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Articles de revues sur le sujet « Ts polymorphism »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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1

Kim, Jung Oh, Han Sung Park, Eun Ju Ko, et al. "The 3′-UTR Polymorphisms in the Thymidylate Synthase (TS) Gene Associated with the Risk of Ischemic Stroke and Silent Brain Infarction." Journal of Personalized Medicine 11, no. 3 (2021): 200. http://dx.doi.org/10.3390/jpm11030200.

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Thymidylate synthase (TS) is a key gene involved in the repair of DNA damage and DNA synthesis that plays an important role in vascular development and recovery. In particular, TS gene polymorphisms play a major role in the progression of vascular disease and cancer metastasis. Therefore, the aim of this study was to investigate the association of three TS polymorphisms (1100T>C [rs699517], 1170A>G [rs2790], and 1494ins/del [rs151264360]) with ischemic stroke and silent brain infarction (SBI) in Koreans. A total of 1299 participants (507 stroke patients, 383 SBI patients, and 409 control

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Ugrasena, I. Dewa Gede, Harianto Notopuro, Subijanto Marto Sudarmo, Ketut Sudiana, Djajadiman Gatot, and Ponpon Idjradinata. "MTHFR C677T and TS 5’-UTR 3R/3R Gene Polymorphism in Methotrexate-Resistant Childhood Acute Lymphoblastic Leukemia." Indonesian Biomedical Journal 12, no. 2 (2020): 177–82. http://dx.doi.org/10.18585/inabj.v12i2.1109.

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BACKGROUND: Childhood acute lymphoblastic leukemia (ALL) is the most common pediatric malignancy in Indonesia and often treated by methotrexate (MTX). Though it can be cured in 30-60% of patients, MTX resistance remains the major cause of treatment failure in childhood ALL. Previous sudies showed that its anti-leukemic property was moderated by MTX ability to inhibitmethylene tetra hydrofolate reductase (MTHFR) and thymidylate synthase (TS) in folate metabolism. This study investigates the correlation between MTHFR and TS polymorphism and MTX resistance in ALL children.METHODS: A total of 155

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Chen, Jin-Yin, He-Jian Chen, and Pei-Feng Chen. "Association of expression and genotypes of thymidylate synthase in non-small cell lung cancer patients with different clinicopathological characteristics." Pteridines 32, no. 1 (2021): 39–47. http://dx.doi.org/10.1515/pteridines-2020-0013.

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Abstract Objective To explore the expression and genotypes of thymidylate synthase (TS) in patients of non-small cell lung cancer (NSCLC) with different clinicopathological characteristics. Methods The expression profiles of TS were examined by immunohistochemical staining and quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) in 160 patients with NSCLC. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect TS-5′UTR tandem repeats, G/C nucleotide polymorphisms, and 3′UTR 6 bp deletion/insertion polymorphisms. The relation

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Fariña-Sarasqueta, A., M. J. E. M. Gosens, E. Moerland, et al. "TS Gene Polymorphisms Are Not Good Markers of Response to 5-FU Therapy in Stage III Colon Cancer Patients." Analytical Cellular Pathology 33, no. 1 (2010): 1–11. http://dx.doi.org/10.1155/2010/731873.

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Aim: Although the predictive and prognostic value of thymidylate synthase (TS) expression and gene polymorphism in colon cancer has been widely studied, the results are inconclusive probably because of methodological differences. With this study, we aimed to elucidate the role of TS gene polymorphisms genotyping in therapy response in stage III colon carcinoma patients treated with 5-FU adjuvant chemotherapy.Patients and Methods: 251 patients diagnosed with stage III colon carcinoma treated with surgery followed by 5-FU based adjuvant therapy were selected. The variable number of tandem repeat

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Villafranca, Elena, Yury Okruzhnov, Miguel A. Dominguez, et al. "Polymorphisms of the Repeated Sequences in the Enhancer Region of the Thymidylate Synthase Gene Promoter May Predict Downstaging After Preoperative Chemoradiation in Rectal Cancer." Journal of Clinical Oncology 19, no. 6 (2001): 1779–86. http://dx.doi.org/10.1200/jco.2001.19.6.1779.

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PURPOSE: Thymidylate synthase (TS) is an important target enzyme for the fluoropyrimidines. TS gene promoter possesses regulatory tandemly repeated (TR) sequences that are polymorphic in humans, depending on ethnic factors. These polymorphisms have been reported to influence TS expression. TS expression levels affect tumor downstaging after preoperative fluoruracil (5-FU)–based chemoradiation. Tumor downstaging correlates with improved local control and disease-free survival. The aim of this study is to correlate TR polymorphisms with downstaging and disease-free survival. PATIENTS AND METHODS

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Ugrasena, IDG, Sutaryo Sutaryo, Edy Supriadi, et al. "High frequency of the 3R/3R polymorphism in the thymidylate synthase enhancer region in Indonesian childhood acute lymphoblastic leukemia." Paediatrica Indonesiana 46, no. 3 (2016): 103. http://dx.doi.org/10.14238/pi46.3.2006.103-12.

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Background Deoxyuridylate monophosphate (dTMP) is neces-sary for DNA synthesis and thymidylate synthase (TS) is an im-portant target of cancer chemotherapy. Ethnic variations of thepolymorphic tandem repeat sequence in the enhancer region ofthe TS promoter has previously been described to influence theoutcome of acute lymphoblastic leukemia (ALL). A triple repeat isassociated with a higher TS gene expression than a double re-peat, resulting in poorer outcome of ALL patients treated with anti-folate methotrexate (MTX).Objective In this study, we determined the incidences of TS andmethylenetetra

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Ichikawa, W., T. Takahashi, and Y. Sasaki. "Pharmacogenetic profiling and clinical outcome of patients (pts) with advanced gastric cancer (AGC) treated with S-1 monotherapy." Journal of Clinical Oncology 25, no. 18_suppl (2007): 4600. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.4600.

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4600 Background: Intra-tumor gene expressions of thymidylate synthase (TS) and orotate phosphoribosyltranseferase (OPRT) have been indicated to be positive predictive markers for the clinical outcome of pts treated by S-1 monotherapy for AGC (Int J Cancer 119:1245,2006). The aim of this study is to investigate whether polymorphisms with putative influence on S-1 activity are associated with clinical outcomes of pts with AGC. Patients and Methods: The study population consisted of consecutive 55 pts with AGC from 01/1999 to 03/2002 in our institute. All patients homogenously received the S-1 mo

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Kim, Jung Oh, Chang Soo Ryu, Jeong Yong Lee, et al. "Association of Thymidylate Synthase (TS) Gene Polymorphisms with Incidence and Prognosis of Coronary Artery Disease." International Journal of Molecular Sciences 24, no. 16 (2023): 12591. http://dx.doi.org/10.3390/ijms241612591.

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Coronary artery disease (CAD) is a prevalent cardiovascular condition characterized by the accumulation of plaque within coronary arteries. While distinct features of CAD have been reported, the association between genetic factors and CAD in terms of biomarkers was insufficient. This study aimed to investigate the connection between genetic factors and CAD, focusing on the thymidylate synthase (TS) gene, a gene involved in DNA synthesis and one-carbon metabolism. TS plays a critical role in maintaining the deoxythymidine monophosphate (dTMP) pool, which is essential for DNA replication and rep

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Mulder, K. E., C. A. Butts, A. Scarfe, et al. "A prospective pharmacogenetic study of thymidylate synthase (TS) polymorphisms in high risk stage II or stage III colon cancer patients treated with 5-fluorouracil (5-FU) and leucovorin (LV)." Journal of Clinical Oncology 24, no. 18_suppl (2006): 13018. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.13018.

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13018 Background: Retrospective studies suggest TS polymorphisms predict toxicity from TS inhibitors as well as therapeutic response. The TS promoter has a variable number of tandem repeats (VNTR) polymorphism containing putative E-box binding sites that bind upstream stimulatory factor (USF) -1 and -2. One E-box binding site exists in TSER*2 and 2 binding sites exist in TSER*3. A single nucleotide polymorphism (SNP) at position 12 (G→C) in TSER*3’s 2nd repeat abolishes binding of USF-1/2. Combined effects of VNTR and SNP means individuals may have 2, 3 or 4 enhancer regions. We hypothesized t

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Knop, Stefan, Juergen Loeffler, Michael Steffens, et al. "Polymorphisms in Genes of Folate Metabolism and Response to High-Dose Methotrexate in Patients with Primary Central Nervous System Lymphoma." Blood 106, no. 11 (2005): 4439. http://dx.doi.org/10.1182/blood.v106.11.4439.4439.

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Abstract The antifolate methotrexate (MTX) was shown to be the single most-effective agent in first-line treatment of patients with primary central nervous system lymphoma (PCNSL) when given intravenously in high doses. MTX inhibits 5,10-methylentetrahydrofolate reductase (MTHFR) as well as thymidylate synthase (TS) in target cells what eventually results in decreased DNA synthesis. Intracellular uptake of both folate and MTX is mediated by the reduced folate carrier (RFC). Genetic polymorphisms for all three proteins were described: a C to T base transition at nucleotide 667 (C677T) and an A

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Jeon, Young-Joo, Sung-Hwan Cho, Eo-Jin Kim, et al. "3′-UTR Polymorphisms in Thymidylate Synthase with Colorectal Cancer Prevalence and Prognosis." Journal of Personalized Medicine 11, no. 6 (2021): 537. http://dx.doi.org/10.3390/jpm11060537.

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Colorectal cancer (CRC) is the third most common type of cancer and the second leading cause of cancer-related mortality in Western countries. Polymorphisms in one-carbon metabolism and angiogenesis-related genes have been shown to play important roles in tumor development, progression, and metastasis for many cancers, including CRC. Moreover, recent studies have reported that polymorphisms in specific microRNA (miRNA)-binding regions, which are located in the 3′-untranslated region (UTR) of miRNA-regulated genes, are present in a variety of cancers. Here, we investigated the association betwe

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Takeda, R., T. Kamano, K. Sakamoto, et al. "Methylenetetrahydrofolate Reductase C677T is Not Associated with Expression of Pyrimidine Metabolic Enzyme Genes in Colorectal Cancer." Journal of International Medical Research 34, no. 3 (2006): 307–15. http://dx.doi.org/10.1177/147323000603400311.

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Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may influence the chemosensitivity of colorectal cancers to fluorouracil (5-FU) by increasing intracellular 5, 10-methylenetetrahydrofolate. The effect of this polymorphism on the expression of thymidylate synthase (TS), dihydropyrimidine dehydrogenase (DPD), orotate phosphoribosyl transferase (OPRT) and thymidine phosphorylase (TP) in colorectal cancer was investigated. The MTHFR C677T polymorphism was analysed and TS, DPD, OPRT and TP mRNA expression was measured in tumour and adjacent normal mucosal tissue. In all patients, the

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Etienne, Marie-Christine, Maurice Chazal, Pierre Laurent-Puig, et al. "Prognostic Value of Tumoral Thymidylate Synthase and p53 in Metastatic Colorectal Cancer Patients Receiving Fluorouracil-Based Chemotherapy: Phenotypic and Genotypic Analyses." Journal of Clinical Oncology 20, no. 12 (2002): 2832–43. http://dx.doi.org/10.1200/jco.2002.09.091.

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PURPOSE: The aim of this multicenter prospective study was to evaluate the role of intratumoral parameters related to fluorouracil (FU) sensitivity in 103 metastatic colorectal cancer patients receiving FU–folinic acid. PATIENTS AND METHODS: Liver metastatic biopsy specimens were obtained for all patients and primary tumor biopsy specimens for 54 patients. Thymidylate synthase (TS), folylpolyglutamate synthetase, and dihydropyrimidine dehydrogenase were measured by radioenzymatic assays; TS promoter polymorphism (2R/2R v 2R/3R v 3R/3R) was determined by polymerase chain reaction; and p53 prote

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Goekkurt, Eray, Salah-Eddin Al-Batran, Jörg T. Hartmann, et al. "Pharmacogenetic Analyses of a Phase III Trial in Metastatic Gastroesophageal Adenocarcinoma With Fluorouracil and Leucovorin Plus Either Oxaliplatin or Cisplatin: A Study of the Arbeitsgemeinschaft Internistische Onkologie." Journal of Clinical Oncology 27, no. 17 (2009): 2863–73. http://dx.doi.org/10.1200/jco.2008.19.1718.

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PurposeTo evaluate the association of germ-line polymorphisms of genes that may impact treatment outcome of platinum and fluorouracil combination chemotherapy in advanced gastric cancer (AGC).Patients and MethodsBlood samples of 156 patients enrolled onto a phase III study comparing fluorouracil, leucovorin, and oxaliplatin with fluorouracil, leucovorin, and cisplatin were collected. Polymorphisms within genes of TS, MTHFR, MTR, OPRT, XPD, ERCC1, XRCC1, XPA, GSTP1, GSTT1, and GSTM1 were genotyped using polymerase chain reaction–based techniques.ResultsMedian overall survival (OS) was 11.8 mont

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Jankovic, Radmila, Milena Cavic, Ana Krivokuca, et al. "Gene polymorphisms of folate metabolizing enzymes and susceptibility to lung adenocarcinoma in Serbia." Journal of Clinical Oncology 30, no. 15_suppl (2012): e12020-e12020. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e12020.

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e12020 Background: Methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase (TS) are important enzymes of the folate metabolism and are suggested as new prognostic factors for lung cancer. Cytosine to thymine transition at nucleotide 677 (C677T) leads to reduced MTHFR activity. The TS promoter has a tandem repeat polymorphism (2R, 3R) and a guanine to cytosine transition in the 3R allele related to TS protein expression. The aim of this study was to analyze the association of MTHFR and TS polymorphisms with lung adenocarcinoma in Serbia. Methods: A case-control study including 55 l

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Romkes, M., T. M. Feinstein, S. Zhong, et al. "TS and MTHFR gene polymorphisms in patients (pts) with recurrent or metastatic squamous cell carcinoma of the head or neck (SCCHN) treated with pemetrexed (P) and bevacizumab (B)." Journal of Clinical Oncology 27, no. 15_suppl (2009): e17011-e17011. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e17011.

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e17011 Background: P inhibits multiple enzymes in folate metabolism. We examined polymorphisms in thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) in patients with SCCHN treated in a phase II clinical trial with P and B (ASCO 2008; A6069). Methods: All pts were treated with P 500 mg/m2 and B 15 mg/kg, given IV every 21 days until progression. Primary endpoint was time to progression (TTP). DNA was isolated from whole blood samples using commercially available kits. Polymorphisms examined were MTHFR (C677T, A1298C and G1793A) and TS (TS2R3R, TSG2RG and TSmut6). The MTHF

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Kuramochi, H., K. Tanaka, B. J. Lehman, et al. "Thymidylate synthase polymorphisms and its mRNA expression levels as independent chemo-predictive markers in esophageal adenocarcinoma patients receiving 5-fluorouracil chemotherapy." Journal of Clinical Oncology 24, no. 18_suppl (2006): 4063. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.4063.

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4063 Background: Thymidylate synthase (TS) has either a two or three 28bp tandemly repeated sequence in the 5’ untranslated (UTR) region. The triple repeat allele (3R) is classified into 2 subgroups (3RG, 3RC) according to a G/C polymorphism in the 3R sequences. Another polymorphism is a 6bp deletion in the 3’-UTR region. The genotype with either 3RG allele or 6bp insertion allele has been reported to be associated with high TS expression and chemoresistance to 5-FU. Methods: 83 patients with esophageal adenocarcinoma were assessed. Thirty-four had received 5-FU containing chemotherapy (16 adj

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Reia, Thaís Amanda, Roberta Fernanda da Silva, André Mourão Jacomini, et al. "Acute Exercise, Plasma Nitric Oxide, and Blood Pressure in Older Adults With Different Levels of Training Status: The Influence of Polymorphisms of Endothelial Nitric Oxide Synthase." Journal of Physical Activity and Health 18, no. 5 (2021): 516–23. http://dx.doi.org/10.1123/jpah.2020-0442.

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Background: This study aimed to analyze the acute effect of physical exercise on nitric oxide concentration and blood pressure (BP) in older adults with different levels of training status (TS) and verified the influence of endothelial nitric oxide synthase polymorphisms on these variables. Methods: A total of 145 older adults were divided into good TS (G1) and weak TS (G2). Participants were subjected to a 40-minute treadmill walk (40%–60% of maximum oxygen consumption) with BP measurements and blood collections for plasma nitrite and oxidative stress biomarkers at pretest and posttest moment

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Marcuello, E., L. Pare, A. Altes, et al. "Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving 5-fluorouracil (FU)/oxaliplatin (OX) as first-line chemotherapy." Journal of Clinical Oncology 25, no. 18_suppl (2007): 2509. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.2509.

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2509 Background: Chemotherapy using oxaliplatin, 5-fluorouracil is known to be effective in the treatment of CRC patients. Optimization of this therapy is complicated due to wide variability in drug response that may be due to functional genomic polymorphisms in genes related to the drug target, to the metabolizing or to the DNA repair. We report the evaluation of polymorphisms in the TS, MTHFR (drug target) ERCC1, XPD and GSTP1 (repair enzymes) genes. Methods: We treated 109 CRC patients with a first line oxaliplatin/5-FU chemotherapeutic regimen. Genetic polymorphisms were determined by PCR

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Ioannou, Charalampia, Georgia Ragia, Ioanna Balgkouranidou, et al. "Gender-dependent association of TYMS-TSER polymorphism with 5-fluorouracil or capecitabine-based chemotherapy toxicity." Pharmacogenomics 22, no. 11 (2021): 669–80. http://dx.doi.org/10.2217/pgs-2021-0031.

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Aim: TYMS gene encodes for TS enzyme involved in 5-fluorouracil (5-FU) and capecitabine (CAP) metabolism. This study assessed the association of TYMS-TSER and 3RG>C polymorphisms with 5-FU/CAP adverse event (AE) incidence. Materials & methods: TYMS-TSER and 3RG>C polymorphisms were analyzed by use of PCR/PCR-RFLP in 313 5-FU/CAP-treated cancer patients. Results: Female TYMS-TSER 2R carriers were at increased risk for 5-FU/CAP AEs (odds ratio: 2.195; p = 0.032). 2R/2R genotype was the only factor that increased risk for delayed drug administration or therapy discontinuation (odds rati

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Scalco, Renata C., Ericka B. Trarbach, Edoarda V. A. Albuquerque, et al. "ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome." Endocrine Connections 8, no. 11 (2019): 1513–19. http://dx.doi.org/10.1530/ec-19-0398.

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Most patients with Turner syndrome (TS) need hormone replacement therapy because of hypergonadotropic hypogonadism; individual outcomes, however, are highly variable. Our objective was to assess the influence of five estrogen receptor 1 gene (ESR1) polymorphisms (rs543650, rs1038304, rs2046210, rs2234693 and rs9340799) on adult height, breast development, uterine volume and bone mineral density (BMD). We studied 91 TS patients from a tertiary hospital using adult estrogen dose. In our group, ESR1 rs2234693 was associated with femoral neck and total hip BMD, and it accounted for around 10% of B

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Dotor, Emma, Miriam Cuatrecases, María Martínez-Iniesta, et al. "Tumor Thymidylate Synthase 1494del6 Genotype As a Prognostic Factor in Colorectal Cancer Patients Receiving Fluorouracil-Based Adjuvant Treatment." Journal of Clinical Oncology 24, no. 10 (2006): 1603–11. http://dx.doi.org/10.1200/jco.2005.03.5253.

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Purpose The purpose of this study was to analyze the value of germline and tumor thymidylate synthase (TS) genotyping as a prognostic marker in a series of colorectal cancer patients receiving adjuvant fluorouracil (FU) -based treatment. Patients and Methods One hundred twenty-nine colorectal cancer patients homogeneously treated with FU plus levamisole or leucovorin in the adjuvant setting were included. TS enhancer region, 3R G > C single nucleotide polymorphism (SNP), and TS 1494del6 polymorphisms were assessed in both fresh-frozen normal mucosa and tumor. Mutational analyses of TS and a

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Skibola, Christine F., Martyn T. Smith, Alan Hubbard, et al. "Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia." Blood 99, no. 10 (2002): 3786–91. http://dx.doi.org/10.1182/blood.v99.10.3786.

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We previously reported that 2 polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene at positions C677T and A1298C were associated with lower risk of adult acute lymphocytic leukemia (ALL). In the present study, we have examined whether polymorphisms in other folate-metabolizing genes play a role in ALL susceptibility. Polymorphisms in methionine synthase (MS A2756G), cytosolic serine hydroxymethyltransferase (SHMT1 C1420T), and a double (2R2R) or triple (3R3R) 28-bp tandem repeat in the promoter region of thymidylate synthase (TS) were studied and found to modulate ALL ris

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Falandry, C., B. You, G. Milano, et al. "Individual genotyping to optimize chemotherapy in metastatic colorectal cancer (MCRC): The COLOGEN trial." Journal of Clinical Oncology 25, no. 18_suppl (2007): 2510. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.2510.

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2510 Background: Thymidilate synthase (TS) and UGT1A1 genetic polymorphisms assessment helps to predict 5-FU efficacy and irinotecan toxicity - SN38 inactivation - respectively. We used this information to individualize MCRC first-line chemotherapy in the multi-centre COLOGEN trial. Methods: Were included first-line histologically proven MCRC patients (pts) aged 18–85, PS=2. Genotyping was performed on pts’ lymphocytes sampled at most 10 days before chemotherapy. Pts with 2R/2R or 2R/3R TS profile had subsequent UGT1A1 polymorphism determination. Those with 6/6 or 6/7 UGT1A1 profile received h

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Aguiar, Samuel, Eloisa Olivieri, Dirce Maria Carraro, Celso Lopes Mello, Marcelo Fanelli, and Ademar Lopes. "Association of the polymorphisms of the tandem repeat sequence in the thymidylate synthase gene with tumor stage in colon cancer." Journal of Clinical Oncology 31, no. 15_suppl (2013): e14688-e14688. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e14688.

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e14688 Background: Thymidylate synthase (TS) plays an important role in colorectal carcinogenesis and response to 5FU-based chemotherapy. TS expression can be modified due to polymorphisms in the 5'-untranslated region (5’-UTR) of the gene. The aim of this study is to investigate the association between TS polymorphisms with clinicopathological characteristics of colon carcinomas. Methods: we retrospectively studied 89 individuals with high risk stage II (obstruction, T4 stage, presence of lymphovascular invasion or preoperative CEA > 5.0) and stage III patients submitted to curative intent

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Awan, Saad, Girijesh K. Patel, Anu Singh Maharjan, et al. "Germline pharmacogenomics of thymidylate synthase gene in patients with gastrointestinal malignancies treated with fluoropyrimidines-based chemotherapy regimens." Journal of Clinical Oncology 37, no. 4_suppl (2019): 545. http://dx.doi.org/10.1200/jco.2019.37.4_suppl.545.

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545 Background: Fluoropyrimidines are antimetabolites that target the S phase of the cell cycle. The active metabolite, 5-fluorodeoxyuridine monophosphate inhibits thymidylate synthase (TS) enzyme, thus preventing DNA synthesis and ultimately cell death. While controversy exists in the literature, polymorphism in the promoter region of thymidylate synthase gene (TYMS) that decrease TS expression has been associated with increased fluoropyrimidines-associated toxicities. This study explored the association between polymorphism in the promoter region of TYMS gene and fluoropyrimidines-associated

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Kuramochi, H., K. Hayashi, G. Nakajima, H. Kamikozuru, and M. Yamamoto. "Evaluation of thymidylate synthase and ERCC1 mRNA levels as predictive markers in colorectal cancer patients treated with S-1 and oxaliplatin." Journal of Clinical Oncology 27, no. 15_suppl (2009): e15071-e15071. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e15071.

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e15071 Background: Oxaliplatin has been widely used for the treatment of colorectal cancer. The mechanism of action of platinum compounds such as oxaliplatin is to bind to a DNA molecule in the form of a platinum-DNA-adduct. Excision repair cross complementation group 1 (ERCC1), which plays a major role in the nucleotide excision pathway, has a polymorphism in codon 118, and is reported to be associated with a resistance to platinum-based therapy. Thymidylate synthase (TS) and dehydropyrimidine dehydrogenase (DPD) are key enzymes of 5-FU metabolism and are well known to be associated with a re

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Price, R. A., R. S. Spielman, A. L. Lucena, J. A. Van Loon, B. L. Maidak, and R. M. Weinshilboum. "Genetic polymorphism for human platelet thermostable phenol sulfotransferase (TS PST) activity." Genetics 122, no. 4 (1989): 905–14. http://dx.doi.org/10.1093/genetics/122.4.905.

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Abstract Platelet TS PST basal activity and thermal stability were measured in blood samples from 237 individuals in 50 nuclear families. Significant correlations were found among first degree relatives, confirming the previously reported familial aggregation of TS PST basal activity and thermal stability. Commingling analysis of basal TS PST activity provided evidence for multiple component distributions, and after transformation to remove skewness, segregation analysis supported a major gene hypothesis. For TS PST thermal stability, commingling analysis also provided evidence for multiple co

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Jakobsen, Anders, Jens Nederby Nielsen, Niels Gyldenkerne, and Jan Lindeberg. "Thymidylate Synthase and Methylenetetrahydrofolate Reductase Gene Polymorphism in Normal Tissue As Predictors of Fluorouracil Sensitivity." Journal of Clinical Oncology 23, no. 7 (2005): 1365–69. http://dx.doi.org/10.1200/jco.2005.06.219.

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Purpose To analyze thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with respect to fluorouracil (FU) sensitivity. Patients and Methods The study included a retrospective analysis of 88 patients with metastatic colorectal cancer and a prospective trial with 51 patients also with measurable metastases. All patients were treated with FU and leucovorin. The analysis of gene polymorphism was performed on normal intestinal tissue and lymphocytes. Results The response rate was significantly higher in patients with TS 3R/3R or MTHFR 677 TT gene polymorphism

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Ishibashi, K., N. Okada, T. Ishiguro, et al. "Polymorphisms of GSTP1, GSTT1, GSTM1, MTHFR, TS, ERCC1, and ERCC2 in metastatic colorectal cancer treated by first-line mFOLFOX6 chemotherapy." Journal of Clinical Oncology 27, no. 15_suppl (2009): e14628-e14628. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e14628.

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e14628 Background: It was reported that determining functional polymorphisms of genes involved in drug-metabolising pathways and DNA repair may be useful for predicting the response to 5-FU/oxaliplatin chemotherapy in Caucasian patients with metastatic colorectal cancer. This study was performed to examine whether determining these polymorphisms had any clinical value in Asian patients with colorectal cancer receiving 5-FU/oxaliplatin therapy. Methods: Genomic DNA was extracted from peripheral blood lymphocytes (n=25) or colonic mucosa (n=47) in Japanese patients with metastatic colorectal can

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Duca, Lorena, Francesca Granata, Elena Di Pierro, Valentina Brancaleoni, Giovanna Graziadei, and Isabella Nava. "Associated Effect of SLC40A1 and TMPRSS6 Polymorphisms on Iron Overload." Metabolites 12, no. 10 (2022): 919. http://dx.doi.org/10.3390/metabo12100919.

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Mutations in the ferroportin (FPN) gene SLC40A1 alter iron recycling and cause disturbances in iron homeostasis. The variants of TMPRSS6 contribute to the development of iron deficiencies. In this study, we determined the role of FPN and TMPRSS6 gene polymorphisms in the modulation of iron homeostasis based on biochemical parameters. PCR analysis and sequencing were performed to determine the single nucleotide polymorphisms (SNPs) SLC40A1 c.44–24G>C (rs1439816), SLC40A1 c.663T>C (rs2304704), and TMPRSS6 c.2207T>C (rs855791). Hemoglobin concentration and iron status were determined by

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PEHLIVAN, YAVUZ, BULENT GOGEBAKAN, SERDAR OZTUZCU, et al. "Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis." Journal of Rheumatology 39, no. 1 (2011): 106–11. http://dx.doi.org/10.3899/jrheum.110509.

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Objective.Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.Methods.A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and

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Cole, Peter D., Traci M. Blonquist, Veena Vijayanathan, et al. "Homozygosity for the 2R Tandem Repeat Polymorphism in the Thymidylate Synthase (TS) Promoter Is Associated with Increased Risk for Bony Morbidity Among Children Treated for Acute Lymphoblastic Leukemia on DFCI Protocol 05-001." Blood 126, no. 23 (2015): 251. http://dx.doi.org/10.1182/blood.v126.23.251.251.

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Abstract Introduction: Both fractures and avascular necrosis (AVN) of bone frequently complicate therapy for childhood acute lymphoblastic leukemia (ALL), resulting in significant pain and loss of function. Risk of bony morbidity has been associated with age >10 years and exposure to crucial components of leukemia therapy including corticosteroids, asparaginase, and methotrexate. To further define risk factors, we tested whether 19 common genetic polymorphisms were associated with bony morbidity among 637 children treated for ALL on Dana Farber Cancer Institute ALL Consortium protocol 05-00

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Lee, Kyung-Hun, Hye Jung Chang, Sae-Won Han, et al. "Genetic polymorphisms and ethnic difference in outcome of adjuvant FOLFOX chemotherapy in Korean patients with colon cancer." Journal of Clinical Oncology 30, no. 4_suppl (2012): 623. http://dx.doi.org/10.1200/jco.2012.30.4_suppl.623.

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623 Background: Ethnic diversity of genetic polymorphism can result in individual differences in the efficacy and toxicity of cancer chemotherapy. Methods: A total of 292 Korean patients (183 men and 109 women) from six hospitals in Korea were prospectively enrolled. Patients had resected stage III or high-risk stage II colon cancer and were treated with 12 cycles of adjuvant oxaliplatin plus leucovorin plus 5-fluorouracil (FOLFOX) chemotherapy. 20 germline polymorphisms in 10 genes (TS, MTHFR, ERCC1, XPD, XRCC1, ABCC2, AGXT, GSTP1, GSTT1 and GSTM1) were analyzed from peripheral blood. TS geno

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Pappu, S. S., H. R. Pappu, C. A. Chang, A. K. Culbreath, and J. W. Todd. "Differentiation of Biologically Distinct Peanut Stripe Potyvirus Strains by a Nucleotide Polymorphism-Based Assay." Plant Disease 82, no. 10 (1998): 1121–25. http://dx.doi.org/10.1094/pdis.1998.82.10.1121.

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A necrotic strain of peanut stripe potyvirus (PStV-Ts) was used to design and test strain-differentiating oligonucleotides. The 3′ region of PStV-Ts, including a part of the NIb region, the complete coat protein (CP) gene, and the 3′-untranslated region, was cloned and sequenced. PStV-Ts had a high degree of sequence identity (92 to 95%) to the known non-necrotic (blotch) strains both at the nucleotide and amino acid sequence levels. Nucleotide sequence differences unique to the necrotic strain were identified when compared to the available non-necrotic isolates of PStV. Nucleotide polymorphis

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Schaerer, Dominic, Tanja K. Froehlich, Seid Hamzic, et al. "A Novel Nomenclature for Repeat Motifs in the Thymidylate Synthase Enhancer Region and Its Relevance for Pharmacogenetic Studies." Journal of Personalized Medicine 10, no. 4 (2020): 181. http://dx.doi.org/10.3390/jpm10040181.

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Inhibition of thymidylate synthase (TS) is the primary mode of action for 5-fluorouracil (5FU) chemotherapy. TS expression is modulated by a variable number of tandem repeats in the TS enhancer region (TSER) located upstream of the TS gene (TYMS). Variability in the TSER has been suggested to contribute to 5FU-induced adverse events. However, the precise genetic associations remain largely undefined due to high polymorphism and ambiguity in defining genotypes. To assess toxicity associations, we sequenced the TSER in 629 cancer patients treated with 5FU. Of the 13 alleles identified, few could

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Zarate, R. N., J. Rodriguez, E. Bandres, et al. "Predictive value of Ile105Val polymorphism of the gluthatione-S-transferase P1 in patients with metastatic colorectal cancer (m CRC) treated with the triplet combination of irinotecan, oxaliplatin, and capecitabine." Journal of Clinical Oncology 27, no. 15_suppl (2009): 2544. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.2544.

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2544 Background: Several phase I/II trials have shown that the triplet combination of oxaliplatin, irinotecan and capecitabine is a feasible and active in solid tumors. We aimed to investigate whether germline polymorphisms may be predictors of clinical outcome in mCRC pts treated with this combination. Methods: The following genetic polymorphisms were analysed: glutathione S-transferase (GSTP1-Ile105Val, GSTT1 and GSTM1 deletion), TYMS (TS-5´UTR 2R/3R; TS-5´G/C; TS-3´UTR 6-bp deletion), MTHFR 1298A>C, UGT1A1, ERCC1, XPD. Polymorphisms from peripheral lymphocytes were detected using the Taq

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Rahimi, Mohammad, Ekaterina Semenova, George John, et al. "Effect of ADORA2A Gene Polymorphism and Acute Caffeine Supplementation on Hormonal Response to Resistance Exercise: A Double-Blind, Crossover, Placebo-Controlled Study." Nutrients 16, no. 12 (2024): 1803. http://dx.doi.org/10.3390/nu16121803.

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Previous studies have reported that TT genotype carriers of the adenosine A2a receptor (ADORA2A) gene rs5751876 polymorphism have better ergogenic and anti-inflammatory responses to caffeine intake compared to C allele carriers. The aim of the present study was twofold: (1) to investigate the association of the ADORA2A rs5751876 polymorphism with acute caffeine supplementation on hormonal (growth hormone and testosterone) response to resistance exercise (RE); (2) to examine the relationship between the rs5751876 polymorphism and the resting levels of growth hormone and testosterone in athletes

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Yongkiettrakul, Suganya, Fassou René Kolié, Darin Kongkasuriyachai, et al. "Validation of PfSNP-LAMP-Lateral Flow Dipstick for Detection of Single Nucleotide Polymorphism Associated with Pyrimethamine Resistance in Plasmodium falciparum." Diagnostics 10, no. 11 (2020): 948. http://dx.doi.org/10.3390/diagnostics10110948.

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The loop-mediated isothermal amplification coupled with lateral flow dipstick (PfSNP-LAMP-LFD) was recently developed to detect single nucleotide polymorphism (AAT → ATT), corresponding to substitution of asparagine to isoleucine at amino acid position 51 in the P. falciparumdhfr-ts gene associated with antifolate resistance. In this present study, the PfSNP-LAMP-LFD was validated on 128 clinical malaria samples of broad ranged parasite densities (10 to 87,634 parasites per microliter of blood). The results showed 100% accuracy for the detection of single nucleotide polymorphism for N51I mutat

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Arrazubi, V., J. Suarez, D. Guerrero, et al. "Polymorphisms of thymidylate synthase as prognostic factor in rectal cancer." Journal of Clinical Oncology 29, no. 4_suppl (2011): 433. http://dx.doi.org/10.1200/jco.2011.29.4_suppl.433.

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433 Background: Neoadjuvant fluoropyrimidine-based chemotherapy (ChT) plus radiotherapy (Rt) is a standard approach for locally advanced rectal cancer. Polymorphisms of thymidylate synthase (TS), the target for fluoropyrimidines, are recognized prognostic factors in colon cancer. The aim of this study was to evaluate the prognostic value of the polymorphisms of TS in rectal cancer after neoadjuvant ChT plus Rt. Methods: We studied one-hundred consecutive patients with stage II/III rectal cancer between November 2001 and March 2009. Patients underwent surgery 6-8 weeks after neoadjuvant Rt (5,0

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Kim, H., B. Seo, J. Kim, et al. "Comprehensive analysis of Excision repair complementation group 1, Glutathione S-transferase, Thymidylate synthase, and Uridine diphosphate glucuronosyltransferase 1A1 polymorphisms predictive for treatment outcome in patients with advanced gastric cancer treated with FOLFOX or FOLFIRI." Journal of Clinical Oncology 27, no. 15_suppl (2009): e15580-e15580. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e15580.

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e15580 Background: Pharmacogenetic advances in cancer chemotherapy have the potential to predict clinical benefit to particular regimens. Oxaliplatin and irinotecan have shown to be effective in the treatment of gastric cancer. We assessed whether single nucleotide polymorphisms (SNPs) in ERCC1, GST, TS, and UGT1A1predicted overall survival in gastric cancer patients receiving FOLFOX and/or FOLFIRI chemotherapy. Methods: Total genomic DNA was extracted from whole blood of patient. The PCR- restriction fragment length polymorphism (RFLP) method was applied to detect the known variant sites of E

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Milano, G., M. Francoual, A. Bourgeon, et al. "Multifactorial prospective study of tumoral factors related to disease-free survival (DFS) in colorectal cancer patients." Journal of Clinical Oncology 24, no. 18_suppl (2006): 3604. http://dx.doi.org/10.1200/jco.2006.24.18_suppl.3604.

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3604 Background: There is still a need to identify faithful biological prognostic factors in colorectal cancer, particularly in stage 2, so as to decide upon adjuvant treatment. We thus conducted a prospective multicentric multifactorial study to this end. Methods: Primary colorectal tumors (30 stage 1, 119 stage 2, 107 stage 3) were prospectively collected in 256 patients undergoing total tumor resection (152 men, 104 women ; mean age 69, extremes 29–90). Adjuvant 5FU-based chemotherapy was administered in 92 patients. Median follow-up was 54 months (53 patients developed metastasis or recurr

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Li, Mengdi, La Geng, Shanggeng Xie, Dezhi Wu, Lingzhen Ye, and Guoping Zhang. "Genome-Wide Association Study on Total Starch, Amylose and Amylopectin in Barley Grain Reveals Novel Putative Alleles." International Journal of Molecular Sciences 22, no. 2 (2021): 553. http://dx.doi.org/10.3390/ijms22020553.

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The content and composition of starch in cereal grains are closely related to yield. Few studies have been done on the identification of the genes or loci associated with these traits in barley. This study was conducted to identify the genes or loci controlling starch traits in barley grains, including total starch (TS), amylose (AC) and amylopectin (AP) contents. A large genotypic variation was found in all examined starch traits. GWAS analysis detected 13, 2, 10 QTLs for TS, AC and AP, respectively, and 5 of them were commonly shared by AP and TS content. qTS-3.1, qAC-6.2 and qAP-5.1 may exp

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Li, Mengdi, La Geng, Shanggeng Xie, Dezhi Wu, Lingzhen Ye, and Guoping Zhang. "Genome-Wide Association Study on Total Starch, Amylose and Amylopectin in Barley Grain Reveals Novel Putative Alleles." International Journal of Molecular Sciences 22, no. 2 (2021): 553. http://dx.doi.org/10.3390/ijms22020553.

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The content and composition of starch in cereal grains are closely related to yield. Few studies have been done on the identification of the genes or loci associated with these traits in barley. This study was conducted to identify the genes or loci controlling starch traits in barley grains, including total starch (TS), amylose (AC) and amylopectin (AP) contents. A large genotypic variation was found in all examined starch traits. GWAS analysis detected 13, 2, 10 QTLs for TS, AC and AP, respectively, and 5 of them were commonly shared by AP and TS content. qTS-3.1, qAC-6.2 and qAP-5.1 may exp

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Pypa, L. V., I. V. Odarchuk, Yu M. Lysytsia, V. I. Ruda, and K. Yu Krenov. "Polymorphism of clinical manifestations, experience of diagnosis and treatment of multisystem inflammatory syndrome associated with COVID-19 in children." Modern pediatrics. Ukraine, no. 8(128) (December 28, 2022): 37–44. http://dx.doi.org/10.15574/sp.2022.128.37.

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Purpose - to analyze the literature data on possible variants of the course of pediatric multisystem inflammatory syndrome (PIMS-TS) in children; to describe our own experience in the diagnosis and treatment of some cases of PIMS-TS in children of different age groups; to present possible variants of clinical manifestations of the above disease; to draw attention to the need for early diagnosis and team care and treatment of such children. This novel clinical syndrome later identified as PIMS-TS temporally associated with SARS-CoV-2. In contrast with KD, PIMS-TS appears to occur in children at

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Barcelos, Ana, Elisa Giovannetti, Robert de Jonge, et al. "Polymorphisms correlated with the clinical outcome of locally advanced or metastatic colorectal cancer patients treated with ALIRI vs. FOLFIRI." Pteridines 24, no. 1 (2013): 69–79. http://dx.doi.org/10.1515/pterid-2013-0021.

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AbstractLeucovorin-modulated 5-fluorouracil (5-FU) plus irinotecan (FOLFIRI) is the most common treatment of metastatic colorectal cancer (CRC). 5-FU inhibits thymidylate synthase (TS) and irinotecan topoisomerase I, leading to inhibition of DNA replication and repair. FOLFIRI efficacy suggested that other TS inhibitors might synergize with irinotecan, and Phase I/II studies for second-line treatment showed promising results of combinations with the multitargeted antifolate pemetrexed (PMX), which exerts its effects primarily via TS inhibition. However, a randomized Phase II trial of PMX + iri

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Conradi, L., A. Bleckmann, M. Schirmer, et al. "Biomarker study in rectal cancer patients after 5FU-based radiochemotherapy: Evaluation of the prognostic capacity of thymidylate synthase in pretreatment biopsies and resected adenocarcinoma." Journal of Clinical Oncology 29, no. 4_suppl (2011): 435. http://dx.doi.org/10.1200/jco.2011.29.4_suppl.435.

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435 Background: Fluorouracil (5FU) remains the backbone of neoadjuvant radiochemotherapy (RCT) as well as adjuvant therapeutic strategies in multimodal treatment of rectal cancer patients. Due to its central role as the major target of 5FU thymidylate synthase (TS) is a promising biomarker in rectal cancer. We assessed TS in 208 patients with regard to its predictive/prognostic capacity for disease free DFS and overall cancer specific survival (CSS). Methods: 167 patients cUICC stages II (28%) and III (72%) received preoperative 5FU based RCT followed by total mesorectal excision (TME) A compa

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Weekes, C., S. Nallapareddy, A. Jimeno, et al. "Single nucleotide polymorphisms of TSER, ATM, RecQ1 genes association with survival in pancrease cancer." Journal of Clinical Oncology 27, no. 15_suppl (2009): e14590-e14590. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e14590.

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e14590 Background: Pancreatic cancer (PaCa) is the 4th leading cause of cancer-related mortality in the U.S . We tried to determine whether ATM, RecQ1 gene polymorphisms correlate with gemcitabine (G) and TSER gene polymorphism with capecitabine (C) response and over all survival(OS). We also tested the hypothesis that PaCa pts homozygous for the S/S variant of the TSER will have a higher 6-month survival with C compared to historical controls. TS expression is regulated by a polymorphism in the TSER and has been shown that pts with S/S variant have high response rate and increased toxicity in

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Feng, Fu Juan, Dan Zhao, Xin Sui, and Xiao Yan Sun. "Study on Mating System of Pinus koraiensis in Natural Population Based on cpSSR Technology." Advanced Materials Research 183-185 (January 2011): 700–704. http://dx.doi.org/10.4028/www.scientific.net/amr.183-185.700.

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Chloroplast simple sequence repeat (cpSSR) technique was firstly used to study mating system of natural Pinus koraiensis population. Nine pairs of primers with clear spectrum bands, high stability and polymorphism were selected from 70 pairs of cpSSR primers to analyze the mating systems of 28 individuals. 14 polymorphic loci were detected in the nine pairs of primers. The multi-locus (tm) and single-locus (ts) outcrossing rate were 0.966 (SD=0.000) and 0.939 (SD=0.000), respectively, which were slightly higher than those of other tree species. The constant index (F=-0.035) was below zero, ind

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de Jonge, Robert, Jan Hendrik Hooijberg, Bertrand D. van Zelst, et al. "Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia." Blood 106, no. 2 (2005): 717–20. http://dx.doi.org/10.1182/blood-2004-12-4941.

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Abstract We studied whether common polymorphisms in genes involved in folate metabolism affect methotrexate (MTX) sensitivity. Ex vivo MTX sensitivity of lymphoblasts obtained from pediatric patients with acute lymphoblastic leukemia (ALL; n = 157) was determined by the in situ thymidylate synthase inhibition assay after either continuous (21 hours; TSI50, cont) or short-term (3 hours; TSI50, short) MTX exposure. DNA was isolated from lymphoblasts obtained from cytospin slides. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR 677C&gt;T, MTHFR 1298A&gt;C), methionine synthase

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