Relevant bibliographies by topics / Pol01

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Academic literature on the topic 'Pol01'

Author: Grafiati
Published: 29 July 2024
Last updated: 30 July 2024

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Journal articles on the topic "Pol01"

1

Perfecto-Avalos, Yocanxochitl, Jose R. Borbolla Escoboza, Luis M. Villela-Martiez, Sean P. Scott, Jorge Vela-Ojeda, Oscar Gonzalez-Ramella, Severiano Baltazar-Arellano, and Manuel A. Lopez-Hernandez. "Correlation between FOXP3 Gene Polymorphisms in Donors, and the Severity of Acute Graft-Versus-Host Disease in Patients after Related Allogeneic Stem Cell Transplantation." Blood 110, no. 11 (November 16, 2007): 3233. http://dx.doi.org/10.1182/blood.v110.11.3233.3233.

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Abstract INTRODUCTION: Acute Graft-versus-host disease (aGVHD) is a major complication of allogeneic stem cell transplantation (alloSCT). Risk factors include patient age, sex matching, CMV status and degree of match. Regulatory T cells are critical for immune tolerance processes such as aGVHD, and express the transcription factor FOXP3, a member of the forkhead/winged-helix family, identified as a key regulatory gene required for the development and activity of these cells. It has been suggested that genetic expression of FOXP3 is inversely correlated with the severity of the GVHD. We studied donor’s DNA looking for 5 polymorphisms on the promoter region of the FOXP3 gene, and we tried to correlate them with presence and degree of aGVHD. PATIENTS AND METHODS: We studied donors of stem cells for allogeneic stem cell transplants. We looked for the presence of the following polymorphisms by PCR: POL01 −5906 T/A rs2869211; POL03 −3279 A/C rs3761548 ; POL04 −2383 C/T rs3761549 ; POL05 −1383 C/T rs2232364 ; POL06 −924 A/G rs2232365. RESULTS: Our sample consisted of 31 donors, all siblings. In them we found only 2 of the 5 FOXP3 polymorphisms, either as homozygous or heterozygous. These polymorphisms were found in 15/31 donors, with 12 being homozygous (38.7%), and 3 heterozygous (9.7%). These genes polymorphisms were POL03 y POL06. The most observed polymorphism was POL-06 with 9 cases, while POL-03 was found in 6 donors. Only sex difference and CMV status had an elevated hazard ratio for developing GVHD (HR=1.18, CI95%: 0.18 to 7.64; p=0.85) and (HR=3.0, CI95%: 0.07 to 126; p=0.46) respectively. We found no statistically significant difference in the incidence of GVHD between patients who had received cells from donor with or without a FOXP3 polymorphism (p=0.87). When we analyzed the risk of presenting GVHD, results suggest that having one of the 2 positive polymorphisms of the FOXP3 gene could have a protective effect for the patient. For POL03 HR=0.87, CI95%:0.18 to 4.14; p=0.86, and for POL06, HR=1, CI95%: 0.37 to 2.64, p=0.67. CONCLUSIONS: Even though our sample is still small to make conclusive remarks, we believe that our results point toward some level of “protection” from acute GVHD in patients receiving cells from donors expressing POL03 and POL06. It is also worthwhile mentioning the relatively high frequency of these polymorphisms, as well as the absence of the other 3.
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Pachlopnik Schmid, Jana, Roxane Lemoine, Nadine Nehme, Valéry Cormier-Daire, Patrick Revy, Franck Debeurme, Marianne Debré, et al. "Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)." Journal of Experimental Medicine 209, no. 13 (December 10, 2012): 2323–30. http://dx.doi.org/10.1084/jem.20121303.

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DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination. Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ε 1), encoding the catalytic subunit of Polε, caused facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) in a large, consanguineous family. The mutation resulted in alternative splicing in the conserved region of intron 34, which strongly decreased protein expression of Polε1 and also to a lesser extent the Polε2 subunit. We observed impairment in proliferation and G1- to S-phase progression in patients’ T lymphocytes. Polε1 depletion also impaired G1- to S-phase progression in B lymphocytes, chondrocytes, and osteoblasts. Our results evidence the developmental impact of a Polε catalytic subunit deficiency in humans and its causal relationship with a newly recognized, inherited disorder.
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TUBAU, SUSAGNA. "The asymmetric behavior of English negative quantifiers in negative sentences." Journal of Linguistics 56, no. 4 (January 15, 2020): 775–806. http://dx.doi.org/10.1017/s0022226719000495.

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In this paper, the unexpected behavior of object negative quantifiers in some diagnostic tests of sentential negation is accounted for within a Minimalist framework assuming that: (i) negative quantifiers decompose into negation and an existential quantifier; (ii) negative quantifiers are multidominant phrase markers, as Parallel Merge allows the verb to c-select their existential part but not their negative part, thus giving negation remerge flexibility; (iii) tag questions involve or-coordination of TPs, and neither/so clauses involve and-coordination of TPs; (iv) two positions for sentential negation are available in English, one below TP (PolP2), and one above TP (PolP1). Activation of either PolP1 or PolP2 in the absence of other scope-taking operators corresponds to two distinct grammars. If PolP1 is active, the negative part of an object negative quantifier remerges in its Specifier valuing the [upol: ] feature of Pol1 as negative ([upol:neg]) while skipping the TP-domain. As no negative formal feature is present in the TP, a negative question tag is required, as well as so-coordination, too-licensing and Yes, I guess so ‘expression of agreement’. Conversely, if PolP2 is active, the negative part of the object negative quantifier remerges in the TP-domain (in Spec, PolP2), thus requiring a positive question tag, neither-coordination, either-licensing, and No, I guess not.
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Shimada, Kenji, Monika Tsai-Pflugfelder, Niloofar Davoodi Vijeh Motlagh, Neda Delgoshaie, Jeannette Fuchs, Heinz Gut, and Susan M. Gasser. "The stabilized Pol31–Pol3 interface counteracts Pol32 ablation with differential effects on repair." Life Science Alliance 4, no. 9 (July 5, 2021): e202101138. http://dx.doi.org/10.26508/lsa.202101138.

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DNA polymerase δ, which contains the catalytic subunit, Pol3, Pol31, and Pol32, contributes both to DNA replication and repair. The deletion of pol31 is lethal, and compromising the Pol3–Pol31 interaction domains confers hypersensitivity to cold, hydroxyurea (HU), and methyl methanesulfonate, phenocopying pol32Δ. We have identified alanine-substitutions in pol31 that suppress these deficiencies in pol32Δ cells. We characterize two mutants, pol31-T415A and pol31-W417A, which map to a solvent-exposed loop that mediates Pol31–Pol3 and Pol31–Rev3 interactions. The pol31-T415A substitution compromises binding to the Pol3 CysB domain, whereas Pol31-W417A improves it. Importantly, loss of Pol32, such as pol31-T415A, leads to reduced Pol3 and Pol31 protein levels, which are restored by pol31-W417A. The mutations have differential effects on recovery from acute HU, break-induced replication and trans-lesion synthesis repair pathways. Unlike trans-lesion synthesis and growth on HU, the loss of break-induced replication in pol32Δ cells is not restored by pol31-W417A, highlighting pathway-specific roles for Pol32 in fork-related repair. Intriguingly, CHIP analyses of replication forks on HU showed that pol32Δ and pol31-T415A indirectly destabilize DNA pol α and pol ε at stalled forks.
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Miyabayashi, Hiroka, Hiroyuki D. Sakai, and Norio Kurosawa. "DNA Polymerase B1 Binding Protein 1 Is Important for DNA Repair by Holoenzyme PolB1 in the Extremely Thermophilic Crenarchaeon Sulfolobus acidocaldarius." Microorganisms 9, no. 2 (February 20, 2021): 439. http://dx.doi.org/10.3390/microorganisms9020439.

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DNA polymerase B1 (PolB1) is a member of the B-family DNA polymerase family and is a replicative DNA polymerase in Crenarchaea. PolB1 is responsible for the DNA replication of both the leading and lagging strands in the thermophilic crenarchaeon Sulfolobus acidocaldarius. Recently, two subunits, PolB1-binding protein (PBP)1 and PBP2, were identified in Saccharolobus solfataricus. Previous in vitro studies suggested that PBP1 and PBP2 influence the core activity of apoenzyme PolB1 (apo-PolB1). PBP1 contains a C-terminal acidic tail and modulates the strand-displacement synthesis activity of PolB1 during the synthesis of Okazaki fragments. PBP2 modestly enhances the DNA polymerase activity of apo-PolB1. These subunits are present in Sulfolobales, Acidilobales, and Desulfurococcales, which belong to Crenarchaea. However, it has not been determined whether these subunits are essential for the activity of apo-PolB1. In this study, we constructed a pbp1 deletion strain in S. acidocaldarius and characterized its phenotypes. However, a pbp2 deletion strain was not obtained, indicating that PBP2 is essential for replication by holoenzyme PolB1. A pbp1 deletion strain was sensitive to various types of DNA damage and exhibited an increased mutation rate, suggesting that PBP1 contribute to the repair or tolerance of DNA damage by holoenzyme PolB1. The results of our study suggest that PBP1 is important for DNA repair by holoenzyme PolB1 in S. acidocaldarius.
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Yao, Jianfei, Shiying Dang, Lifeng Li, Xinyi Liu, Guifeng Liu, Shifu Chen, and Lele Song. "Characteristics of POLE and POLD1 gene variations in Chinese cancer patients." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e14031-e14031. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e14031.

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e14031 Background: POLE and POLD1 gene variations have been suggested as potential markers for immunotherapy due to their significant association with the tumor mutation burden (TMB), an effective indicator for response prediction in immunotherapy. Methods: In this study, we systematically studied the spectrum and characteristics of POLE and POLD1 gene variations from 1,392 Chinese cancer patients, and their correlation with existing immunotherapeutic markers and cancer associated genes. Results: We found that the frequency of POLE variations was not statistically different from that in COSMIC database, while the frequency of POLD1 variations in Chinese lung cancer patients was significantly higher than that in COSMIC database. Variations frequency analysis showed that c.857C > G and c.2091dupC were potential high frequency variations in Chinese cancer patients. Patients carrying POLE damaging variations were significantly younger, and patients carrying POLD1 damaging variations exhibited significantly higher frequency of MSI than POLE/POLD1 WT patients. Further studies found that patients carrying POLE exonuclease domain damaging variations, POLD1 exonuclease and non-exonuclease domain damaging variations exhibited significantly higher TMB than POLE/POLD1 WT patients, while no such difference was found in patients carrying POLE and POLD1 neutral variations. Moreover, patients with POLE exonuclease domain damaging variations showed significantly higher frequency of MMR gene and driver gene variations than POLE/POLD1 WT patients, including genes associated with RTK/RAS/RAF pathway. Patients with damaging POLD1 variations also exhibited higher frequency of MMR gene variations than POLE/POLD1 WT patients. The high frequency variant genes in patients with POLE exonuclease domain damaging variations or POLD1 damaging variations were associated with MMR, RTK/RAS/RAF, TGFβ, WNT, PI3K-Akt and TP53 pathways. Conclusions: This study identified key characteristics and domains of POLE and POLD1 gene variations that related to TMB, MSI, MMR gene variations and key driver gene variations, and provided theoretical and practical basis for patient selection based on POLE or POLD1 gene status in immunotherapy.
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Tian, Junjie, Cheng Cheng, Jianguo Gao, Guanghou Fu, Zhijie Xu, Xiaoyi Chen, Yunfei Wu, and Baiye Jin. "POLD1 as a Prognostic Biomarker Correlated with Cell Proliferation and Immune Infiltration in Clear Cell Renal Cell Carcinoma." International Journal of Molecular Sciences 24, no. 7 (April 6, 2023): 6849. http://dx.doi.org/10.3390/ijms24076849.

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DNA polymerase delta 1 catalytic subunit (POLD1) plays a vital role in genomic copy with high fidelity and DNA damage repair processes. However, the prognostic value of POLD1 and its relationship with tumor immunity in clear cell renal cell carcinoma (ccRCC) remains to be further explored. Transcriptional data sets and clinical information were obtained from the TCGA, ICGC, and GEO databases. Differentially expressed genes (DEGs) were derived from the comparison between the low and high POLD1 expression groups in the TCGA–KIRC cohort. KEGG and gene ontology (GO) analyses were performed for those DEGs to explore the potential influence of POLD1 on the biological behaviors of ccRCC. The prognostic clinical value and mutational characteristics of patients were described and analyzed according to the POLD1 expression levels. TIMER and TISIDB databases were utilized to comprehensively investigate the potential relevance between the POLD1 levels and the status of the immune cells, as well as the tumor infiltration of immune cells. In addition, RT-qPCR, Western blot, immunohistochemistry and several functional and animal experiments were performed for clinical, in vitro and in vivo validation. POLD1 was highly expressed in a variety of tumors including ccRCC, and further verified in a validation cohort of 60 ccRCC samples and in vitro cell line experiments. POLD1 expression levels in the ccRCC samples were associated with various clinical characteristics including pathologic tumor stage and histologic grade. ccRCC patients with high POLD1 expression have poor clinical outcomes and exhibit a higher rate of somatic mutations than those with low POLD1 expression. Cox regression analysis also showed that POLD1 could act as a potential independent prognostic biomarker. The DEGs associated with POLD1 were significantly enriched in the immunity-related pathways. Moreover, further immune infiltration analysis indicated that high POLD1 expression was associated with high NK CD56bright cells, Treg cells, and myeloid-derived suppressor cells’ (MDSCs) infiltration scores, as well as their marker gene sets of immune cell status. Meanwhile, POLD1 exhibited resistance to various drugs when highly expressed. Finally, the knockdown of POLD1 inhibited the proliferation and migration, and promoted the apoptosis of ccRCC cells in vitro and in vivo, as well as influenced the activation of oncogenic signaling. Our current study demonstrated that POLD1 is a potential prognostic biomarker for ccRCC patients. It might create a tumor immunosuppressive microenvironment and inhibit the susceptibility to ferroptosis leading to a poor prognosis.
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Coston, Tucker, Elizabeth Mauer, Jeremy Clifton Jones, Joleen M. Hubbard, Tanios S. Bekaii-Saab, Melissa Conrad Stoppler, and Jason S. Starr. "Characterizing the genomic landscape of POLE/POLD1-mutated colorectal adenocarcinoma." Journal of Clinical Oncology 41, no. 4_suppl (February 1, 2023): 199. http://dx.doi.org/10.1200/jco.2023.41.4_suppl.199.

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199 Background: The progression of neoplasia in colorectal cancer (CRC) has been well characterized, with the evolution typically involving mutations in APC, KRAS, and p53, among others. POLE/POLD1 genes encode for proteins essential in enzymatic DNA polymerase function, yet POLE/POLD1 mutations in tumors are poorly characterized. Pathogenic mutations in POLE/POLD1 lead to decreased fidelity of DNA replication, resulting in a high tumor mutational burden (TMB-H) independent of deficient mismatch repair (dMMR) and high microsatellite instability (MSI-H). Studies have shown associations between this hypermutated phenotype and susceptibility to immune checkpoint inhibition, which may be attributable to neoantigen creation. As such, these tumors are a clinically relevant phenotype requiring further investigation. Here, we characterized POLE/POLD1 alterations in a large, real-world cohort of patients with CRC. Methods: We retrospectively analyzed de-identified records of 9,136 primary CRC patients profiled with the Tempus xT assay. The assay includes DNA-seq of 595-648 genes at 500x to evaluate single-nucleotide variants, insertions/deletions, and copy number changes. Immunological markers analyzed included tumor mutational burden (TMB), MSI, and dMMR. MSI-H was determined by the assay through assessment of 239 loci. dMMR was determined by immunohistochemistry. Results: A total of 217 patient tumors harbored somatic POLE/POLD1 mutations (n = 203 POLE, n = 13 POLD1, and n = 1 POLE and POLD1; none germline), with no differences noted in baseline demographics including gender and age. Among the POLE/POLD1-mutant cohort, POLE copy number losses accounted for most mutations (n = 127, 59%), with short variants and copy number amplifications accounting for 35% (n = 76). The remainder of tumors exhibited POLD1 copy number changes (n = 14), including one with both POLE and POLD1 copy number loss. POLE/POLD1-mutated tumors presented with a lower frequency of MSI-H compared to wild-type (1.8% vs 6.1%, P= 0.018). Conversely, there was a higher frequency of TMB-high cases ( > 10 mut/Mb) for POLE/POLD1-mutated compared to wild-type tumors (22% vs 9.9%, P< 0.001). Differences between POLE/POLD1-mutated and wild-type tumors were also observed among many co-mutated genes, including APC (80% vs 65%, P< 0.001), ALK (31% vs 11%, P< 0.001), ATM (12% vs 3.6%, P< 0.001), BRCA2 (12% vs. 3.2%), and RET (24% vs 8.9%, P< 0.001). Conclusions: Patients with POLE/POLD1 mutations exhibited significant differences across immunological markers and molecular co-alterations. POLE/POLD1 mutations in CRC have been previously described to present with a hypermutated phenotype; however, 78% of tumors exhibited low TMB despite POLE/POLD1 mutations. Thus, these results have identified POLE/POLD1-mutated tumors as a unique genomic subpopulation, and further studies are needed to better characterize POLE/POLD1 mutations in CRC.
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Jia, Yongning, Yaqun Xin, Hongling Yuan, Fei Pang, Fei Shan, Shuangxi Li, Honglin Zhu, and Ziyu Li. "Abstract 5751: Comprehensive analysis of POLE/POLD1 variants, MMR deficient/MSI, and tumor mutational burden in Chinese population." Cancer Research 82, no. 12_Supplement (June 15, 2022): 5751. http://dx.doi.org/10.1158/1538-7445.am2022-5751.

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Abstract Background: Mutations in genes encoding DNA polymerase epsilon (POLE) and delta 1 (POLD1) can lead to defects in the DNA replication, resulting in a hypermutated tumor phenotype, which might help identify potential responders to immunotherapy. This study aims to comprehensively investigate the different variants of POLE/POLD1 mutants and how it related to MSI/MMR status and TMB levels within a large Chinese population. Methods:Among 15640 Chinese patients who underwent NGS testing, the prevalence of POLE/POLD1 mutants was analyzed and the high frequencies of POLE/POLD1 variants as well as their relations with MMR/MSI and TMB were explored. Results: POLE and POLD1 mutations were highly distributed in endometrial cancer (11.1% and 9.3%), colorectal cancer (5.9% and 4.5%), and gastric cancer (4.6% and 3.3%). In our study, the mutation frequency of POLE was 3.4%, including p.Ala252Val (9.2%), p.Pro286Arg (2.7%), p.Val411Leu (1.3%), p.Asp601Glu (6.0%), p.Lys425Gln (2.9%) and p.Phe1849Val (1.8%). Variants of p.Ala252Val, p.Pro286Arg and p.Val411Leu displayed high TMB levels (median 71.4 muts/Mb, 236.7 muts/Mb and 220 muts/Mb, respectively) while variants of p.Asp601Glu, p.Lys425Gln, p.Phe1849Val and p.Asn2098His had a rather low TMB, ranging from 5.2-8.1 muts/Mb. It is worth mentioning that 37.5% of p. Pro286Arg and 87.5% of Val411Leu variants had concurrent loss-of-function mutations of MMR (MMRLOF), while MMRLOF rarely occurred in the other variants.For POLD1, the mutation frequency in Chinese patients was 2.8%, including p.Arg119His (18.8%), p.Glu57del (16.5%) and p.Asp987Thrfs (3.3%). p.Arg119His variants showed a high TMB level of 65.6 muts/Mb and most occurred in lung cancer. Variants of p.Asp987Thrfs, p.Pro116Hisfs and p.Arg19His had similar TMB levels (p&gt;0.05), while much lower TMB levels was found in p.Glu57del (3.3 muts/Mb, p&lt;0.001) compared to p.Arg119His.Compared with POLE/POLD1 wild-type (POLDE/POLD1-WT), the percentage of MSI-H samples in POLE/POLD1 mutants was much higher (14% vs 0.7, p&lt;0.001). About 10% of POLE/POLD1 mutations carried MMRLOF mutations while it was barely observed in POLE/POLD1-WT (0.5%). The TMB levels of POLE/POLD1 mutations were significantly higher than that of the POLE/POLD1-WT (17.7 vs 2.9 muts/Mb, p&lt;0.001). Furthermore, POLE/POLD1 mutations was found to be a main cause leading to high levels of TMB. Among samples with TMB &gt;10 muts/Mb, 22.6% of them were POLE/POLD1 mutations. And in samples with TMB &gt;100 muts/Mb, as high as 82% of samples were found carrying POLE/POLD1 mutations. Conclusion: POLE/POLD1 mutations were found in Chinese patients in multiple tumors. Different POLE/POLD1 variants were associated with different MMR status and TMB levels. In addition to MMR, POLE/POLD1 mutations might be another distinct means of inducing high TMB. Citation Format: Yongning Jia, Yaqun Xin, Hongling Yuan, Fei Pang, Fei Shan, Shuangxi Li, Honglin Zhu, Ziyu Li. Comprehensive analysis of POLE/POLD1 variants, MMR deficient/MSI, and tumor mutational burden in Chinese population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 5751.
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Syed, Masood Pasha, Morgan Ferrell, Svea Cheng, Cyndi Gonzalez, Richard Giza, Tara Magge, Riyue Bao, Aatur D. Singhi, Anwaar Saeed, and Ibrahim Halil Sahin. "Molecular and clinical characteristics of POLE/POLD1 alterations among patients with colorectal cancer." Journal of Clinical Oncology 42, no. 3_suppl (January 20, 2024): 184. http://dx.doi.org/10.1200/jco.2024.42.3_suppl.184.

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184 Background: POLE and POLD1 alterations (DNA polymerase ε and DNA polymerase δ) are key biomarkers of immune response for patients with MSS colorectal cancers (CRC). The clinical and molecular characteristics of POLE/POLD1 alterations are not yet well defined across CRCs. In this study, we investigated the clinical/molecular features of POLE and POLD1 alterations and its association with MSI-H CRC. Methods: All the patients and mutation data were selected from the cBioPortal database (https://www.cbioportal.org). All nonsynonymous mutations including missense, frameshift, nonsense, nonstop, splice site, and translation start site changes of POLE/POLD1 were considered. 21 studies were used in the analysis. 7179 data samples were obtained from 7179 patients. Tumors included were from all stages of CRCs. POLE/POLD1 mutations were from mutation tables, only protein-changing mutations were kept. MSI-H status was based on mutation data (presence of MLH1/PMS2/MSH2/MSH6 mutations). Results: Of 7179 patients with all stage CRCs, 6.1% (439) were found to harbor mutated POLE/POLD1 genes. Among those, 3446 patients had known MSI status and 14.9% (514/3446) had MSI-H disease. Notably, 3.3% patients with POLE/POLD1 mutations were found to have concurrent MSI-H disease (co-existence) and only 1.1% of patients with POLE/POLD1 mutations had MSS CRC. MSI status was unknown for 1.7% of patients with POLE/POLD mutant CRC. The mean age for patients with POLE/POLD1 + with or without MSI-H disease was 67. POLE/POLD mutations were exceedingly more common in colon than rectum regardless of MSI-H status (85% vs 15% overall and 88% vs 12% in MSI-H subgroup). No difference was seen among genders for the distribution of POLE/POLD1 mutations. Conclusions: POLE/POLD1 mutations frequently co-exist with MSI-H disease in CRC. Patients with MSS-CRC harboring POLE/POLD1 mutations represent a smaller subgroup of CRC (~1%). The incidence of POLE/POLD1 somatic mutations was more common among patients with colon cancer than those with rectal cancer.
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Dissertations / Theses on the topic "Pol01"

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Duigou, Stéphane. "Caractérisation génétique et fonctionnelle de PolY1 et PolY2 chez B. Subtilis." Paris 6, 2004. http://www.theses.fr/2004PA066451.

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Zhao, Lingyun. "The human POLD1 gene: Analysis of the genomic structure, promoter, and cell-cycle regulation /." The Ohio State University, 1996. http://rave.ohiolink.edu/etdc/view?acc_num=osu1487942739805756.

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Hynynen, J. (Johanna). "Status epilepticus in mitochondrial diseases and the role of POLG1 variants in the valproic-acid induced hepatotoxicity." Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526224244.

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Abstract Various genetic aetiologies — including mitochondrial diseases, chromosomal disorders, and other monogenic diseases — are involved in status epilepticus (SE), a common neurologic emergency occurring in children and adults that exhibits high rates of morbidity and mortality. The exact frequency of mitochondrial SE is currently undefined. Furthermore, patients with pathogenic variants of POLG1 encoding mitochondrial DNA polymerase gamma have an increased risk of acute liver failure (ALF) induced by the common antiepileptic drug, valproic acid (VPA), which is problematic due to these patients also often experiencing drug-resistant seizures. Overall, the role of liver transplantation (LT) in VPA-ALF due to mitochondrial disease has been controversial. In the present work, large retrospective cohort studies were conducted for two main purposes: (1) to determine the genetic aetiologies of SE among Finnish paediatric and adult patients by specifically focusing on the common mitochondrial genetic defects associated with an increased risk of SE and (2) to examine whether common POLG1 p.Q1236H and p.E1143G variants are connected to liver or pancreatic toxicity upon exposure to VPA monotherapy. This thesis also describes the characteristics of VPA-ALF associated with the pathogenic POLG1 variant p.W748S and the prognosis of LT in a retrospective case series. Mitochondrial diseases explained 4.5% of SE cases in the study cohort. Patients with mitochondrial SE suffered from refractory SE significantly more often than patients with other forms of genetic or non-genetic SE. Additionally, mortality rates were higher in patients with mitochondrial or chromosomal disorders compared with the other groups, reflecting the severity of the underlying condition and the higher frequency of refractory SE. POLG1 variants p.Q1236H and p.E1143G could not be identified as risk factors for VHT or pancreatic toxicity, implying that VPA treatment might be suitable for patients harbouring these variants when other pathogenic variants are absent. Finally, the homozygous status of the pathogenic POLG1 variant p.W748S and older age of the patient during the presentation of VPA-ALF seem to be associated with higher survival rates following LT, which should be considered in the management of VPA-ALF
Tiivistelmä Useita perinnöllisiä syitä, kuten mitokondriotauteja, kromosomihäiriöitä ja muita geenimuutoksia on tunnistettu status epilepticuksen (SE) eli pitkittyneen epileptisen kohtauksen taustalla. SE on yleinen neurologinen hätätilanne, johon liittyy merkittävää oheissairastavuutta ja kuolleisuutta sekä lapsilla että aikuisilla. Mitokondriotauteihin liittyvän SE:n tarkkaa esiintyvyyttä ei tiedetä. Potilailla, joilla on patogeenisia variantteja mitokondrioiden DNA-polymeraasia koodaavassa tuman POLG1-geenissä, on todettu kohonnut riski yleisesti käytetyn epilepsialääkkeen valproaatin (VPA) aiheuttaman akuutin maksavaurion kehittymiselle. Tämä tekee lääkehoidon valinnasta ongelmallista, koska näillä potilailla on usein epilepsialääkkeille resistenttejä kohtauksia. Maksansiirron merkitys akuutin maksavaurion hoidossa mitokondriotauteja sairastavilla potilailla on ollut kiistanalainen. Tutkimuksen tavoitteena oli selvittää SE:n perinnöllisiä syitä suomalaisilla lapsi- ja aikuispotilailla retrospektiivisesti kerätyssä laajassa potilasaineistossa. Tutkimuksessa keskityttiin yleisimpiin mitokondriaalisiin perinnöllisiin muutoksiin, joiden on aiemmin todettu liittyvän SE:n lisääntyneeseen riskiin. Tutkimuksen toisena päätavoitteena oli selvittää väestössä yleisten POLG1-geenin muutosten eli varianttien p.Q1236H ja p.E1143G yhteyttä maksatoksisuuteen tai haimatoksisuuteen VPA-monoterapian aikana. Lisäksi tutkittiin VPA:n aiheuttaman maksavaurion kliinisiä erityispiirteitä patogeeniseen POLG1-varianttiin p.W748S liittyen sekä mutaatiostatuksen vaikutusta maksansiirron jälkeiseen ennusteeseen. Mitokondriotaudit selittivät 4,5 % SE-tapauksista tämän väitöskirjatyön potilasaineistossa ja näillä potilailla SE pitkittyi hoitoresistentiksi tai erittäin resistentiksi merkitsevästi muita potilasryhmiä useammin. Kuolleisuus oli suurin potilailla, joilla todettiin mitokondriotauti tai kromosomihäiriö, liittyen todennäköisimmin vakavaan taustasairauteen ja hoitoresistentin SE:n suurempaan esiintyvyyteen. Tutkittuja POLG1-variantteja p.Q1236H ja p.E1143G ei voitu tunnistaa maksa- tai haimatoksisuuden riskitekijöiksi, mikä tarkoittaa, että VPA-hoito voisi sopia näille potilaille, mikäli muita patogeenisiä variantteja ei todeta. Patogeenisen POLG1-variantin p.W748S homotsygoottisuus ja nuoruusikä tai varhainen aikuisikä maksavaurion ajankohtana ovat maksansiirron ennustetta parantavia tekijöitä, mikä tulisi ottaa huomioon hoitopäätöksiä tehtäessä
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Hernández, Illán Eva. "Profundizando en el riesgo (epi)genético a cáncer colorrectal: Nuevos genes responsables y marcadores moleculares para el cribado." Doctoral thesis, Universidad de Alicante, 2016. http://hdl.handle.net/10045/57220.

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El cáncer colorrectal (CCR) constituye en la actualidad la neoplasia más frecuente en España. Hasta un 30% de los casos de CCR se incluyen dentro del CCR familiar y alrededor de un 3-5% se deben a mutaciones en genes de elevada penetrancia que siguen una herencia mendeliana Éstos últimos incluyen al CCR hereditario no polipósico: principalmente el Síndrome de Lynch (SL), debido a mutaciones germinales en los genes de sistema reparador de errores (MMR) MLH1, MSH2, MSH6 y PMS2; y varios síndromes polipósicos, como la poliposis adenomatosa familiar, asociada al gen APC y la poliposis asociada al gen MUTYH. En aproximadamente un 70% de los casos analizados de pacientes con sospecha de SL no se encuentran mutaciones germinales y en torno a un 10% de estos casos, con pérdida de expresión de MLH1 e hipermetilación del promotor de dicho gen en su tumor, se explican por epimutaciones constitucionales en MLH1. No obstante, la prevalencia de este fenómeno en la población general es desconocida. También existen casos de CCR con elevada carga familiar, pero sin alteración del sistema MMR, de los que se desconoce su origen genético (CCR familiar tipo X). Lo mismo ocurre para algunos casos de poliposis adenomatosa con agregación familiar, que no se explican por mutaciones en los genes APC o MUTYH. Recientemente se han descrito dos mutaciones recurrentes en los genes POLE y POLD1 (p.Leu424Val y p.Ser478Asn respectivamente) como responsables de un pequeño porcentaje de estos casos de CCR y poliposis no clasificados pero, debido a la escasez de casos descritos hasta la fecha, fenotipo clínico exacto no se ha definido. Así, los objetivos de este trabajo han sido: en primer lugar, determinar la prevalencia de las epimutaciones constitucionales en MLH1 como una causa de SL en una serie no seleccionada de CCR y compararla con la prevalencia de este fenómeno en una serie seleccionada; y en segundo lugar, analizar la prevalencia de las mutaciones recurrentes en los genes POLE y POLD1 en casos de CCR y poliposis familiar de aparición temprana, sin mutación en los genes responsables de los síndromes de sospecha, y así contribuir a definir el fenotipo clínico asociado a las mutaciones en dichos genes. Se evaluó la prevalencia de epimutaciones constitucionales de MLH1 en una cohorte de CCR no seleccionado, y se comparó con una cohorte de CCR familiar seleccionado. Así, no se detectaron epimutaciones constitucionales en MLH1 en la población no seleccionada. No obstante, el 15,6% de la serie seleccionada fueron positivos para epimutaciones en MLH1. Por otro lado, se realizó la búsqueda de mutaciones recurrentes en POLE y POLD1 en casos de CCR y/o poliposis familiar mediante ensayos de genotipado KASPar y/o secuenciación Sanger. Se identificó la mutación POLE_p.Leu424Val como mutación de novo, ningún caso presentó la mutación POLD1_p.Ser478Asn, pero se identificó una nueva mutación en POLD1: p.Leu474Pro, con patogenicidad sustentada mediante diversas aproximaciones, en una familia de CCR familiar tipo X con también casos de cáncer de endometrio. Así, estos resultados sugieren una prevalencia insignificante de epimutaciones constitucionales en MLH1 en cohortes no seleccionadas de CCR. Así, el análisis de epimutación constitucional en MLH1 debería dirigirse exclusivamente a pacientes que cumplen los criterios revisados de Bethesda y cuyo tumor presente pérdida de expresión y metilación de MLH1. Por otro lado, las mutaciones en POLE y POLD1 explican una pequeña proporción de casos de CCR y poliposis familiar. La secuenciación de al menos estas mutaciones recurrentes debería considerarse en el diagnóstico genético rutinario de los casos con sospecha de CCR o poliposis hereditarios, sin mutaciones en los genes de sospecha clásicos.
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Hocke, Sandra [Verfasser], and Andreas [Akademischer Betreuer] Herbst. "A synthetic lethal screen identifies ATR-inhibition as a novel therapeutic approach for POLD1-deficient cancers / Sandra Hocke ; Betreuer: Andreas Herbst." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2016. http://d-nb.info/1115144723/34.

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Dos, Santos Afonso Emmanuel José. "Déterminants moléculaires de la spécificité d'espèce portés par le complexe polymérase des virus grippaux de type A." Paris 7, 2006. http://www.theses.fr/2006PA077002.

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En règle générale les virus grippaux aviaires ne se multiplient pas chez l'homme. Cependant, leur transmission et leur adaptation à l'homme peut donner lieu à des pandémies dévastatrices, comme en 1918. Nous avons observé que le défaut d'activité de complexes polymérases dérivés de virus aviaires dans des cellules de mammifères était déterminé principalement par la sous-unité PB2 du complexe, et lié à un défaut d'association avec la nucléoprotéine virale. Dans leur ensemble, les résultats obtenus suggèrent que la protéine PB2 pourrait jouer un rôle déterminant dans les phénomènes de restriction d'hôte de par sa position au coeur d'interactions moléculaires mettant en jeu à la fois la nucléoprotéine et un ou plusieurs facteurs cellulaires. Ces données nous ont incités à rechercher les interacteurs cellulaires du complexe polymérase, et en particulier ceux qui sont déterminants vis-à-vis du potentiel de multiplication des virus grippaux chez l'homme. Dans ce but, nous avons produit par génétique inverse un virus grippal exprimant une protéine PB2 fusionnée à l'étiquette de purification « One-STrEP-tag », ce qui nous a conduit à cartographier les signaux nécessaires à l'emballage du segment PB2. A partir d'extraits de cellules infectées, des protéines cellulaires ont été co-purifiées avec le complexe polymérase et sont en cours d'identification par spectrométrie de masse. En complément de cette approche biochimique, des interacteurs du complexe polymérase ont été recherchés par la méthode du double-hybride dans la levure. L'importance fonctionnelle des protéines identifiées par l'une ou l'autre des approches reste à évaluer dans le contexte du cycle de réplication virale
Avian influenza A viruses usually do not replicate efficiently or cause disease in humans. However, adaptation to humans may occur and resuit in a devastating influenza pandemie, as was the case in 1918. There is growing evidence that the viral RNA polymerase complex is involved in host restriction. We observed that in human cells, polymerase complexes of avian origin showed reduced transcription/replication activity as compared to polymerase complexes of human origin. This defect was determined mainly by the PB2 sub-unit of the complex, and was related to a defect in binding to the viral nucleoprotein. Taken together, our data suggest that PB2 could be a major determinant of host-range due to its pivotal role in molecular interactions involving both the viral nucleoprotein and cellular proteins. These data prompted us to search for cellular factors interacting with the polymerase complex, and possibly involved in host restriction. To this end, we generated recombinant influenza A viruses expressing a PB2 protein tagged with the « One-STrEP-tag » purification tag, which led us to the mapping of packaging signals on the PB2 segment. Cellular factors were co-purified with the polymerase complex from infected cells extracts, and are being identified using mass spectrometry analysis. In addition to the biochemical approach, the yeast two-hybrid method was used to identify cellular partners of the viral polymerase complex. The functional role of the proteins identified by one or the other approach remains to be determined in the context of the viral life cycle
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Grob, Alice. "Rôle de SIRT7 dans la biogenèse des ribosomes." Paris 7, 2009. http://www.theses.fr/2009PA077007.

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Les sirtuines sont des desacetylases impliquées dans la régulation du cycle cellulaire, la réparation de l'ADN, la stabilité génomique, la réponse au stress ainsi que l'expression génique. Au cours de ce travail, nous avons voulu comprendre le rôle de SIRT7, la sirtuine nucléolaire humaine, dans la biogenèse des ribosomes. Pour cela, nous avons analysé la régulation et la fonction de SIRT7 au cours du cycle cellulaire. Tout au long du cycle, SIRT7 colocalise avec la machinerie de transcription des gènes ribosomiques (ADNr). De plus, comme certains composants de cette machinerie, SIRT7 est phosphorylée en mitose par la voie CDK1-cycline B. En sortie de mitose, la déphosphorylation de SIRT7 induit un changement conformationnel de la région carboxy-terminale de SIRT7 qui est préalable à la réactivation de la transcription des ADNr. Nous avons également mis en évidence que l'activité de SIRT7 est requise pour réactiver la transcription des ADNr en télophase. Nous proposons donc que le changement conformationnel de SIRT7 puisse réguler cette réactivation. Concernant le mécanisme d'action de SIRT7, la recherche des partenaires de SIRT7 a révélé son interaction à la fois avec la machinerie de transcription des ADNr par l'intermédiaire du facteur UBF, ainsi qu'avec la machinerie de maturation précoce des ARN ribosomiques (ARNr) par l'intermédiaire des facteurs fibrillarine et Nop56. L'analyse des ARNr confirme un rôle de SIRT7 dans la régulation à la fois de la transcription et de la maturation des ARNr. Ces résultats suggèrent que SIRT7 puisse être impliquée dans la coordination de ces deux étapes clefs de la biogenèse des ribosomes
Sirtuins are desacetylases involved in cell cycle regulation, DNA repair, genome stability, stress response and gene expression. Here, we investigated the role of SIRT7, the human nucleolar sirtuine, in ribosomes biogenesis. For this purpose, we analysed the regulation and function of SIRT7 during the cell cycle. Throughout the cell cycle, SIRT7 colocalises with the transcription machinery of the ribosomal gene (rDNA). Moreover, SIRT7 is phosphorylated during mitosis by the CDK1-cyclin B pathway, as are several components of this machinery. At the exit from mitosis, dephosphorylation of SIRT7 induces a conformational modification of the carboxy-terminal region of SIRT7 prior to reactivation of rDNA transcription. We also demonstrated that SIRT7 activity is required to reactivate rDNA transcription at telophase. Thus, we propose that the conformational change of SIRT7 regulates the onset of rDNA transcription. Concerning the function of SIRT7, the analysis of the partners of SIRT7'revealed the interaction of SIRT7 both with the rDNA transcription machinery, via UBF and with the ribosomal RNA (rRNA) early maturation machinery, via fibrillarin and Nop56. RRNA analysis confirmed a role of SIRT7 in the regulation of the transcription and the maturation of rRNA. These results suggest that SIRT7 could be implicated in the coordination of these two steps of ribosome biogenesis
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Komulainen, T. (Tuomas). "Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity." Doctoral thesis, Oulun yliopisto, 2015. http://urn.fi/urn:isbn:9789526207230.

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Abstract Mitochondrial DNA depletion and deletions are related to mutations in the nuclear genes responsible for replication and maintenance of mitochondrial DNA (mtDNA). The POLG1 gene encodes the enzyme responsible for replication of mtDNA. A particular feature of the POLG1 mutations is an increased risk of acute liver failure (ALF) upon exposure to sodium valproate (VPA), but the pathomechanism is not resolved. The present work studies the molecular genetic aetiology and clinical phenotypes associated with mtDNA depletion and deletion. Another objective was an investigation of clinical phenotypes in POLG1 mutations and disentangling the pathomechanism of VPA-induced ALF in POLG1 mutations. Mitochondrial toxicity of VPA was examined using HepG2 cells as an experimental in vitro model. In this work, mtDNA depletion was associated with severe neonatal-onset encephalopathy. Furthermore, mtDNA depletion was found in muscle dystrophy as a secondary finding to muscle degradation. Multiple mitochondrial DNA deletions were found in two patients with Kearns-Sayre syndrome suggesting a genetic origin of the disease. POLG1 p.R722H mutation has been previously reported as a neutral polymorphism, but we found evidence suggesting that POLG1 p.R722H could be a pathogenic mutation in a homozygous or compound heterozygous state. We identified retrospectively five patients, who required liver transplant after VPA-induced ALF. All five patients harboured POLG1 mutations supporting the evidence of POLG1 mutations as a risk factor for VPA-induced ALF. Previously, patients with POLG1 mutations have been considered unsuitable for liver transplantation, but we found that homozygous POLG1 mutations and adolescent or adult-onset disease predicted a good outcome following liver transplantation. In vitro studies on HepG2 cells showed that VPA disturbs mitochondrial respiration. Our results expand the phenotypes and molecular genetic features in mitochondrial DNA depletion and deletion syndromes. We found evidence that POLG1 mutations are not a contraindication for liver transplantation; rather, mutation status and age at onset affect survival. This finding should be taken in consideration in the treatment of VPA-induced ALF. Furthermore, our findings indicate that sodium valproate is toxic to mitochondria and should be avoided in patients with mitochondrial disease
Tiivistelmä Mitokondrion DNA:n (mtDNA) kahdentumisesta ja ylläpidosta vastaavien tuman geenien mutaatiot voivat johtaa mtDNA:n määrän vähenemiseen (depleetioon) ja katkoksiin (deleetioihin). MtDNA:n kahdentumisesta vastaavaa entsyymiä koodaa tuman POLG1-geeni. POLG1-mutaatioihin liittyy kohonnut riski sairastua natriumvalproaatin (VPA) aiheuttamaan akuuttiin maksavaurioon. Tutkimuksen tavoitteena oli tutkia mtDNA:n depleetion ja deleetioiden molekyyligeneettistä etiologiaa ja kliinisiä taudinkuvia. Tutkimuksessa selvitettiin myös POLG1-mutaatioihin liittyviä taudinkuvia ja POLG1-mutaatioihin liittyvän akuutin maksavaurion patomekanismia. VPA:n vaikutusta mitokondrioiden toimintaan tutkittiin in vitro HepG2-solumallissa. Tutkimuksessa todettiin mtDNA:n depleetion liittyvän vaikeaan varhain alkavaan aivosairauteen. Depleetio todettiin myös sekundaarisena merosiini-negatiivisessa lihasdystrofiassa. Kahdella Kearns-Sayren syndroomaa sairastavalla potilaalla todettiin multippelit mtDNA:n deleetiot, mikä viittaa syndrooman geneettisen alkuperään. POLG1 p.R722H-mutaatiota on aiemmin pidetty neutraalina polymorfiana, mutta tutkimuksen tulokset viittasivat siihen, että homotsygoottisena tai yhdistelmäheterotsygoottisena mutaatio on tautia aiheuttava. Helsingin yliopistollisen sairaalan elinsiirtorekisteristä tunnistettiin retrospektiivisesti viisi potilasta, jotka olivat saaneet maksansiirteen VPA:n aiheuttaman maksavaurion vuoksi. Kaikilla viidellä potilaalla todettiin POLG1-geenin mutaatio, mikä vahvistaa käsitystä geenin yhteydestä VPA:n aiheuttamaan maksavaurioon. POLG1-mutaatioita on pidetty vasta-aiheena maksansiirrolle, mutta tutkimuksessa todettiin homotsygoottisena esiintyvän POLG1-mutaation ja nuoruusiällä tai varhaisella aikuisiällä alkaneen taudin liittyvän parempaan maksansiirron jälkeiseen ennusteeseen. HepG2-solumallilla tehdyt tutkimukset osoittivat VPA:n haittaavan mitokondrioiden solyhengitystä. Tutkimuksen tulokset tuovat lisätietoa mtDNA:n depleetioon ja deleetioihin liittyvistä taudinkuvista ja molekyyligeneettisestä taustasta. POLG1-mutaatiot eivät ole ehdoton vasta-aihe maksansiirrolle; potilaan geneettinen status ja ikä taudin alkamishetkellä vaikuttavat ennusteeseen, mikä tulisi huomioida potilaiden hoidossa. Tulokset myös osoittivat VPA:n olevan mitokondriotoksinen lääke, jonka käyttöä tulisi välttää mitokondriotautipotilaiden hoidossa
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Fütterer, Nancy [Verfasser], Peter J. K. [Akademischer Betreuer] Freisinger, Thomas Alois [Akademischer Betreuer] Meitinger, and Stefan [Akademischer Betreuer] Burdach. "Mitochondriale hepatozerebrale Syndrome im Kindesalter - mtDNA Depletion und Mutationen im POLG1- bzw. DGUOK- Gen als mögliche Pathogenese / Nancy Fütterer. Gutachter: Thomas Alois Meitinger ; Stefan Burdach ; Peter J. K. Freisinger. Betreuer: Peter J. K. Freisinger." München : Universitätsbibliothek der TU München, 2013. http://d-nb.info/1043041753/34.

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Efthimiopoulos, Georgia. "Bypass of N2-Deoxyguanosinyl Adducts by DNA Polymerases and Kinetic Implications for Polymerase Switching." The Ohio State University, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=osu1366297865.

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Books on the topic "Pol01"

1

Talal Asad; Wendy Brown; Judith Butler; Saba Mahmood. Is Critique Secular? Fordham University Press, 2013.

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Nccls. Physician's Office Laboratory Guidelines (Pol1-T2). NCCLC, 1993.

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NA. Creatd Equal Soc & Polv1& from from Begn V1&. Addison Wesley Publishing Company, 2006.

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NA. Amer Democ Republc Peng& CA Govt& Pol06-07 Pk. Addison Wesley Publishing Company, 2006.

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Book chapters on the topic "Pol01"

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Kasper, Gabriele. "Politeness." In Handbook of Pragmatics, 1–20. Amsterdam: John Benjamins Publishing Company, 1997. http://dx.doi.org/10.1075/hop.2.pol1.

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Gagnon, Chantal. "Political translation." In Handbook of Translation Studies, 252–56. Amsterdam: John Benjamins Publishing Company, 2010. http://dx.doi.org/10.1075/hts.1.pol1.

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Thiffault, Isabelle, Carol Saunders, Nikita Raje, and Nicole P. Safina. "Clinical Presentation of Polymerase E1 (POLE1) and Polymerase E2 (POLE2) Deficiencies." In Encyclopedia of Medical Immunology, 182–87. New York, NY: Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_181.

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Thiffault, Isabelle, Carol Saunders, Nikita Raje, and Nicole P. Safina. "Clinical Presentation of Polymerase E1 (POLE1) and Polymerase E2 (POLE2) Deficiencies." In Encyclopedia of Medical Immunology, 1–6. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-9209-2_181-1.

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Naess, Karin, Michela Barbaro, Helene Bruhn, Rolf Wibom, Inger Nennesmo, Ulrika von Döbeln, Nils-Göran Larsson, Antal Nemeth, and Nicole Lesko. "Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome." In JIMD Reports, 67–73. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_73.

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Brinjikji, Waleed, Jerry W. Swanson, Carrie Zabel, Peter J. Dyck, Jennifer A. Tracy, and Ralitza H. Gavrilova. "Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene." In JIMD Reports, 89–96. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/8904_2011_22.

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Baldacci, G., D. Bouvier, V. Damagnez, G. Pignède, and A.-M. de Recondo. "The POL1 and POL3 DNA Synthesis Genes in Fission Yeast Schizosaccharomyces pombe." In DNA Replication: The Regulatory Mechanisms, 261–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76988-7_24.

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Rahbar, Amene, Naeimeh Bahri-Laleh, Sevda Dehghani, and Mehdi Nekoomanesh. "Fractionation of Poly1-Decene Based Oil Synthesized with AlCl3/Ethanol Cationic Catalyst in the Presence of Toluene Solvent." In Eco-friendly and Smart Polymer Systems, 67–70. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-45085-4_17.

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"POLE1." In Encyclopedia of Medical Immunology, 543. New York, NY: Springer New York, 2020. http://dx.doi.org/10.1007/978-1-4614-8678-7_300289.

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Gagnon, Chantal. "Political translation." In Handbook of Translation Studies Online. Amsterdam: John Benjamins Publishing Company, 2016. http://dx.doi.org/10.1075/hts.2016.pol1.

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Conference papers on the topic "Pol01"

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Pisano, Claudio, Lucio Merlini, Sergio Penco, Raffaella Cincinelli, Nadine Darwiche, Mario B. Guglielmi, Ilaria La Porta, et al. "Abstract 4848: Preclinical antitumor activity of novelDNA polymerase 1 (POLA1)inhibitors." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-4848.

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Akizuki, Yuki, and Masayuki Osumi. "IMPROVEMENT OF COLOR APPEARANCE OF URETHANE SKIN SAMPLES BY USING COMPUTER COLOR MATCHING METHOD." In Proceedings of the 29th Quadrennial Session of the CIE. International Commission on Illumination, CIE, 2019. http://dx.doi.org/10.25039/x46.2019.po001.

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Osumi, Masayuki. "EVALUATION WAY OF EFFECT COATINGS APPLYING GONIO-PHOTOMETRIC SPECTRAL IMAGING." In Proceedings of the 29th Quadrennial Session of the CIE. International Commission on Illumination, CIE, 2019. http://dx.doi.org/10.25039/x46.2019.po101.

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Nilsson Tengelin, M., S. Källberg, M. Lindgren, and S. Ebenhag. "ACCURATE MEASUREMENT OF DRIVERS’ REACTION TIMES IN THREE DIFFERENT ROAD LIGHTING SETTINGS." In CIE 2023 Conference. International Commission on Illumination, CIE, 2023. http://dx.doi.org/10.25039/x50.2023.po001.

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Abstract:
This paper presents a study on the measurements the reaction time of a car drivers and how this reaction time is influenced by the road lighting. Three different road lighting settings (two with constant output but different light levels and one modulated) were tested in the city area of the car test track AstaZero. Suddenly appearing targets placed along the track were used to trigger a response to brake. The reaction time was measured by time stamped recordings of the target movement and brake pedal pressure. Release of the gas pedal was also recorded, and time stamped. 40 research persons drove 12 laps each, one driver at the time, where the lighting setting and which target would appear was altered between each lap. Each road lighting setting was selected four times in a randomized order. Preliminary analysis of the reaction time data indicates no influence of the modulated lighting on the reaction time but a slight tendency that the reaction times are increased with a lower light level.
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Esposito, Tony. "COLOUR DISCRIMINATION MAY BE HUE AGNOSTIC: A PILOT STUDY." In CIE 2017 Midterm Meetings and Conference on Smarter Lighting for Better Life. International Commission on Illumination, CIE, 2018. http://dx.doi.org/10.25039/x44.2017.po01.

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Chen, Yi-Chun, Meng-Shao Lin, Ting-Yuan Huang, and Erik C. Chang. "ILLUMINATION CONTROL MODEL FOR COMFORTABLE INDOOR READING." In CIE 2018. International Commission on Illumination, CIE, 2018. http://dx.doi.org/10.25039/x45.2018.po01.

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Ding, Jason, and Nihir Patel. "Abstract PO001: Association of DNA repair genes with tumor mutational burden and microsatellite instability." In Abstracts: AACR Virtual Special Conference: Endometrial Cancer: New Biology Driving Research and Treatment; November 9-10, 2020. American Association for Cancer Research, 2021. http://dx.doi.org/10.1158/1557-3265.endomet20-po001.

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Job, A., C. Schäfer, M. Buchholz, TM Gress, and E. Gallmeier. "POLD1-Mutationen als prädiktiver Marker für das Ansprechen auf ATR-Inhibitoren in gastrointestinalen Tumoren." In Viszeralmedizin 2017. Georg Thieme Verlag KG, 2017. http://dx.doi.org/10.1055/s-0037-1604871.

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Dong, Hua, Yuezong Bai, Xinkai Cao, Yanyan Wang, Lin Shi, Fugen Li, Yizhou Ye, and Shuyang Sun. "Abstract 5137: Comprehensive analysis of POLE and POLD1 mutation in 9322 Chinese cancer patients." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-5137.

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Dong, Hua, Yuezong Bai, Xinkai Cao, Yanyan Wang, Lin Shi, Fugen Li, Yizhou Ye, and Shuyang Sun. "Abstract 5137: Comprehensive analysis of POLE and POLD1 mutation in 9322 Chinese cancer patients." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-5137.

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