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Search Results (18)
  • Open Access

    ARTICLE

    Genetic signatures of ERCC1 and ERCC2 expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy

    ENRICO CALIMAN1,2, SARA FANCELLI1,2, FEDERICO SCOLARI3, ADRIANO PASQUI4, CLARA MANNESCHI4, DANIELE LAVACCHI1, FRANCESCA MAZZONI4, FRANCESCA GENSINI5, VALERIA PASINI6, CAMILLA EVA COMIN2,7, LUCA VOLTOLINI2,8, SERENA PILLOZZI1,2,*, LORENZO ANTONUZZO1,2,4

    Oncology Research, Vol.33, No.1, pp. 45-55, 2025, DOI:10.32604/or.2024.050161 - 20 December 2024

    Abstract Background: Platinum chemotherapy (CT) remains the backbone of systemic therapy for patients with small-cell lung cancer (SCLC). The nucleotide excision repair (NER) pathway plays a central role in the repair of the DNA damage exerted by platinum agents. Alteration in this repair mechanism may affect patients’ survival. Materials and Methods: We conducted a retrospective analysis of data from 38 patients with extensive disease (ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit, Careggi University Hospital, Florence (Italy), from 2015 to 2020. mRNA expression analysis and single nucleotide polymorphism (SNP) characterization of three NER pathway genes—namely ERCC1, ERCC2,… More >

  • Open Access

    ARTICLE

    Relationship between PON-1 enzymatic activity and risk factors for pesticide poisoning in farmers from the Cienega, Jalisco, Mexico

    HAZAEL RAMIRO CEJA-GALVEZ1, ERANDIS DHENI TORRES-SÁNCHEZ1, JUAN HERIBERTO TORRES-JASSO2, EMMANUEL REYESURIBE1, JOEL SALAZAR-FLORES1,*

    BIOCELL, Vol.45, No.5, pp. 1241-1250, 2021, DOI:10.32604/biocell.2021.015771 - 12 July 2021

    Abstract Paraoxonase-1 (PON-1) is an enzyme that hydrolyzes organophosphate pesticides. The presence of polymorphisms in PON-1 (L55M and Q192R) decreases its enzyme activity and increases the risk of central nervous system (CNS) toxicity in occupationally exposed farmers, leading to chronic degenerative diseases and death. We studied 103 farmers in the region of Cienega Jalisco, Mexico, which were exposed mainly to organophosphate pesticides. We used serum and plasma samples to assay PON-1 activity and perform polymorphism analysis (L55M and Q192R) using qPCR and TaqMan probes, respectively. For both polymorphisms, there was high percentage of heterozygosity (55 LL… More >

  • Open Access

    ARTICLE

    Selection and Analysis of Polymorphisms in Somaclonal Variants of Agave americana Resistant to Fusarium oxysporum via an Ethyl Methanesulphonate Treatment

    Sheila Jazmín Reyes-Zambrano1,*, Carlos Alberto Lecona-Guzmán1, Federico Antonio Gutiérrez-Miceli1, Víctor Manuel Ruiz-Valdiviezo1, Arely Anayansi Vargas-Díaz2

    Phyton-International Journal of Experimental Botany, Vol.90, No.6, pp. 1727-1739, 2021, DOI:10.32604/phyton.2021.016171 - 28 June 2021

    Abstract Agave americana L. callus were exposed to different concentrations of ethyl methanesulphonate (EMS) 0, 15, 30, 45 and 60 mM and to different times of exposure (2 and 4 h). The viability and capacity of shoot formation were shown to be affected when the callus were exposed to high concentrations (30–60 mM). Only the callus exposed to 15 mM EMS presented shoot formation; the exposure time of two hours produced the largest quantity of shoots regenerated per callus (21 shoots/callus). In order to generate somaclonal variants resistant to Fusarium oxysporum, a selection pressure was applied through of… More >

  • Open Access

    ARTICLE

    Identification of Single Nucleotide Polymorphisms and Analysis of Linkage Disequilibrium in Different Bamboo Species Using the Candidate Gene Approach

    Xihua Liu1, Min Luo1, Xiaofei Chen1, Changjun Ding2,*

    Phyton-International Journal of Experimental Botany, Vol.90, No.6, pp. 1697-1709, 2021, DOI:10.32604/phyton.2021.015295 - 28 June 2021

    Abstract Bamboos are one of the most beautiful and useful plants on Earth. The genetic background and population structure of bamboos are well known, which helps accelerate the process of artificial domestication of bamboo. Partial sequences of six genes involved in nitrogen use efficiency in 32 different bamboo species were analyzed for occurrence of single nucleotide polymorphisms (SNPs). The nucleotide diversity θw and total nucleotide polymorphisms πT of the sequenced DNA regions was 0.05137 and 0.03332, respectively. Both πnonsyn /πsyn and Ka/Ks values were <1. The nucleotide sequences of these six genes were inferred to be relatively… More >

  • Open Access

    ARTICLE

    CLEC3A gene three polymorphisms and risk of gastric cancer in Northwestern Chinese population

    PING YANG, LIJUAN YUAN, SHUJIA PENG, YANMING DONG, LIN YANG, XI’E HU, GUOQIANG BAO*

    BIOCELL, Vol.45, No.1, pp. 103-108, 2021, DOI:10.32604/biocell.2021.011220 - 26 January 2021

    Abstract This study aimed to evaluate the association between the CLEC3A gene polymorphisms (rs2735401/rs2293776/ rs2072665) and the gastric cancer risk in the Northwestern Chinese population. A hospital-based case-control study was conducted on 681 cases and 756 healthy controls. Odds ratio (OR) and 95% confidence intervals (CI) were applied to evaluate the association of the CLEC3A polymorphisms on gastric cancer risk. We found that there was no significant association between the CLEC3A polymorphisms and gastric cancer susceptibility, which was detected in the main analysis or stratification analyses of age, gender, and clinical stages. Our findings verified that More >

  • Open Access

    ARTICLE

    Two polymorphisms in methylenetetrahydrofolate reductase gene (C677T and A1298C) frequently associated with recurrent spontaneous abortion show no association in Saudi women

    AFRAH ALKHURIJI1, ATEKAH ABDULLAH MOHAMMED ALRAQIBAH1, AMAAL AWAD ALHARBI1, ZENEB BABAY2, FATIMAH BASIL AL-MUKAYNIZI3, ARWA ALTHOMALI3, SONYA S. ABDEL-RAZEQ4, ARJUMAND S. WARSY5

    BIOCELL, Vol.44, No.4, pp. 613-621, 2020, DOI:10.32604/biocell.2020.09652 - 24 December 2020

    Abstract Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of hyperhomocysteinemia, which has been implicated in the etiology of recurrent spontaneous abortion (RSA). This study was designed to investigate the association between two single nucleotide polymorphisms (SNP) (rs1801133 [C677T] and rs1801131 [A1298C]) in the MTHFR gene and RSA, in Saudis. These two SNPs were selected as these polymorphisms have a different effect on the activity and stability of the enzyme, and significantly diverse effects have been reported in relation to the association with RSA. Ethical approval was acquired from the IRB at King Saud… More >

  • Open Access

    ARTICLE

    Significant association of a single nucleotide polymorphism in the upstream region of FGFR1OP2/wit3.0 gene with residual ridge resorption of mandible in Saudis

    Sahar ALZAIN1, Hana AL SHEIKH1, Arwa AL THOMALI2, Fatimah AL-MUKAYNIZI2, Noha ALMOBEREK2, Sahar A. ALMALKI2, Narasimha Reddy PARINE3, Arjumand WARSY2,

    BIOCELL, Vol.44, No.1, pp. 55-62, 2020, DOI:10.32604/biocell.2020.07974 - 01 March 2020

    Abstract Residual ridge resorption (RRR) is the decrease in the jaw structure that follows tooth extraction. It is a multifactorial disorder, but reports on the associated genetic factors are scarce, particularly amongst the Saudis. This study aimed to investigate the role of single nucleotide polymorphisms (SNPs) in fibroblast growth factor receptor 1 oncogene partner 2 (FGFR1OP2) in RRR development in Saudis. The study included 192 individuals (RRR = 96; controls = 96) attending outpatient clinics at the College of Dentistry, King Saud University. Demographic and clinical data were collected, the digital panoramic dental radiograph was obtained,… More >

  • Open Access

    ARTICLE

    XRCC1 Arg399Gln and Arg194Trp polymorphisms regulate XRCC1 expression and chemoresistance of non-small cell lung cancer cells

    Dairong LI1, Xianlu ZHUO1,2, Lumi HUANG1, Xiaohui JI1, Donglin WANG1

    BIOCELL, Vol.43, No.3, pp. 139-144, 2019, DOI:10.32604/biocell.2019.06460

    Abstract X-ray repair cross-complementing protein 1 (XRCC1) could repair cisplatin-induced DNA damage. XRCC1 Arg399Gln and Arg194Trp variants alter XRCC1 expression and function, leading to changes in cancer sensitivity to cisplatin treatment. This study aimed to investigate the effects of XRCC1 Arg399Gln and Arg194Trp polymorphisms on cell viability, apoptosis and XRCC1 expression in cisplatin-sensitive A549 and cisplatin-resistant A549/DDP nonsmall cell lung cancer (NSCLC) cells. Plasmids carrying XRCC1 Arg399Gln and Arg194Trp were constructed and transfected into A549 and A549/DDP cells. RT–PCR, Western blot, MTT assay, and flow cytometry analysis were performed to assess cell viability, apoptosis, and More >

  • Open Access

    REVIEW

    Associations between interleukin-10 polymorphisms and susceptibility to juvenile idiopathic arthritis: a systematic review and meta-analysis

    Sara Harsini1,2, Amene Saghazadeh1,2, Saharnaz Nedjat3, Nima Rezaei1,2,4,5

    European Cytokine Network, Vol.29, No.1, pp. 16-26, 2018, DOI:10.1684/ecn.2018.0404

    Abstract Background: Cytokine genes, including interleukin-10 (IL-10), are known to play important roles in the pathogenesis of juvenile idiopathic arthritis (JIA). This study aims to determine whether the IL-10 polymorphisms confer susceptibility to JIA. Methods: A meta-analysis was performed on the associations between the IL-10 -1082 G/A, -592 C/A, and -819 C/T polymorphisms and JIA. A total number of 7 studies involving 1,785 patients and 6,142 controls were considered in the meta-analysis. Results: Meta-analysis of the IL-10 -592 C/A and -819 C/T polymorphisms showed no association with JIA in the study participants, or in Caucasian or… More >

  • Open Access

    REVIEW

    TGF-β1 functional polymorphisms: a review

    Guilherme Cesar Martelossi Cebinelli, Kleber Paiva Trugilo, Stephanie Badaró Garcia, Karen Brajão de Oliveira

    European Cytokine Network, Vol.27, No.4, pp. 81-89, 2016, DOI:10.1684/ecn.2016.0382

    Abstract Transforming Growth Factor β (TGF-β) is a multifunctional cytokine that plays a role in several biological processes. TGF-ß1 is the most abundantly expressed isoform, associated with susceptibility to various diseases, and several polymorphisms have been described in the TGF-β1 gene structure, and some of them have been associated with functional implications. To date, eight single-nucleotide polymorphisms (SNPs) and one deletion/insertion polymorphism have been shown to affect TGF-β1 expression (rs2317130, rs11466313, rs1800468, rs1800469, rs11466314, rs1800471, rs1800470, and rs11466316); some of these interfere with transcriptional regulation by affecting the binding of transcription factors binding, while others interfere More >

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