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4,595 Possible Causes for 2, Allele, Cells, Chinese, Complementing, Defective, Hamster, Repair, Repair, X Ray, IN, wt

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  • LIG4 Syndrome

    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] Term Browser Genes (2) Models (2) Disease References using Mouse Models (2)[informatics.jax.org] The patient was compound heterozygous; the mutation in the other LIG4 allele was arg814 to ter (601837.0002).[coriell.org] 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] —Sensitivity of Lig4; Rad54 double-mutant flies to X rays.[genetics.org] Association of LIG4 and XRCC4 gene polymorphisms with the risk of human glioma in a Chinese population.[cancerindex.org] 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] The A3V T9I protein showed reduced adenylation activity compared with WT LIG4 protein ( 50% of the WT activity) (Fig. 2 A).[academic.oup.com] We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.[ncbi.nlm.nih.gov] 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

    Host cell reactivation complementation analysis implicated XP complementation group G.[ncbi.nlm.nih.gov] This phase 2 study evaluated the efficacy of trabectedin at a dose of 1.3 mg/m 2 as a 3-hour intravenous infusion every 3 weeks in hormone receptor-positive, HER-2 (human[ncbi.nlm.nih.gov] The three severely affected XP/CS complex families all have the same splice acceptor site mutation (c.2218-6C A, p.Q739insX42) in one allele.[ncbi.nlm.nih.gov] Nucleotide excision repair, which is defective in xeroderma pigmentosum (XP), involves incision of a DNA strand on each side of a lesion.[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] METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP.[ncbi.nlm.nih.gov] […] of five sections of a 4-week old Xpg / and wt animal.[doi.org] cell proliferation, cell apoptosis, and genes expression.[ncbi.nlm.nih.gov] […] complementation group B OMIM report [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB]() Human gene(s) implicated [EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER[flybase.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]

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  • Fanconi Anemia

    OBJECTIVE: To characterize the impact of genetic complementation groups on central nervous system anatomy.[ncbi.nlm.nih.gov] Deficiency in ALDH2 expression and function are caused by a single nucleotide substitution and resulting amino acid change, called ALDH2*2.[ncbi.nlm.nih.gov] Although several cases appeared to carry missense variants, no bi-allelic pathogenic mutations were identified, indicating that bi-allelic mutations in these FA-genes do not[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] 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] This is the first Chinese FA-L case caused by a novel FANCL mutation.[ncbi.nlm.nih.gov] Defects in DNA repair pathways have been involved in collapse of early neurogenesis leading to brain development abnormalities and embryonic lethality.[doi.org] Wilms tumor (WT) is the most common primary renal tumor in childhood.[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]

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  • Cockayne Syndrome

    However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation.[ncbi.nlm.nih.gov] We report herein 2 cases (siblings) with Cockayne syndrome type A confirmed by biochemical and molecular assays.[ncbi.nlm.nih.gov] Only a minor fraction of XPG mRNA was encoded by this allele. The second, more significantly expressed XPG allele contained a 215C-- A transversion.[ncbi.nlm.nih.gov] Cockayne syndrome (CS) is a premature aging disorder characterized by developmental defects, multisystem progressive degeneration and sensitivity to ultraviolet light.[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] 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] 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] Importantly, EGF-induced FOS transcription was markedly lower in XP-G/Cockayne syndrome (CS) cells expressing truncated XPG than in control cells expressing wild-type (WT)[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]

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  • Xeroderma Pigmentosum Complementation Group B

    , 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] Figure 2.[mdpi.com] […] in DNA repair and defects in approximately 35 different genes.[ashg.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] XRCC6 - X-Ray Repair Complementing Defective Repair in Chinese Hamster Cells 6 The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses[antibodies-online.com] View Article PubMed Google Scholar Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, et al.[ojrd.biomedcentral.com] cells (•), cells infected with AdCMV ( ), and cells infected with AdCMV-Flag 59–114 ( ) after 10 J/m 2 .[cancerres.aacrjournals.org] As indicated below, several of the XP alleles encode ERCC genes.[themedicalbiochemistrypage.org] 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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  • Ataxia Telangiectasia

    The ataxia telangiectasia group D complementing gene (ATDC, also called TRIM29) is highly expressed in many malignancies.[ncbi.nlm.nih.gov] Vincenzo Leuzzi 2 Email author , Alessandro Plebani 3 , Annarosa Soresina 3 , Roberto Micheli 4 , Daniela D’Agnano 2 , Tullia Venturi 2 , Anna Molinaro 5 , Elisa Fazzi 4 ,[doi.org] The results demonstrate that ATM mutations that cause ataxia-telangiectasia in biallelic carriers are breast cancer susceptibility alleles in monoallelic carriers, with an[ncbi.nlm.nih.gov] In addition to DNA-damage signaling defects, A-T cells display mitochondrial dysfunction that is thought to contribute to A-T pathogenesis.[ncbi.nlm.nih.gov] Diagnostic radiographs could not be taken due to her X-ray hypersensitivity.[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] Transcriptome analysis was performed by microarray and showed the differential expression of 599 A-T and 362 wild type (WT) genes and a healthy un-matching between protein[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] Ataxia Telangiectasia Louis-Bar Syndrome At, Complementation Group E At1 At, Complementation Group a Ataxia-Telangiectasia Variant At, Complementation Group D Immunodeficiency[wikidata.org]

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  • Xeroderma Pigmentosum Complementation Group F

    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] Fig 2, 3: Photomicrograph of biopsy of pigmented lesions showing pleomorphic tumour cells with melanin pigment.[edoj.org.eg] However, multivariate logistic analysis showed a non-significant decreased risk in patients carrying rs180067 G allele, rs1799801 T allele or rs2276466 T allele genotypes.[ncbi.nlm.nih.gov] 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] As the C2169A mutation is closely associated with gastric carcinogenesis in the Chinese population, our findings shine light on it as a therapeutic target for early diagnosis[ncbi.nlm.nih.gov] 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] Complementation assay revealed that transfection of the XPF gene led most efficient DNA repair compared with the other XP genes.[ncbi.nlm.nih.gov] The combination genotype of the rs1800067 G allele and the rs2276466 G allele was associated with a moderate risk of glioma (OR 1.71, 95%CI 1.02-2.87).[ncbi.nlm.nih.gov] The XP46KO fibroblasts in culture exhibited a defective DNA repair capacity of 10-15% unscheduled DNA synthesis and a 3-fold sensitivity to the lethal effect of 254 nm ultraviolet[ncbi.nlm.nih.gov]

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  • Xeroderma Pigmentosum-Cockayne Syndrome Complex

    PMID 8823375 Xeroderma pigmentosum complementation group G--report of two cases.[atlasgeneticsoncology.org] Notably, high levels of urinary 8-hydroxy-2'-deoxyguanosin, known as an oxidative stress marker, were observed during the clinical course.[ncbi.nlm.nih.gov] Amorphic alleles of the Drosophila hay gene are lethal; temperature-sensitive, hypomorphic, and RNAi alleles have allowed characterization of later stages.[flybase.org] […] skin cancers developed at a relatively early age in the two previously described patients who also had defective UV-induced unscheduled DNA synthesis.[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] […] hamster, 1 ERCC1 RAD10 126380 3433 ERCC excision repair 2, TFIIH core complex helicase subunit DNA repair defect EM9 of chinese hamster ovary cells, complementation of excision[ukgtn.nhs.uk] These results are in agreement with our RNA-seq results in which WT and XP-D recovered the expression of many genes (97% for WT and 74% genes for XP-D), whereas XP-D/CS cells[pnas.org] DNA Repair 9(1): 2–10.[els.net] 切除修復交差補完群2(ERCC2)遺伝子において、化合物ヘテロ接合変異G47R(c.139G A)およびR616G(c.1846C G)の存在によって診断が確認された。 1年2ヶ月の時点で行われた腎生検では、光学顕微鏡下ではメサンギウム基質および分節性糸球体硬化症が広がり、電子顕微鏡下では部分的に薄層化した細い毛細血管壁が広がっていた。[hpcr.jp] Cancer Institute (NCI) ) Brief Summary: Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective[clinicaltrials.gov]

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  • Xeroderma

    , 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] Takahashi Y 1 , Endo Y 1 , Kusaka-Kikushima A 1 , Nakamaura S 1 , Nakazawa Y 2 , Ogi T 2, 3 , Uryu M 4 , Tsuji G 4 , Furue M 4 , Moriwaki S 5 .[ncbi.nlm.nih.gov] James Cleaver hypothesized that a defect in a DNA repair system caused the disease.[dnaftb.org] UV rays cause DNA damage by dimer formation whereas X-rays will cause single- or double-stranded breaks in DNA.[ncbi.nlm.nih.gov] Lookup English - English (Wordnet) English - Vietnamese Vietnamese - English Vietnamese - Vietnamese Vietnamese - French French - Vietnamese Computing English - English Chinese[vdict.com] These studies also have served to elucidate the nucleotide excision repair (NER) process, especially the critical role played by the XPA protein.[ncbi.nlm.nih.gov] View Article PubMed Google Scholar Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, Gibson L, Goodship JA, Jackson AP, Keng WT, et al.[ojrd.biomedcentral.com] cell death.[journals.plos.org] The defect in this condition is not in NER, but is instead in postreplication repair.[emedicine.medscape.com] 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]

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  • UV-Sensitive Syndrome

    However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation.[ncbi.nlm.nih.gov] Fig. 2. Response to UV irradiation.[pnas.org] In contrast, Cockayne syndrome (CS) patients exhibit severe developmental and neurological defects, in addition to photosensitivity.[ncbi.nlm.nih.gov] […] 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] […] 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] 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] The defect in UV(S)S1VI cells is corrected by expression of the WT CSA gene.[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] 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] Our results indicate that previous complementation analysis of UVs1KO was erroneous.[ncbi.nlm.nih.gov]

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