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Articles de revues sur le sujet « T-ARMS-PCR »

Auteur : Grafiati

Publié le 9 février 2024

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1

Piccioli, Patrizia, Martina Serra, Viviana Gismondi, et al. "Multiplex Tetra-Primer Amplification Refractory Mutation System PCR to Detect 6 Common Germline Mutations of the MUTYH Gene Associated with Polyposis and Colorectal Cancer." Clinical Chemistry 52, no. 4 (2006): 739–43. http://dx.doi.org/10.1373/clinchem.2005.060137.

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Abstract Background: We describe a simple tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) for detecting MUTYH mutations, which are associated with colorectal adenomas and colorectal cancer. Methods: We designed specific T-ARMS-PCR assays for 6 mutations (Y165C, G382D, 1395_7delGGA, Y90X, 1103delC, and R231H) selected on the basis of the frequency of their occurrence. We also designed a set of 3 multiplex T-ARMS PCR assays, each for detection of 2 mutations. We tested DNA samples from patients with attenuated or classic adenomatous polyposis coli and no detectable APC ger

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Paul, Saikat, Rajneesh Dadwal, Shreya Singh, et al. "Rapid detection of ERG11 polymorphism associated azole resistance in Candida tropicalis." PLOS ONE 16, no. 1 (2021): e0245160. http://dx.doi.org/10.1371/journal.pone.0245160.

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Increasing reports of azole resistance inCandida tropicalis, highlight the development of rapid resistance detection techniques. Nonsynonymous mutations in the lanosterol C14 alpha-demethylase (ERG11) gene is one of the predominant mechanisms of azole resistance inC.tropicalis. We evaluated the tetra primer-amplification refractory mutation system-PCR (T-ARMS-PCR), restriction site mutation (RSM), and high-resolution melt (HRM) analysis methods for rapid resistance detection based onERG11polymorphism inC.tropicalis. Twelve azole-resistant and 19 susceptible isolates ofC.tropicaliswere included

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Pua, Jing Yit, Ang Lee, Vienna Zi Wei Khor, et al. "Development of a sensitive, specific and cost-effective T-ARMS PCR assay for the genotyping of R132H of IDH1 gene in glioma patients." Asian Journal of Medicine and Biomedicine 6, S1 (2022): 61–63. http://dx.doi.org/10.37231/ajmb.2022.6.s1.528.

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The discovery of isocitrate dehydrogenase isoform 1 (IDH1) mutation as a key molecular marker has resulted in a change in glial tumour classification [1]. IDH1 mutations are commonly in gliomas, particularly in low-grade gliomas and secondary glioblastoma [2]. IDH1 p.R132H (c.395G>A) accounted for more than 90% of the mutation in IDH1/2 mutation and had a significant association with clinical outcomes. IDH1/2 mutations cause gain-of-function resulting in the formation of an oncometabolite, R-2-hydroxyglutarate instead of α-ketoglutarate implying a disruption of oxidative decarboxylation of

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Harbeck, Nadia, Raquel von Schumann, Ronald Ernest Kates, et al. "Immune Markers and Tumor-Related Processes Predict Neoadjuvant Therapy Response in the WSG-ADAPT HER2-Positive/Hormone Receptor-Positive Trial in Early Breast Cancer." Cancers 13, no. 19 (2021): 4884. http://dx.doi.org/10.3390/cancers13194884.

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Prognostic or predictive biomarkers in HER2-positive early breast cancer (EBC) may inform treatment optimization. The ADAPT HER2-positive/hormone receptor-positive phase II trial (NCT01779206) demonstrated pathological complete response (pCR) rates of ~40% following de-escalated treatment with 12 weeks neoadjuvant ado-trastuzumab emtansine (T-DM1) ± endocrine therapy. In this exploratory analysis, we evaluated potential early predictors of response to neoadjuvant therapy. The effects of PIK3CA mutations and immune (CD8 and PD-L1) and apoptotic markers (BCL2 and MCL1) on pCR rates were assessed

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Li, Mingxun, Xiaomei Sun, Jing Jiang, et al. "Tetra-primer ARMS-PCR is an efficient SNP genotyping method: An example from SIRT2." Anal. Methods 6, no. 6 (2014): 1835–40. http://dx.doi.org/10.1039/c3ay41370e.

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We have successfully genotyped a new identified bovine SIRT2 SNP g.4140A > G by T-ARMS-PCR method and validated the accuracy by PCR-RFLP assay using 1255 animals representing the five main Chinese breeds.

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Nagayama, Aiko, Tetsu Hayashida, Koji Okabayashi, et al. "A network meta-analysis assessing the comparative effectiveness of neoadjuvant therapy for HER2-positive breast cancer." Journal of Clinical Oncology 31, no. 15_suppl (2013): e11598-e11598. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e11598.

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e11598 Background: The growing number of anti-HER2 agents suggests the eventual need for defining the optimal choice of neoadjuvant therapy for HER2-positive breast cancer. Multiple-treatments meta-analysis synthesizes information from a network of trials and combines direct and indirect evidence on the relative effectiveness. An indirect estimate of the benefit of A over B can be obtained by comparing trials of A v C with trials of B v C. In this study, we assessed the efficacy and safety of neoadjuvant therapy for HER2-positive breast cancer by conducting the direct and indirect comparisons

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Muñoz-García, Canuto, Obdulia L. Segura-León, Julio C. Gómez-Vargas, et al. "Investigating mutations in the genes GDF9 and BMP15 in Pelibuey sheep through the amplification-refractory mutation system with tetra-primers." Austral Journal of Veterinary Sciences 55, no. 3 (2023): 182–88. http://dx.doi.org/10.4206/ajvs.553.04.

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Single Nucleotide Polymorphisms (SNP) or mutations are variations with a broad distribution in the genome and, as part of genetic studies, SNP allow the identification of allelic variants related to characteristics of economic importance in sheep production. However, the identification of SNP and their genotypes through sequencing is expensive, as it requires specialized materials and equipment. The objective of this study was to identify polymorphisms and their genotypes in the growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) genes in Pelibuey sheep using the t

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Motta, B. M., P. Dongiovanni, S. Fargion, and L. Valenti. "T-ARMS-PCR for the evaluation of rs12979860 IL28B genotype: an optimized protocol." Journal of Viral Hepatitis 19, no. 3 (2012): 228. http://dx.doi.org/10.1111/j.1365-2893.2012.01582.x.

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Marty, M. E., J. Guinebretiere, M. Mathieu, et al. "Triple-negative phenotype is a strong predictor of sensitivity to epirubicin-cyclophosphamide (EC) then docetaxel (D) (ECD) primary chemotherapy (PCT) for localized breast cancer." Journal of Clinical Oncology 25, no. 18_suppl (2007): 21128. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.21128.

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21128 Background: Molecular markers (GEP, p53 mutations,) could overcome usual predictors (size, pathology, Hormone receptors, HER2) in identifying patients (pts) experiencing complete pathological response (pCR) with anthracyclin based chemotherapy (Clin.Cancer Res., 2004, 10 6789). We aimed at validating and refining these finding in pts treated with ECD. Methods: From 05/2004 to 04/2006 170 pts not amenable to Breast Conserving Therapy and/or with high evolutive potential were randomly allocated to EC (75/750mg/sqm)x4 then D (100 mg/sqm)x 4 (with or without celecoxib in HER2-ve or trastuzum

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Poe, Brian L., Doris M. Haverstick, and James P. Landers. "Warfarin Genotyping in a Single PCR Reaction for Microchip Electrophoresis." Clinical Chemistry 58, no. 4 (2012): 725–31. http://dx.doi.org/10.1373/clinchem.2011.180356.

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Abstract BACKGROUND Warfarin is the most commonly prescribed oral anticoagulant medication but also is the second leading cause of emergency room visits for adverse drug reactions. Genetic testing for warfarin sensitivity may reduce hospitalization rates, but prospective genotyping is impeded in part by the turnaround time and costs of genotyping. Microfluidics-based assays can reduce reagent consumption and analysis time; however, no current assay has integrated multiplexed allele-specific PCR for warfarin genotyping with electrophoretic microfluidics hardware. Ideally, such an assay would us

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Gluz, Oleg, Ulrike Nitz, Matthias Christgen, et al. "De-escalated chemotherapy versus endocrine therapy plus pertuzumab+ trastuzumab for HR+/HER2+ early breast cancer (BC): First efficacy results from the neoadjuvant WSG-TP-II study." Journal of Clinical Oncology 38, no. 15_suppl (2020): 515. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.515.

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515 Background: HR+/HER2+ breast cancer (BC) is a distinct entity associated with better prognosis compared to HR-/HER2+ BC. However, combination of chemotherapy (CT) with (dual) anti-HER2 blockade is standard in HER2+ early BC (EBC), irrespective of HR-status. Despite of some promising data on combination of endocrine therapy (ET) with dual anti-HER2 blockade in EBC and metastatic HR+/HER2+ BC, no prospective comparison of neoadjuvant CT vs. ET + dual HER2-blockade has yet been performed. Methods: In the prospective WSG TP-II phase II-trial (NCT03272477; Sponsor: Palleos GmbH, Wiesbaden, Germ

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Sadia, Haleema, Waqas Ahmed Khan, Misbah Hussain, and Iqra Murtza. "Development of T-ARMS-PCR to Detect MYBPC3 Gene Variation in Hypertrophic Cardiomyopathy (HCM) Patients." Current Trends in OMICS 3, no. 1 (2023): 60–72. http://dx.doi.org/10.32350/cto.31.04.

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Hypertrophic cardiomyopathy (HCM) is a common and complex, genetically inherited, cardiovascular disorder. It is typically inherited in an autosomal dominant manner with variable penetrance and mutable expression. Mutations in MYBPC3 gene is one of the genetic causes of HCM. Only 0.2% of general population suffers from HCM. The MYBPC3 gene provides instructions for making cardiac myosin binding protein C, which is imperative for the maintenance and regulation of normal cardiac functions. This study aims to explore the reported SNP rs1052373 from exon 30 of MYBPC3 gene in the population of Punj

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Mahdi, Yasmin, and Haidar Kadhim. "Evaluation of Cytotoxic T-Lymphocyte Antigen-4 (+49A/G) Gene Polymorphism in Chronic Hepatitis B Virus Infection." Iraqi Journal of Medical Sciences 18, no. 2 (2020): 101–9. http://dx.doi.org/10.22578/ijms.18.2.3.

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Background: Chronic hepatitis B (CHB) infection is associated with the depletion of T cells, resulting in weak or absent virus specific T cells reactivity, which is described as ‘exhaustion’. This exhaustion is characterized by impaired cytokine production and sustained expression of multiple coinhibitory molecules. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is one of many coinhibitory molecules that can attenuate T cell activation by inhibiting stimulation and transmitting inhibitory signals to T cells. Objective: To explore the effect of CTLA-4+49A/G single nucleotide polymorphism (SNP) on th

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Alshemmari, Salem H., Mohmd Edrees, and Marwa Almusailaik. "Comparative Analysis Between Molecular Techniques Used for the Detection of JAK2V617F Mutation in Patients with Chronic Myeloproliferative Disorders." Blood 118, no. 21 (2011): 5178. http://dx.doi.org/10.1182/blood.v118.21.5178.5178.

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Abstract Abstract 5178 Several somatic mutations have been known to result in an individual to suffer from one or more classes of MPDS. JAK2V617F mutation is the most common somatic mutation that is known as a major contributor to MPDs. Extraction of Total Genomic DNA from Whole Peripheral Blood Blood samples were collected from each subject in vacutainer tubes containing 1.8mg/ml K3-EDTA. Extraction of total genomic DNA was carried following the protocol of a standard QIAGEN DNA Extraction Kit (QIAGEN, USA). Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) for the

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Hameed, Taha, Zahid Khan, Muhammad Imran, et al. "Associations of transcription factor 7-Like 2 (TCF7L2) gene polymorphism in patients of type 2 diabetes mellitus from Khyber Pakhtunkhwa population of Pakistan." African Health Sciences 21, no. 1 (2021): 15–22. http://dx.doi.org/10.4314/ahs.v21i1.4.

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Background: Type 2 diabetes mellitus (T2DM) is the most prevalent component of metabolic syndrome. Environmental factors and various complex genes like transcription factor 7-like 2 (TCF7L2) gene have involved in the disease development. Objective: To determine TCF7L2 genetic association (rs7903146C/T and rs12255372G/T) in T2DM patients of Khyber Pakhtunkhwa population of Pakistan. Subjects and methods: This study comprised of 176 subjects including 118 T2DM patients and 58 healthy controls. Genomic DNA was extracted and genotype of common variants (rs7903146 C/T and rs12255372 G/T

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de Sa Filho, D. J., D. F. de Castro, L. H. Gagliani, and M. M. Caseiro. "Discordant results using T-ARMS-PCR and sequencing for the evaluation of rs12979860 IL28B genotype." Journal of Viral Hepatitis 19, no. 3 (2012): 227. http://dx.doi.org/10.1111/j.1365-2893.2011.01585.x.

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Heidar, Mohammad Mehdi, and Mehri Khatami. "Designing and Validation of One-Step T-ARMS-PCR for Genotyping the eNOS rs1799983 SNP." Iranian Journal of Biotechnology 15, no. 3 (2017): 208–12. http://dx.doi.org/10.15171/ijb.1307.

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Harbeck, Nadia, Oleg Gluz, Matthias Christgen, et al. "De-Escalation Strategies in Human Epidermal Growth Factor Receptor 2 (HER2)–Positive Early Breast Cancer (BC): Final Analysis of the West German Study Group Adjuvant Dynamic Marker-Adjusted Personalized Therapy Trial Optimizing Risk Assessment and Therapy Response Prediction in Early BC HER2- and Hormone Receptor–Positive Phase II Randomized Trial—Efficacy, Safety, and Predictive Markers for 12 Weeks of Neoadjuvant Trastuzumab Emtansine With or Without Endocrine Therapy (ET) Versus Trastuzumab Plus ET." Journal of Clinical Oncology 35, no. 26 (2017): 3046–54. http://dx.doi.org/10.1200/jco.2016.71.9815.

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Purpose Human epidermal growth factor receptor 2 (HER2)–positive/hormone receptor (HR)–positive breast cancer is a distinct subgroup associated with lower chemotherapy sensitivity and slightly better outcome than HER2-positive/HR-negative disease. Little is known about the efficacy of the combination of endocrine therapy (ET) with trastuzumab or with the potent antibody-cytotoxic, anti-HER2 compound trastuzumab emtansine (T-DM1) with or without ET for this subgroup. The West German Study Group trial, ADAPT (Adjuvant Dynamic Marker-Adjusted Personalized Therapy Trial Optimizing Risk Assessment

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Liu, D., Z. Wang, W. Ma, et al. "Tetra-primer ARMS-PCR identified a missense mutation of the bovine <i>NRIP1</i> gene associated with growth traits." Archives Animal Breeding 58, no. 1 (2015): 165–69. http://dx.doi.org/10.5194/aab-58-165-2015.

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Abstract. Nuclear receptor-interacting protein 1 (NRIP1) specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors to inhibit transcription. Previous work has demonstrated this protein to be a key regulator in modulating transcriptional activity of many transcription factors, some of which are closely related to development and growth. In this study, we have successfully genotyped two newly identified bovine NRIP1 single-nucleotide polymorphisms (SNPs) (c.605A > G and c.1301G > A) using the T-ARMS-PCR method and validated the accuracy by means of PCR-RF

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Chiu, Rossa W. K., Michael F. Murphy, Carrie Fidler, Benny C. Y. Zee, James S. Wainscoat, and Y. M. Dennis Lo. "Determination of RhD Zygosity: Comparison of a Double Amplification Refractory Mutation System Approach and a Multiplex Real-Time Quantitative PCR Approach." Clinical Chemistry 47, no. 4 (2001): 667–72. http://dx.doi.org/10.1093/clinchem/47.4.667.

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Abstract Background: Rh isoimmunization and hemolytic disease of the newborn still occur despite the availability of Rh immunoglobulin. For the prenatal investigation of sensitized RhD-negative pregnant women, determination of the zygosity of the RhD-positive father has important implications. The currently available molecular methods for RhD zygosity assessment, in general, are technically demanding and labor-intensive. Therefore, at present, rhesus genotype assessment is most commonly inferred from results of serological tests. The recent elucidation of the genetic structure of the prevalent

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Wolf, Denise M., Christina Yau, Michael J. Campbell, et al. "Biomarkers predicting response to 5 immunotherapy arms in the neoadjuvant I-SPY2 trial for early-stage breast cancer (BC): Evaluation of immune subtyping in the response predictive subtypes (RPS)." Journal of Clinical Oncology 41, no. 16_suppl (2023): 102. http://dx.doi.org/10.1200/jco.2023.41.16_suppl.102.

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102 Background: Previously, we showed that in our first PD1-inhibitor (PD1-inh) arm of I-SPY2, pCR associates with high STAT1/chemokine/dendritic signatures in TN and with high B-cell/low mast cell in HR+. From these results, we defined a research-grade Immune classifier incorporated into the RPS (PMID: 35623341), a schema designed to increase pCR if used to prioritize treatment. A clinical-grade version of the Immune (ImPrint) and other RPS biomarkers are now used in I-SPY2.2. Here we evaluate immune markers in 5 Immune-Oncology (IO) therapy arms (2 PD1-inh, 2 PD1-inh combinations, and 1 PDL1

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Hussain, Misbah, Haq Nawaz Khan, and Fazli Rabbi Awan. "Development and application of low-cost T-ARMS-PCR assay for AGT and CYP11B1 gene polymorphisms." Molecular Biology Reports 46, no. 1 (2018): 443–49. http://dx.doi.org/10.1007/s11033-018-4493-0.

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Mehrabi Pour, Mahsa, Mahboobeh Nasiri, Hajar Kamfiroozie, and Mohammad Javad Zibaeenezhad. "Association of the ATG9B gene polymorphisms with coronary artery disease susceptibility: A case-control study." Journal of Cardiovascular and Thoracic Research 11, no. 2 (2019): 109–15. http://dx.doi.org/10.15171/jcvtr.2019.19.

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Introduction: Endothelial nitric oxide synthase (eNOS), the main regulator of cardiac cell functioning, is regulated post-transcriptionally by autophagy-related 9B (ATG9B) gene. The proper function of the heart is partly determined by the intact interaction of these molecules. The present study aimed to investigate the effects of ATG9B rs2373929 and rs7830 gene polymorphisms on the predisposition to coronary artery disease (CAD). Methods: In this hospital-based case-control study, 150 patients with CAD compared with 150 healthy subjects for the genotype distributions of rs2373929 and rs7830 po

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Sayaman, Rosalyn W., Denise M. Wolf, Christina Yau, et al. "Abstract A066: Machine learning elucidates biology of response within and outside the mechanisms of action of therapeutic agents in the I-SPY2 breast cancer TRIAL." Cancer Research 84, no. 3_Supplement_1 (2024): A066. http://dx.doi.org/10.1158/1538-7445.advbc23-a066.

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Abstract Background: Machine learning (ML) in translational medicine has led to prediction of clinical outcomes and identification of new biomarkers. We employ ML in prediction of pathologic complete response (pCR) in high-risk breast cancer patients in the neoadjuvant I-SPY2 TRIAL where not all novel agents have strong predictive biomarkers. Leveraging a ML approach using progressively expanded candidate genes, we explore the limitations of using only known mechanisms of action in predicting pCR, and the extent to which biology outside known drug action improves response prediction in the fir

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Untch, Michael, Gunter von Minckwitz, Bernd Gerber, et al. "Survival Analysis After Neoadjuvant Chemotherapy With Trastuzumab or Lapatinib in Patients With Human Epidermal Growth Factor Receptor 2–Positive Breast Cancer in the GeparQuinto (G5) Study (GBG 44)." Journal of Clinical Oncology 36, no. 13 (2018): 1308–16. http://dx.doi.org/10.1200/jco.2017.75.9175.

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Purpose The GeparQuinto phase III trial demonstrated a lower pathologic complete response (pCR; pT0 ypN0) rate when lapatinib was added to standard anthracycline–taxane chemotherapy compared with trastuzumab in patients with human epidermal growth factor receptor 2 (HER2) –positive breast cancer. Here, we report the long-term outcomes. Methods Patients with HER2-positive tumors (n = 615) received neoadjuvant treatment with epirubicin (E) plus cyclophosphamide (C), followed by docetaxel (T) in combination with either lapatinib (L) or trastuzumab (H; ECH-TH arm: n = 307; ECL-TL arm: n = 308). Al

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Badshah, Yasmin, Maria Shabbir, Khushbukhat Khan та ін. "Manipulation of Interleukin-6 (IL-6) and Transforming Growth Factor Beta-1(TGFβ-1) towards viral induced liver cancer pathogenesis". PLOS ONE 17, № 10 (2022): e0275834. http://dx.doi.org/10.1371/journal.pone.0275834.

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Hepatocellular carcinoma (HCC) is the most common liver malignancy. Early diagnosis of HCC has always been challenging. This study aims to assess the pathogenicity and the prevalence of IL-6 -174G/C (rs1800795) and TGFβ-1 +29C/T (rs1800470) polymorphisms in HCV-infected HCC patients. Experimental strategies are integrated with computational approaches to analyse the pathogenicity of the TGFβ-1 +29C/T and IL-6–174 G/C polymorphisms in HCV-induced HCC. AliBaba2 was used to predict the effect of IL-6–174 G/C on transcription factor binding site in IL-6 gene. Structural changes in the mutant TGFβ-

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Al-askeri, Mohammed A., Ferdous A. Jabir, and Watheq Jaber. "INTERLEUKIN-18 GENE POLYMORPHISM AND SOME RISK FACTORS IN IRAQI PATIENTS WITH BREAST CANCER." Asian Journal of Pharmaceutical and Clinical Research 10, no. 1 (2016): 140. http://dx.doi.org/10.22159/ajpcr.2017.v10i1.14487.

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ABSTRACTObjective: Breast cancer is the most diagnosed cancer in women, which leads to death in a lot of women with breast cancer. The major risk factorsassociated with breast cancer risk related to family history, age, clinical history, lifestyle factors, long-period hormonal exposure, and single nucleotidepolymorphisms in many genes showed possible links with breast cancer incidence risk in different people populations. Our study aimed to figure outthe correlation between smoking, lodging and family history, and other factors with the risk of breast cancer.Methods: Blood sample from female p

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Valero-Hervás, D. M., P. Morales, M. J. Castro, et al. "Complement C3 Genotyping of Slow and Fast Variants by Real Time PCR-High Resolution Melting." European Journal of Inflammation 10, no. 3 (2012): 329–34. http://dx.doi.org/10.1177/1721727x1201000308.

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“Slow” and “Fast” C3 complement variants (C3S and C3F) result from a g.304C>G polymorphism that changes arginine to glycine at position 102. C3 variants are associated with complement-mediated diseases and outcome in transplantation. In this work C3 genotyping is achieved by a Real Time PCR - High Resolution Melting (RT-PCR-HRM) optimized method. In an analysis of 49 subjects, 10.2% were C3FF, 36.7% were C3SF and 53.1% were C3SS. Allelic frequencies (70% for C3S and 30% for C3F) were in Hardy-Weinberg equilibrium and similar to those published previously. When comparing RT-PCR-HRM with the

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JEON, H. K., K. H. LEE, K. H. KIM, U. W. HWANG, and K. S. EOM. "Complete sequence and structure of the mitochondrial genome of the human tapeworm, Taenia asiatica (Platyhelminthes; Cestoda)." Parasitology 130, no. 6 (2005): 717–26. http://dx.doi.org/10.1017/s0031182004007164.

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The complete Taenia asiatica mitochondrial genome was amplified by long extension polymerase chain reaction (long PCR) to yield overlapping fragments that were then completely sequenced. The whole mitochondrial genome was 13703 bp long and contained 12 protein-encoding, 2 ribosomal RNA (small and large subunits), 22 transfer RNA genes and a short non-coding region. Thus, its gene contents are like those typically found in metazoan animal mitochondrial genomes (apart from the absence of atp8). All the genes were transcribed from the same strand. The 3′ end 34 bp region of nad4L overlapped with

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Bahari, Gholamreza, Mohammad Hashemi, Mohsen Taheri, Mohammad Naderi, Ebrahim Eskandari-Nasab, and Mahdi Atabaki. "Association of IRGM Polymorphisms and Susceptibility to Pulmonary Tuberculosis in Zahedan, Southeast Iran." Scientific World Journal 2012 (2012): 1–5. http://dx.doi.org/10.1100/2012/950801.

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Tuberculosis (TB) is a major cause of morbidity and mortality worldwide. IRGM1 is an important protein in the innate immune response against intracellular pathogens by regulating autophagy. Polymorphisms in the IRGM genes are known to influence expression levels and may be associated with outcome of infections. This case-control study was done on 150 patients with PTB and 150 healthy subjects to determine whether the IRGM polymorphisms at positions −1208 A/G (rs4958842), −1161 C/T (rs4958843), and −947 C/T (rs4958846) were associated with PTB. The polymorphisms were determined using tetra-ampl

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Song, Li, Fei, et al. "Polymorphisms within the Boule Gene Detected by Tetra-Primer Amplification Refractory Mutation System PCR (T-ARMS-PCR) are Significantly Associated with Goat Litter Size." Animals 9, no. 11 (2019): 910. http://dx.doi.org/10.3390/ani9110910.

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As a gene contributing to spermatogenesis, the Boule gene (also called Boll), whose mutations result in azoospermia and sterility of flies and mice, was conserved in reductional maturation divisions. However, in goats, the polymorphisms of Boule, especially with regard to their fundamental roles in female reproduction traits, are still unknown. Therefore, the aims of this study were to detect a potential mutation (rs661484476: g.7254T>C) located in intron 2 of the Boule gene by tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) and to explore its potential association wi

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Islam, Md Rabiul, Tasnova Tasnim Nova, NAM Momenuzzaman, et al. "Prevalence of CYP2C19 and ITGB3 polymorphisms among Bangladeshi patients who underwent percutaneous coronary intervention." SAGE Open Medicine 9 (January 2021): 205031212110422. http://dx.doi.org/10.1177/20503121211042209.

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Introduction: Antithrombotic agents are the basic therapeutic option for patients with arterial thrombosis who underwent percutaneous coronary intervention (PCI). In Bangladesh, aspirin and clopidogrel are frequently prescribed as antithrombotics or platelet inhibitors. Studies reported the genetic polymorphisms of CYP2C19*2, CYP2C19*17, and ITGB3 cause an alteration of the pharmacodynamic and pharmacokinetic profile of aspirin and clopidogrel. Therefore, we aimed to assess the prevalence of CYP2C19*2, CYP2C19*17, and ITGB3 polymorphisms among Bangladeshi patients with cardiovascular disease (

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Zhang, Sihuan, Yonglong Dang, Qingfeng Zhang, et al. "Tetra-primer amplification refractory mutation system PCR (T-ARMS-PCR) rapidly identified a critical missense mutation (P236T) of bovine ACADVL gene affecting growth traits." Gene 559, no. 2 (2015): 184–88. http://dx.doi.org/10.1016/j.gene.2015.01.043.

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Wargo, Jennifer Ann, Rodabe Navroze Amaria, Peter A. Prieto, et al. "Relapse-free survial and target identification to enhance response with neoadjuvant and adjuvant dabrafenib + trametinib (D+T) treatment compared to standard-of-care (SOC) surgery in patients (pts) with high-risk resectable BRAF-mutant metastatic melanoma." Journal of Clinical Oncology 35, no. 15_suppl (2017): 9587. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.9587.

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9587 Background: Targeted and immune therapies have dramatically improved outcomes in stage IV metastatic melanoma pts. These agents are now being tested in earlier-stage disease. SOC surgery for high-risk resectable melanoma (AJCC stage IIIB/IIIC), with or without adjuvant therapy, is associated with a high risk of relapse (~70%). We hypothesized that neoadjuvant (neo) + adjuvant treatment with D+T improves RFS in these pts. Longitudinally collected biospecimens from pts receiving this treatment were analyzed to identify candidate strategies to further improve outcomes. Methods: A prospective

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Qiu, Ling, Zong-xiang Tang, Meng Li, and Shu-lan Fu. "Development of new PCR-based markers specific for chromosome arms of rye (Secale cereale L.)." Genome 59, no. 3 (2016): 159–65. http://dx.doi.org/10.1139/gen-2015-0154.

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PCR-based rye (Secale cereale L.) chromosome-specific markers can contribute to the effective utilization of elite genes of rye in wheat (Triticum aestivum L.) breeding programs. In the present study, 578 new PCR-based rye-specific markers have been developed by using specific length amplified fragment sequencing (SLAF-seq) technology, and 76 markers displayed different polymorphism among rye Kustro, Imperial, and King II. A total of 427 and 387 markers were, respectively, located on individual chromosomes and chromosome arms of Kustro by using a set of wheat–rye monosomic addition lines and 1

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Zhang, Chong, Xiaohui Zhang, Zhengying Yao, Yaping Lu, Fengxia Lu, and Zhaoxin Lu. "A new method for multiple gene inactivations in Bacillus subtilis 168, producing a strain free of selectable markers." Canadian Journal of Microbiology 57, no. 5 (2011): 427–36. http://dx.doi.org/10.1139/w11-035.

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This study describes a novel method for repeated gene inactivation in Bacillus subtilis 168. A B. subtilis strain (BS-PS) that is conditionally auxotrophic for lysine was obtained by replacing the PlysA promoter with the Pspac promoter. The homologous recombination integration vector PLC-T was constructed to contain lacI, which encodes a Pspac promoter repressor, and the chloromycetin resistance gene. Target genes were manipulated by generating an insertion sequence with two homologous arms and the target gene in PLC-T to create a specific integrating vector. Integration into the BS-PS chromos

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Khavandegar, Armin, Bahareh Tavakoli-Far, Sarina Ansari, et al. "Allelic and Genotype Frequencies of CYP2B6∗2 (64C > T) and CYP2B6∗3 (777C > A) in Three Dominant Ethnicities of the Iranian Population." Genetics Research 2023 (February 9, 2023): 1–8. http://dx.doi.org/10.1155/2023/8283470.

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Background. Cytochrome P450 complex plays a key role in drug metabolism. CYP2B6 has an essential part in Cytochrome P450 complex metabolism. This study aims to determine the allelic distribution of CYP2B6∗2 and CYP2B6∗3 in three main Iranian ethnicities: Fars, Turk, and Kurd. Methods. The study was conducted on 174 unrelated healthy volunteers from three main Iranian ethnicities. After DNA extraction from peripheral blood samples, genotyping of CYP2B6∗2 and ∗3 was performed using tetra ARMS and ARMS PCR, respectively. Results. The average age of 174 cases was 40.69 ± 11.87 (mean ± SD) and 39.0

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Sharma, Priyanka, Bruce F. Kimler, Anne O'Dea, et al. "Results of randomized phase II trial of neoadjuvant carboplatin plus docetaxel or carboplatin plus paclitaxel followed by AC in stage I-III triple-negative breast cancer (NCT02413320)." Journal of Clinical Oncology 37, no. 15_suppl (2019): 516. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.516.

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516 Background: Addition of neoadjuvant carboplatin (Cb) to paclitaxel (T) followed by doxorubicin + cyclophosphamide (AC) improves pathologic complete response (pCR) rate compared to T/AC in TNBC. An anthracycline-free regimen of Cb plus docetaxel (D) also yields high pCR rates in TNBC, and patients achieving pCR with this regimen demonstrate excellent 3-year outcomes without adjuvant anthracycline. This study was designed to compare the efficacy of neoadjuvant regimens CbT→AC and CbD in TNBC. Methods: In this multicenter study, eligible patients with stage I–III TNBC were randomized (1:1) to

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Ghafer, Asmaa, Abdulameer M. Ghareeb, and Abdul Hussain M. Al-Faisal. "Association the allelic variation and SNP rs12917707 genotyping with UMOD serum level among Iraqi patients infected with uropathogenic Escherichia coli." Sumer 1 8, CSS 1 (2023): 1–12. http://dx.doi.org/10.21931/rb/css/2023.08.01.83.

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: The current study included 90 samples collected and divided into (45) Urinary tract infections of E. coli patients and (45) controls with different ages of both genders. Patient samples were collected from UTI patients admitted to ALYarmouk Teaching Hospital, AL-Karama Teaching Hospital and Al Kidney Teaching Hospital from November 2020 to March 2021. The current study measured Tamm Horsfall protein (THP) concentration in patients with Urinary tract infections and healthy groups. The study also included the Relationship of Umod rs12917707 genotype and Uromodulin level in patients and control

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Heidari, Zahra, Hamidreza Mahmoudzadeh-Sagheb, Mohammad Hashemi, Somayeh Ansarimoghaddam, Bita Moudi та Nadia Sheibak. "Association between IFN-γ+874A/T and IFN-γR1 (-611A/G, +189T/G, and +95C/T) Gene Polymorphisms and Chronic Periodontitis in a Sample of Iranian Population". International Journal of Dentistry 2015 (2015): 1–8. http://dx.doi.org/10.1155/2015/375359.

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Background. Interferon gamma (IFN-γ) is an immune regulatory cytokine that acts through its receptor and plays important role in progression of inflammatory disease such as chronic periodontitis (CP). The purpose of this study was to determine the differences in the distribution of IFN-γ(+874A/T) and IFN-γR1 (-611A/G, +189T/G, and +95C/T) gene polymorphisms among CP and healthy individuals and to investigate relationships between these polymorphisms and susceptibility to CP.Materials and Methods. 310 individuals were enrolled in the study including 210 CP patients and 100 healthy controls. Sin

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Bear, H. D., G. Tang, P. Rastogi, et al. "The effect on pCR of bevacizumab and/or antimetabolites added to standard neoadjuvant chemotherapy: NSABP protocol B-40." Journal of Clinical Oncology 29, no. 18_suppl (2011): LBA1005. http://dx.doi.org/10.1200/jco.2011.29.18_suppl.lba1005.

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LBA1005 Background: The addition of capecitabine (X), gemcitabine (G), and bevacizumab (B) to taxanes have each improved PFS in metastatic breast cancer. The primary aims of this trial were to determine if adding X or G to docetaxel (T) → AC will increase breast pathologic complete response (pCR) rates in operable, HER2-negative breast cancer and if adding B to T-based regimens →AC will increase pCR rates. Secondary aims included assessment of clinical complete response (cCR) rates. Methods: Pts received one of 3 T-based regimens, with or without B, 15mg/kg, q3wks x 4: T 100 mg/m2 day 1; T 75

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Abbasali, F. H., K. Sh Mahmoud, N. Hengameh, et al. "Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity." Balkan Journal of Medical Genetics 25, no. 2 (2022): 51–62. http://dx.doi.org/10.2478/bjmg-2022-0016.

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ABSTRACT Background Thalassemia, as the most common single-gene genetic disorder, is related to a defect in the synthesis of one or more hemoglobin chains. More than 200 mutations have been identified in the β-globin gene. Globally, every susceptible racial group has its own specific spectrum of the common mutations that are well-known to a particular geographic region. On the other hand, varying numbers of diverse rare mutations may occur. Materials and Methods The subjects of the study included 2113 heterozygote or homozygote β-thalassemia cases selected among couples who participated in the

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Purzycka-Bohdan, Dorota, Bogusław Nedoszytko, Marta Sobalska-Kwapis, et al. "Assessment of the Potential Role of Selected Single Nucleotide Polymorphisms (SNPs) of Genes Related to the Functioning of Regulatory T Cells in the Pathogenesis of Psoriasis." International Journal of Molecular Sciences 24, no. 7 (2023): 6061. http://dx.doi.org/10.3390/ijms24076061.

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Recent studies have indicated a key role of the impaired suppressive capacity of regulatory T cells (Tregs) in psoriasis (PsO) pathogenesis. However, the genetic background of Treg dysfunctions remains unknown. The aim of this study was to evaluate the association of PsO development with selected single nucleotide polymorphisms (SNPs) of genes in which protein products play a significant role in the regulation of differentiation and function of Tregs. There were three study groups in our research and each consisted of different unrelated patients and controls: 192 PsO patients and 5605 healthy

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Revathi, Badiginchala, Palanki Satya Dattatreya, Attili Venkata Satya Suresh, Sharanabasappa Somanath Nirni, and Vindhya Vasini Andra. "Nanosomal docetaxel lipid suspension (NDLS) based (neo) adjuvant chemotherapy improves pathological complete response (pCR) in patients with breast cancer." Journal of Clinical Oncology 40, no. 16_suppl (2022): e12591-e12591. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e12591.

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e12591 Background: Nanosomal docetaxel lipid suspension (NDLS) was developed to overcome toxicity issues associated with conventional docetaxel. We evaluated the safety and efficacy of NDLS versus conventional docetaxel-based neo/adjuvant chemotherapy in patients with breast cancer. Methods: Patients with stage IIb-III breast cancer were randomized (1:1) to receive neoadjuvant doxorubicin and cyclophosphamide (AC) followed by conventional docetaxel (arm A) or NDLS (Doceaqualip; arm B) at a dose 75 mg/m2 IV every 3-weekly for 4 cycles as neo/adjuvant therapy. Patients with human epidermal growt

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Revathi, Badiginchala, Palanki Satya Dattatreya, Attili Venkata Satya Suresh, Sharanabasappa Somanath Nirni, and Vindhya Vasini Andra. "Nanosomal docetaxel lipid suspension (NDLS) based (neo) adjuvant chemotherapy improves pathological complete response (pCR) in patients with breast cancer." Journal of Clinical Oncology 40, no. 16_suppl (2022): e12591-e12591. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e12591.

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e12591 Background: Nanosomal docetaxel lipid suspension (NDLS) was developed to overcome toxicity issues associated with conventional docetaxel. We evaluated the safety and efficacy of NDLS versus conventional docetaxel-based neo/adjuvant chemotherapy in patients with breast cancer. Methods: Patients with stage IIb-III breast cancer were randomized (1:1) to receive neoadjuvant doxorubicin and cyclophosphamide (AC) followed by conventional docetaxel (arm A) or NDLS (Doceaqualip; arm B) at a dose 75 mg/m2 IV every 3-weekly for 4 cycles as neo/adjuvant therapy. Patients with human epidermal growt

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Bisseneva, Anar Kazbekovna, Gayane Pavlovna Pogossyan, and Constantin Grigoryevich Li. "Association of polymorphism rs12329760 of the TMPRSS2 gene with coronavirus infection." Bulletin of the Karaganda University. “Biology, medicine, geography Series” 109, no. 1 (2023): 44–48. http://dx.doi.org/10.31489/2023bmg1/44-48.

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The article presents the results of genotyping of DNA samples obtained from study participants with the established status of coronavirus infection (COVID-19) using enzyme immunoassay for the single nucleotide polymorphism rs12329760 (C/T) of the TMPRSS2 gene. Genotyping was carried out by polymerase chain reaction (PCR) in real time using the technique “Amplification of the refractory mutation system” (ARMS). The distribution of frequencies of genotypes and alleles rs12329760 C>T of the TMPRSS2 gene in 80 people of the experimental and control groups was analyzed. The presence of the signi

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Harbeck, Nadia, Oleg Gluz, Matthias Christgen, et al. "De-escalated neoadjuvant pertuzumab+trastuzumab with or without paclitaxel weekly in HR-/HER2+ early breast cancer: ADAPT-HR-/HER2+ biomarker and survival results." Journal of Clinical Oncology 39, no. 15_suppl (2021): 503. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.503.

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503 Background: Optimal use of de-escalated, particularly chemotherapy(CT)-free, neoadjuvant regimens in HER2+ early breast cancer (EBC) is currently unclear as there are limited survival data so far. In ADAPT-HR-/HER2+, we previously showed an excellent pCR rate of 90% after 12-week neoadjuvant paclitaxel (Pac) +pertuzumab (P) +trastuzumab (T) and a substantial and clinically meaningful pCR rate of 34% after P+T alone in HR-/HER2+ EBC. Here, we present first survival data. Methods: The prospective multicenter WSG-ADAPT-HR-/HER2+ phase II-trial is part of the ADAPT-umbrella protocol. Patients

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Chabas, Delphine, Nathalie Beaufils, Gerard Sebahoun, et al. "New Detection Method of V617F JAK2 Mutation; Its Use in a Clinical Setting." Blood 108, no. 11 (2006): 4889. http://dx.doi.org/10.1182/blood.v108.11.4889.4889.

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Abstract Background: A single point mutation in the Janus 2 tyrosine kinase gene leading to a V617F substitution has been described in a large group of hematological pathologies such as Polycythemia Vera (PV), Essential Thrombocytaemia (ET), Idiopathic Myelofibrosis (IM) and unclassified Myeloproliferative disorders (MPDs). Mutated JAK2 is an essential biomarker which improves the understanding and classification of MPDs and offers a new target for specific therapeutics. Methods: We adapted the V617F genotyping by amplification mutation system (ARMS) PCR described by AmyV Jones and Nicholas C.

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Mokhtari, Mohammad Ali, Saman Sargazi, Ramin Saravani, et al. "Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis." Disease Markers 2022 (September 22, 2022): 1–14. http://dx.doi.org/10.1155/2022/1886658.

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Accumulating evidence has suggested that miR-137 and its target genes, CACNA1C, and TCF4, are amongst the most robustly implicated genes in psychiatric disorders. This preliminary study is aimed at investigating the effects of genetic variations in miR-137 (rs1625579A/C), TCF4 (rs1261084C/T), and CACNA1C (rs10774053A/G and rs10466907G/T) on BD susceptibility. We recruited 252 BD patients and 213 healthy subjects as the control group. Genotyping was performed using PCR-RFLP and ARMS-PCR methods. Enhanced risk of BD was found under the codominant homozygous, dominant, and allelic models of TCF4

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Olt, Serdar, Orhan Öznas, Haydar Bağış, and Eda Tahir Turanlı. "Chemerin rs17173608 Gene Polymorphism is not Associated with Type 2 Diabetes Mellitus: a Cross-sectional Study." Folia Medica 61, no. 1 (2019): 69–75. http://dx.doi.org/10.2478/folmed-2018-0045.

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Abstract Background: Previous studies have shown that chemerin has important roles in the development of obesity, insulin resistance, metabolic syndrome, polycystic ovary syndrome (PCOS) and T2DM. The main goal of our study was to investigate the role of Chemerin rs17173608 gene polymorphism in T2DM (type 2 diabetes mellitus). Materials and methods: 100 patients with T2DM and 50 healthy volunteers were included in the present study. DNA isolation from blood samples was performed with K1820-02 DNA Mini Kit. Chemerin gene polymorphism was detected by Tetra- Amplification Refractory mutation syst

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