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6,313 Possible Causes for 3, Chinese, X ray, cells, complementing, defective, hamster, IN, mouse, protein,, repair, repair

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  • LIG4 Syndrome

    […] send to {{ username }} {{geneWatchAttr}} Analyze Gene Strain QTL List Functional Annotation unavailable Annotation Distribution unavailable Genomic Variants unavailble for Mouse[rgd.mcw.edu] Because defects in DNA repair genes involved in double-strand breaks (DSBs) repair, such as BRCA1 and BRCA2 , are implicated in familiar OC, overall DNA repair capacity may[wjgnet.com] This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK).[okdb.appliedbioinfo.net] Measurement of phosphorylated (p) ATM, SMC1, and H2AX (γH2AX) was performed by flow cytometry to assess DNA repair defects in a 3-year-old girl.[bloodadvances.org] We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.[ncbi.nlm.nih.gov] We next examined hamster-expressed R814X LIG4 for adenylation activity.[academic.oup.com] Tandem BRCT domains of LigIV mediate a unique mode of protein-protein interaction.[mcb.asm.org] Association of LIG4 and XRCC4 gene polymorphisms with the risk of human glioma in a Chinese population.[cancerindex.org] —Sensitivity of Lig4; Rad54 double-mutant flies to X rays.[genetics.org] Vaccinia Construction of a vaccinia virus deficient in the essential DNA repair enzyme uracil DNA glycosylase by a complementing cell line.[brenda-enzymes.org]

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  • Xeroderma Pigmentosum

    Top right: Photograph of a 14-week old Xpg / mouse.[doi.org] This complex is a structure-specific endonuclease responsible for the 5' incision during repair.[ncbi.nlm.nih.gov] , COMPLEMENTATION GROUP B; XPB]() Human gene(s) implicated [EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3]() Symptoms and phenotype See general description[flybase.org] PATIENTS AND METHODS: Patients were stratified into high-XPG ( 3) or low-XPG ( 3) groups.[ncbi.nlm.nih.gov] cell proliferation, cell apoptosis, and genes expression.[ncbi.nlm.nih.gov] Hence, this review aims to summarize the current knowledge of mapped mutations and other structural information on XP proteins that influence their function and protein-protein[ncbi.nlm.nih.gov] METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP.[ncbi.nlm.nih.gov] Normal and XP cells repair X-ray damage equally well. (That is correct.) Neither cell can repair X-ray damage. (No, that is incorrect.)[dnaftb.org] These proteins include ERCC1 (ERCC1 excision repair cross complementing 1 gene; the ERCC genes are also called excision repair, complementing defective, in Chinese hamster[themedicalbiochemistrypage.org] A well-circumscribed hemispherical mass measuring 3 cm 3 cm with smooth surface and brown patches was observed beneath his left lower eyelid.[ncbi.nlm.nih.gov]

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  • Cockayne Syndrome

    In conclusion, CS mouse models mice develop a range of CS phenotypes and open promising perspectives for testing interventional approaches.[ncbi.nlm.nih.gov] repair (BER) of oxidized DNA bases both directly (by interaction with BER proteins) and indirectly (by modulating the expression of the DNA repair genes).[ncbi.nlm.nih.gov] However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation.[ncbi.nlm.nih.gov] Electronic address: [email protected] 3 Department of Dental Anesthesiology, Faculty of Dental Science, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka[ncbi.nlm.nih.gov] Secondly, the repair level of active genes in CS cells exceeds that of inactive loci but is slower than the nontranscribed strand of active genes in normal cells.[ncbi.nlm.nih.gov] Morten Sunesen, Tinna Stevnsner, Robert M Brosh Jr, Grigory L Dianov and Vilhelm A Bohr , Global genome repair of 8-oxoG in hamster cells requires a functional CSB gene product[doi.org] Cockayne syndrome (CS) is a premature aging disorder characterized by developmental defects, multisystem progressive degeneration and sensitivity to ultraviolet light.[ncbi.nlm.nih.gov] Abstract The Cockayne syndrome complementation group B (CSB) protein is an ATP-dependent chromatin remodeler with an essential function in transcription-coupled DNA repair[ncbi.nlm.nih.gov] In this study, we describe the case of a 7-year-old Chinese boy with characteristic symptoms of Cockayne syndrome A and the conduction of mutation screening of the CSA gene[ncbi.nlm.nih.gov] In contrast, RNA polymerase I-dependent transcription was severely inhibited at 5 Gy in normal cells, indicating different mechanisms of transcription response to X rays.[ncbi.nlm.nih.gov]

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  • Fanconi Anemia

    […] in the mouse.[doi.org] Defects in DNA repair pathways have been involved in collapse of early neurogenesis leading to brain development abnormalities and embryonic lethality.[doi.org] OBJECTIVE: To characterize the impact of genetic complementation groups on central nervous system anatomy.[ncbi.nlm.nih.gov] Abstract To potentially reduce late effects of malignancy and chronic graft-versus-host disease in patients with Fanconi anemia, 3 patients received unmanipulated umbilical[ncbi.nlm.nih.gov] In cell culture and transplantation models of FA, we further demonstrate that LV carrier cells migrate along SDF-1α gradients and transfer vector particles that stably integrate[ncbi.nlm.nih.gov] We identified the gene as human XRCC9, a gene which has been shown to complement the MMC-sensitive Chinese hamster mutant UV40, and is suspected to be involved in DNA post-replication[ncbi.nlm.nih.gov] However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia.[ncbi.nlm.nih.gov] The 20 FANC proteins identified to date constitute the FANC pathway.[ncbi.nlm.nih.gov] This is the first Chinese FA-L case caused by a novel FANCL mutation.[ncbi.nlm.nih.gov] Special precautions with medicines and diagnostic tests or treatments with X-ray or radiation Fanconi anemia is a life-long disease that can be life threatening.[urmc.rochester.edu]

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  • Xeroderma Pigmentosum Complementation Group C

    RPA473Mu01 Organism Species Mus musculus (Mouse) Same name, Different species.[cloud-clone.com] Cell Cycle versus DNA Repair Defects 90 Genotype and Phenotype Correlation of AT Patients 93 Mechanisms of DNA Damage and Repair in Alzheimer Disease V Prakash Reddy George[books.google.com] Abstract The distribution of ultraviolet-induced DNA repair patches in the genome of xeroderma pigmentosum cells of complementation group C was investigated by determining[ncbi.nlm.nih.gov] Mar 2012;132(3 Pt 2):785-96. Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D, et al.[afjho.com] RRID:CVCL_ST62 Cancer cell line Male HZGHC003778c002, ITPR2 knockout cell line 17bp deletion Wikidata; Q54875862 CVCL_Y019 ![scicrunch.org] These proteins include ERCC1 (ERCC1 excision repair cross complementing 1 gene; the ERCC genes are also called excision repair, complementing defective, in Chinese hamster[themedicalbiochemistrypage.org] Overexpressed Q320X mutant can localize to site of DNA damage, but it is defective in CPD and 6-4PP repair.[ncbi.nlm.nih.gov] Abstract The human homolog of the yeast DNA repair protein RAD23, hHR23A, has been found previously to interact with the human immunodeficiency virus, type 1 accessory protein[ncbi.nlm.nih.gov] Using bioinformatics tools, and a combination of several experimental methods (circular dichroism, fluorescence, nuclear magnetic resonance, and small-angle X-ray scattering[ncbi.nlm.nih.gov] […] or 3.[ncbi.nlm.nih.gov]

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  • Ataxia Telangiectasia

    These latter phenotypes are recapitulated in the ATM null (ATM(-/-)) mouse model of the disease.[ncbi.nlm.nih.gov] Furthermore, pharmacological inhibition of Lig3 in wild type cells phenocopies the mtDNA repair defects observed in A-T patient cells.[ncbi.nlm.nih.gov] The ataxia telangiectasia group D complementing gene (ATDC, also called TRIM29) is highly expressed in many malignancies.[ncbi.nlm.nih.gov] A partial ATM complementary DNA clone of 5.9 kilobases encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved[ncbi.nlm.nih.gov] Here, we tested the feasibility of employing circulating erythroid cells, a compartment no or minimally affected in A-T, for the generation of A-T and carrier iPS cells.[ncbi.nlm.nih.gov] Use of catalytic topoisomerase II inhibitors to probe mechanisms of chemical-induced clastogenicity in Chinese hamster V79 cells . Environ. Mol.[doi.org] Here we identified that Cpn10/HSPE, a 10-kDa heat shock protein, is a novel interacting partner of NPAT.[ncbi.nlm.nih.gov] We reported the clinical and genetic findings of three early-onset Chinese patients who demonstrated ataxia, oculomotor apraxia, choreoathetosis, myoclonus and telangiectasia[ncbi.nlm.nih.gov] Diagnostic radiographs could not be taken due to her X-ray hypersensitivity.[ncbi.nlm.nih.gov] Our results demonstrate high bronchoalveolar sensitivity to ROS and ROS-induced DNA damage in the Atm-deficient mouse model and support the hypothesis that ATM plays a pivotal[ncbi.nlm.nih.gov]

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  • Xeroderma Pigmentosum Complementation Group B

    The human and mouse ERCC3 proteins contain several sequence motifs suggesting that it is a nucleic acid or chromatin binding helicase.[ncbi.nlm.nih.gov] ERCC1 (Excision Repair Cross Complementing Polypeptide-1): The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of[antibodies-online.com] , COMPLEMENTATION GROUP B; XPB]() Human gene(s) implicated [EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3]() Symptoms and phenotype See general description[flybase.org] cells (•), cells infected with AdCMV ( ), and cells infected with AdCMV-Flag 59–114 ( ) after 10 J/m 2 .[cancerres.aacrjournals.org] […] in DNA repair and defects in approximately 35 different genes.[ashg.org] 4 DNA Repair Protein Complementing XP-C Cells 3 Xeroderma Pigmentosum Group C Protein 2 Mutant Xeroderma Pigmentosum Group C 3 RAD4 3 XP3 3 External Ids for XPC Gene Previous[genecards.org] See also ERCC1, ERCC2, ERCC4, ERCC5, and ERCC6, as well as the XRCC1 gene that corrects the x-ray sensitivity of the CHO mutant cell line EM-9.[cloud-clone.com] Res. volume 406 issue 2-4 pages 115–20 year 1999 pmid 10479728 doi * cite journal author Shannon M, Lamerdin JE, Richardson L, "et al." title Characterization of the mouse[partners.academic.ru] These four genes participate in DNA damage excision activity, gene-specific repair, and linkage of DNA repair with DNA transcription.[ncbi.nlm.nih.gov] Hyperplasia of the squamous epithelium formed from atypical cells with hyperkeratosis and dermal infiltration of tumor cells (magnification, 40).[karger.com]

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  • Xeroderma Pigmentosum Complementation Group F

    Datasheet References (2) Protocols Product name Description Rabbit polyclonal to XPF Host species Rabbit Tested applications Species reactivity Reacts with: Mouse, Human Immunogen[abcam.com] XPF/ERCC1 endonuclease is required for DNA lesion repair.[ncbi.nlm.nih.gov] Abstract Genetic complementation studies allowed assignment of a 22-year-old-white woman to the rare complementation group of classic, excision-defective xeroderma pigmentosum[ncbi.nlm.nih.gov] Mar 2012;132(3 Pt 2):785-96. Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D, et al.[afjho.com] Although a line of fibroblasts derived from the patient, Kps6 cells, were slightly more sensitive to UV irradiation than normal cells, their level of unscheduled DNA synthesis[ncbi.nlm.nih.gov] […] cross-complementation group 4 antibody excision repair cross-complementing rodent repair deficiency, complementation group 4 antibody excision-repair, complementing defective, in Chinese hamster[bethyl.com] Endonuclease Catalytic Subunit 2 3 5 Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 4 2 3 Xeroderma Pigmentosum Group F-Complementing Protein[genecards.org] XRF X-ray fluorescence XRII X-ray image intensifier XRMR X-linked recessive mental retardation XRN X-linked recessive nephrolithiasis XRS X-ray sensitivity XRT X-ray therapy[globalrph.com] PMID 9188507 Disruption of mouse ERCC1 results in a novel repair syndrome with growth failure, nuclear abnormalities and senescence.[atlasgeneticsoncology.org] Complementation assay revealed that transfection of the XPF gene led most efficient DNA repair compared with the other XP genes.[ncbi.nlm.nih.gov]

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  • Xeroderma Pigmentosum Variant

    Transfection of the mouse or human XPV cDNA into human XP-V cells corrected UV sensitivity.[ncbi.nlm.nih.gov] Abstract Postreplication repair (PRR) was quantified in normal human fibroblasts and in xeroderma pigmentosum (XP) variant fibroblasts after treatment with UV or benzo[a]pyrene[ncbi.nlm.nih.gov] Ben Rekaya M 1 , Laroussi N 1 , Messaoud O 1 , Jones M 2 , Jerbi M 1 , Naouali C 1 , Bouyacoub Y 1 , Chargui M 1 , Kefi R 1 , Fazaa B 2 , Boubaker MS 3 , Boussen H 4 , Mokni[ncbi.nlm.nih.gov] […] yield of photodamage through the cell cycle.[ncbi.nlm.nih.gov] Furthermore, extracts from XPV cells were found to be defective in translesion synthesis [A. Cordonnier, A.R. Lehmann, R.P.P.[ncbi.nlm.nih.gov] The protein factor corrected the translesion defects of extracts from three XPV cell strains.[ncbi.nlm.nih.gov] In the present study, we reported a Chinese family with XPV phenotype, which was confirmed by histopathological results.[ncbi.nlm.nih.gov] In x-ray-damaged cells, in contrast, there is no association between hMre11 and proliferating cell nuclear antigen.[ncbi.nlm.nih.gov] Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree with Xeroderma Pigmentosum, Variant Type.[medsci.org] Sequential digestion with both enzymes degraded nearly 90% of the repaired regions.[ncbi.nlm.nih.gov]

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  • UV-Sensitive Syndrome

    Contribution of Asian mouse subspecies Mus musculus molossinus to genomic constitution of strain C57BL/6J, as defined by BAC-end sequence-SNP analysis .[nature.com] Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways[doi.org] However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation.[ncbi.nlm.nih.gov] UV-sensitive syndrome type 3 (UVSSA) DNA Test Leave Message Reporting Time: 5 Week Test Cost: 30000.00 /- Rs Sample Type: EDTA blood or DNA UV-sensitive syndrome type 3 (UVSSA[dnalabsindia.com] cell lines tested.[ncbi.nlm.nih.gov] Spivak G. and Hanawalt P.C. (1996) Fine structure mapping of DNA repair within a 100 kb genomic region in Chinese hamster ovary cells, Mutat. Res. 350:207-216.[stanford.edu] Using a SILAC-based proteomic approach, we identified UVSSA (formerly known as KIAA1530) as part of a UV-induced ubiquitinated protein complex.[ncbi.nlm.nih.gov] […] help diagnosis eye and balance problems Ng or Eng, a surname Velar nasal or eng, a phoneme Eng, Tyrol , an exclave in Tyrol, Austria People with the surname Esther Eng , Chinese–American[newspaperslibrary.org] […] nucleotide-excision repair, preincision complex assembly GO:0006294 9.7 ERCC2 ERCC3 ERCC5 15 response to UV GO:0009411 9.7 ERCC2 ERCC3 ERCC5 ERCC6 ERCC8 PGBD3 16 response to X-ray[malacards.org] The following procedures may be used in the staging process: Chest x-ray : An x-ray of the organs and bones inside the chest.[my.clevelandclinic.org]

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