Diagnosed Glioblastoma Patients
TY - JOUR. T1 - Continuing the search for MR imaging biomarkers for MGMT promoter methylation status. T2 - Conventional and perfusion MRI revisited. AU - Gupta, Ajay. AU - Omuro, Antonio M P. AU - Shah, Akash D.. AU - Graber, Jerome J.. AU - Shi, Weiji. AU - Zhang, Zhigang. AU - Young, Robert J.. PY - 2012/6. Y1 - 2012/6. UR - http://www.scopus.com/inward/record.url?scp=84862895140&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=84862895140&partnerID=8YFLogxK. U2 - 10.1007/s00234-011-0970-z. DO - 10.1007/s00234-011-0970-z. M3 - Article. C2 - 22006425. AN - SCOPUS:84862895140. VL - 54. SP - 641. EP - 643. JO - Neuroradiology. JF - Neuroradiology. SN - 0028-3940. IS - 6. ER - ...
Nucleases play important roles in DNA synthesis, recombination and repair. We have previously shown that human exonuclease 1 (hEXO1) is phosphorylated in response to agents stalling DNA replication and that hEXO1 consequently undergoes ubiquitination and degradation in a proteasome-dependent manner. In the present study, we have addressed the identity of the pathway transducing stalled-replication signals to hEXO1. Using chemical inhibitors, RNA interference, ATM- and ATR-deficient cell lines we have concluded that hEXO1 phosphorylation is ATR-dependent. By means of mass spectrometry, we have identified the sites of phosphorylation in hEXO1 in undamaged cells and in cells treated with hydroxyurea (HU). hEXO1 is phosphorylated at nine basal sites and three additional sites are induced by HU treatment. Analysis of single- and multiple-point mutants revealed that mutation to Ala of the three HU-induced sites of phosphorylation partially rescued HU-dependent degradation of hEXO1 and additionally ...
1783 Ape1 is the major human apurinic/apyrimidinic (AP) endonuclease, with significant functions in the repair of 3-oxidative DNA damages, such as phosphoglycolates, as well as 3-non-conventional ends. We have recently shown that besides processing AP and strand break damages in the context of duplex oligonucleotide substrates, Ape1 also cleaves efficiently at AP sites in single-stranded (ss) DNA regions. This includes the incision of AP sites in the ss portion of bubble- and fork-like DNA conformations. We are presently examining the role of DNA secondary structure on Ape1 incision efficiency of ss AP site-containing oligonucleotides. In addition, we are exploring the impact of the ss DNA binding protein RPA and the Cockayne syndrome B protein (CSB) on regulating Ape1 activity on ss and bubble-containing AP substrates. The biological ramifications of Ape1s ability to incise alternative DNA structural forms, particularly in the context of replication- or transcription-coupled repair, will be ...
Return to Progress index. 1. Virus-driven inflammation is associated with the development of bNAbs in spontaneous controllers of HIV. Dugast AS, Arnold K, Lofano G, Moore S, Hoffner M, Simek M, Poignard P, Seaman M, Suscovich T, Pereyra F, Walker BD, Lauffenburger D, Kwon D, Keele BF, Alter G. Clin Infect Dis. pubmed:28158448; doi:10.1093/cid/cix057. 2. Integrated assessment of diclofenac biotransformation, pharmacokinetics, and omics-based toxicity in a 3D human liver-immunocompetent co-culture system. Sarkar U, Ravindra KC, Large E, Young CL, Rivera-Burgos D, Yu J, Cirit M, Hughes DJ, Wishnok JS, Lauffenburger DA, Griffith LG, Tannenbaum SR. Drug Metab Dispos. pubmed:28450578; doi:10.1124/dmd.116.074005. 3. Swimming bacteria promote dispersal of non-motile staphylococcal species. Samad T, Billings N, Birjiniuk A, Crouzier T, Doyle PS, Ribbeck K. ISME J. pubmed:28398350; doi:10.1038/ismej.2017.23. 4. A novel role for transcription-coupled nucleotide excision repair for the in vivo repair of ...
TY - JOUR. T1 - Substrate recognition by the human MTH1 protein.. AU - Kamiya, Hiroyuki. AU - Dugué, Laurence. AU - Yakushiji, Hiroyuki. AU - Pochet, Sylvie. AU - Nakabeppu, Yusaku. AU - Harashima, Hideyoshi. PY - 2002. Y1 - 2002. N2 - A nucleotide pool sanitizing enzyme, the human MTH1 protein, hydrolyzes 2-hydroxy-dATP, 8-hydroxy-dATP, and 8-hydroxyd-GTP. To examine the substrate recognition mechanism of the MTH1 protein, ten nucleotide analogs (8-bromo-dATP, 8-bromod-GTP, deoxyisoinosine triphosphate, 8-hydroxy-dITP, 2-aminopurine-deoxyriboside triphosphate, 2-amino-dATP, deoxyxanthosine triphosphate, deoxyoxanosine triphosphate, dITP, and dUTP) were incubated with the protein. Of these, the former five nucleotides were hydrolyzed with various efficiencies. This results suggests the importance of the anti/syn-conformation and the functional groups on the 2 and 6-positions of the purine ring.. AB - A nucleotide pool sanitizing enzyme, the human MTH1 protein, hydrolyzes 2-hydroxy-dATP, ...
Cockayne syndrome is a rare autosomal recessive (see diagram below), heterogeneous, multisystem disorder characterized by dwarfism, progressive pigmentary retinopathy, birdlike facies, and photosensitivity. The syndrome is divided into 2 subtypes.
Cockayne Syndrome is a rare inherited disorder characterized by growth retardation, abnormal sensitivity to light (photosensitivity), and a prematurely aged appearance.
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12:02, 7 December 2012 (diff , hist) . . (+43,540)‎ . . N Structural Biochemistry/DNA Repair/Polynucleotide kinase/phosphatase in DNA strand break repair ‎ (Created page with ==Introduction== DNA strand breaks are often caused by internal and external factors. After the termini of these strands break, they require processing before missing nucleoti...) ...
MIT researchers have discovered how overactive DNA repair systems can lead to retinal damage and blindness in mice. A DNA repair enzyme called Aag glycosylase becomes hyperactive, provoking an inflammatory response that produces necrosis, leading to severe tissue damage.
... provides a forum for the comprehensive coverage of DNA repair and cellular responses to DNA damage. The journal publishes original...
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View Notes - Lecture 4 from MCDB 144 at UCLA. Lecture #4 DNA Repair MBOC (old) Page 267-285 MBOC (new) Page 295-311 Concepts What can induce DNA Damage Describe repair mechanisms for the following
The lab of Brian Strahl, PhD, at the UNC School of Medicine, has found that the enzyme Set2 is a major player in DNA repair, a complicated and crucial process that can lead to the development of cancer cells if the repair goes wrong.
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After layout design data has been modified using a resolution enhancement process, a repair flow is initiated. This repair flow includes checking a layout design altered by a resolution enhancement process for errors. A repair process is performed to correct detected sub-resolution assist feature errors. The repair process may employ a rule-based sub-resolution assist feature technique, a model-based sub-resolution assist feature technique, an inverse lithography-based sub-resolution assist feature technique, or any combination thereof.
...   DNA repair refers to a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In
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RAD54小鼠单克隆抗体[Rad54 4E3/1](ab11055)可与人样本反应并经WB, IP, Flow Cyt, ICC/IF实验严格验证,被4篇文献引用并得到4个独立的用户反馈。所有产品均提供质保服务,中国75%以上现货。
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