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https://www.readbyqxmd.com/read/27901069/molecular-profiling-of-circulating-tumour-cells-identifies-notch1-as-a-principal-regulator-in-advanced-non-small-cell-lung-cancer
#1
Javier Mariscal, Marta Alonso-Nocelo, Laura Muinelo-Romay, Jorge Barbazan, Maria Vieito, Alicia Abalo, Antonio Gomez-Tato, Casares de Cal Maria de Los Angeles, Tomas Garcia-Caballero, Carmela Rodriguez, Elena Brozos, Francisco Baron, Rafael Lopez-Lopez, Miguel Abal
Knowledge on the molecular mechanisms underlying metastasis colonization in Non-Small Cell Lung Cancer (NSCLC) remains incomplete. A complete overview integrating driver mutations, primary tumour heterogeneity and overt metastasis lacks the dynamic contribution of disseminating metastatic cells due to the inaccessibility to the molecular profiling of Circulating Tumour Cells (CTCs). By combining immunoisolation and whole genome amplification, we performed a global gene expression analysis of EpCAM positive CTCs from advanced NSCLC patients...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27833078/dapper-homolog-1-alpha-suppresses-metastasis-ability-of-gastric-cancer-through-inhibiting-planar-cell-polarity-pathway
#2
Yuegeng Liu, Jingwan Zhang, Weifang Yu, Xiaoming Zhang, Guiqi Wang, Zengren Zhao
Dapper homolog 1 alpha (DACT1α) is a member of DACT family and an important regulator in the planar cell polarity pathway. We aim to clarify its functional role in metastasis ability of gastric cancer. DACT1α was silenced in all gastric cancer cell lines (8/8), but expressed in normal gastric tissue. Ectopic expression of DACT1α in silenced gastric cancer cell lines (AGS, BGC823 and MGC803) by stable transfection significantly suppressed cancer cell spreading (P < 0.05), migration (P < 0.01) and invasion (P < 0...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27792840/maternal-genetic-polymorphisms-and-unexplained-recurrent-miscarriage-a-systematic-review-and-meta-analysis
#3
REVIEW
X Shi, X Xie, Y Jia, S Li
The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genetic polymorphisms that were suspected to be involved in RM, and discussed potential genetic biomarkers of RM. Eligible articles were identified in PubMed, Medline, Embase and CNKI. Odd ratios (ORs) and 95% confidence intervals (CIs) were used to describe the strength of association, and a probability value (p value) of 0...
October 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27759448/toward-optimal-set-of-single-nucleotide-polymorphism-investigation-before-ivf
#4
A V Ivanov, A G Dedul, Y N Fedotov, E V Komlichenko
BACKGROUND: At present, the patient preparation for IVF needs to undergo a series of planned tests, including the genotyping of single nucleotide polymorphism (SNP) alleles of some genes. In former USSR countries, such investigation was not included in overwhelming majority of health insurance programs and paid by patient. In common, there are prerequisites to the study of more than 50 polymorphisms. An important faced task is to determine the optimal panel for SNP genotyping in terms of price/number of SNP...
October 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27753953/os-08-03-pharmacogenetic-markers-of-survival
#5
Vera Erdman, Ilsia Tuktarova, Timur Nasibullin, Ianina Timasheva, Olga Mustafina
OBJECTIVE: Physiological and biochemical changes during aging alter drug metabolism. Drug intake is increased with age because of cumulative morbidity, in particular, high prevalence of cardiovascular diseases. Antihypertensive medications are the most commonly used drugs. Individual drug sensitivity or resistance may be influenced by the variance of the "pharmacological response" genes.Our purpose was to search for the polymorphic variants of "pharmacological response" genes associated with survival in different age periods...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27746115/generation-and-analysis-of-gata2-w-egfp-human-escs-reveal-itgb3-cd61-as-a-reliable-marker-for-defining-hemogenic-endothelial-cells-during-hematopoiesis
#6
Ke Huang, Jiao Gao, Juan Du, Ning Ma, Yanling Zhu, Pengfei Wu, Tian Zhang, Wenqian Wang, Yuhang Li, Qianyu Chen, Andrew Paul Hutchins, Zhongzhou Yang, Yi Zheng, Jian Zhang, Yongli Shan, Xuejia Li, Baojian Liao, Jiajun Liu, Jinyong Wang, Bing Liu, Guangjin Pan
The transition from hemogenic endothelial cells (HECs) to hematopoietic stem/progenitor cells (HS/PCs), or endothelial to hematopoietic transition (EHT), is a critical step during hematopoiesis. However, little is known about the molecular determinants of HECs due to the challenge in defining HECs. We report here the generation of GATA2(w/eGFP) reporter in human embryonic stem cells (hESCs) to mark cells expressing GATA2, a critical gene for EHT. We show that during differentiation, functional HECs are almost exclusively GATA2/eGFP(+)...
November 8, 2016: Stem Cell Reports
https://www.readbyqxmd.com/read/27743928/distortion-of-the-normal-function-of-synaptic-cell-adhesion-molecules-by-genetic-variants-as-a-risk-for-autism-spectrum-disorders
#7
Deeba Noreen Baig, Toru Yanagawa, Katsuhiko Tabuchi
Synaptic cell adhesion molecules (SCAMs) are a functional category of cell adhesion molecules that connect pre- and postsynapses by the protein-protein interaction via their extracellular cell adhesion domains. Countless numbers of common genetic variants and rare mutations in SCAMs have been identified in the patients with autism spectrum disorders (ASDs). Among these, NRXN and NLGN family proteins cooperatively function at synaptic terminals both of which genes are strongly implicated as risk genes for ASDs...
October 12, 2016: Brain Research Bulletin
https://www.readbyqxmd.com/read/27720845/identification-of-a-gene-expression-signature-in-peripheral-blood-of-multiple-sclerosis-patients-treated-with-disease-modifying-therapies
#8
Chiara Cordiglieri, Fulvio Baggi, Pia Bernasconi, Dimos Kapetis, Elisa Faggiani, Alessandra Consonni, Francesca Andreetta, Rita Frangiamore, Paolo Confalonieri, Carlo Antozzi, Renato Mantegazza
Multiple Sclerosis (MS) is an inflammatory disease with neurodegenerative alterations, ultimately progressing to neurological handicap. Therapies are effective in counteracting inflammation but not neurodegeneration. Biomarkers predicting disease course or treatment response are lacking. We investigated whether altered gene and protein expression profiles were detectable in the peripheral blood of 78 relapsing remitting MS (RR-MS) patients treated by disease-modifying therapies. A discovery/validation study on RR-MS responsive to glatiramer acetate identified 8 differentially expressed genes: ITGA2B, ITGB3, CD177, IGJ, IL5RA, MMP8, P2RY12, and S100β...
October 5, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27643348/os-08-03-pharmacogenetic-markers-of-survival
#9
Vera Erdman, Ilsia Tuktarova, Timur Nasibullin, Ianina Timasheva, Olga Mustafina
OBJECTIVE: Physiological and biochemical changes during aging alter drug metabolism. Drug intake is increased with age because of cumulative morbidity, in particular, high prevalence of cardiovascular diseases. Antihypertensive medications are the most commonly used drugs. Individual drug sensitivity or resistance may be influenced by the variance of the "pharmacological response" genes.Our purpose was to search for the polymorphic variants of "pharmacological response" genes associated with survival in different age periods...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27629735/the-apoe-e4-allele-confers-increased-risk-of-ischemic-stroke-among-greek-carriers
#10
Christopher Konialis, Konstantinos Spengos, Panagiotis Iliopoulos, Sophia Karapanou, Elias Gialafos, Birgitta Hagnefelt, Konstantinos Vemmos, Nikolaos Zakopoulos, Constantinos Pangalos
BACKGROUND: Although several studies in various countries have indicated that the presence of the E4 allele of the apolipoprotein-E (APOE) gene is a risk factor for ischemic cerebrovascular disease, the strength of this association still remains a matter of debate. OBJECTIVES: The aim of the study was to determine the frequency of the APOE E4 allele and various other gene polymorphisms in in a well-characterized sample of Greek patients and to evaluate the potential associations with the risk of ischemic stroke (IS) and coronary heart disease (CHD)...
May 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27624535/hierarchical-heterogeneity-in-mammary-tumors-and-its-regulation-by-autophagy
#11
Syn Kok Yeo, Jun-Lin Guan
Intra-tumor heterogeneity can be attributed in part to the ability of tumor cells to acquire traits associated with less differentiated cells. In MMTV-PyMT mammary tumors, this hierarchical heterogeneity can be illustrated with the use of ITGB1/CD29(hi) ITGB3/CD61(+) markers to enrich for mammary stem-like cells and ALDH(+) to identify luminal progenitor-like cells. Macroautophagy/autophagy appears to be important for maintaining the cancer stem-like traits of both these populations. Interestingly, the regulation of these distinct cancer stem-like cells by autophagy occurs through EGFR-STAT3 and TGFB/TGF-β-SMAD pathways, respectively...
October 2, 2016: Autophagy
https://www.readbyqxmd.com/read/27576787/mir-30a-5p-suppresses-tumor-metastasis-of-human-colorectal-cancer-by-targeting-itgb3
#12
Wei Wei, Yang Yang, Jian Cai, Kai Cui, Rong Xian Li, Huan Wang, Xiujuan Shang, Dong Wei
AIMS: MicroRNAs (miRNAs) are dysregulated in a wide range of malignant diseases, confirming their crucial role in tumor metastasis. MiRNA-30a-5p, a member of the miR-30 family, has been implicated in many types of cancers, including colorectal cancer, a leading cause of death worldwide. METHODS: qRT-PCR, Western blot, Transwell assay,luciferase reporter assay were performed in the present study. RESULTS: In this study, miR-30a-5p was found to be significantly downregulated in human colorectal cancer tissue specimens and cell lines compared with non-cancerous tissues and cells...
2016: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/27492398/analysis-of-polymorphism-of-angiotensin-system-genes-ace-agtr1-and-agt-and-gene-itgb3-in-patients-with-arterial-hypertension-in-combination-with-metabolic-syndrome
#13
T Yu Zotova, A P Kubanova, M M Azova, A Ait Aissa, O O Gigani, V A Frolov
Changes in the frequencies of genotypes and mutant alleles of ACE, AGTR1, AGT, and ITGB3 genes were analyzed in patients with arterial hypertension coupled with metabolic syndrome (N=15) and compared with population data and corresponding parameters in patients with isolated hypertension (N=15). Increased frequency of genotype ID of ACE gene (hypertension predictor) was confirmed for both groups. In case of isolated hypertension, M235M genotype (gene AGT) was more frequent, in case of hypertension combined with metabolic syndrome, the frequency of genotypes A1166C and C1166C of the gene AGTR1 was higher in comparison with population data...
July 2016: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27469266/linkage-disequilibrium-amongst-itga2b-and-itgb3-gene-variants-in-patients-with-glanzmann-thrombasthenia-confirms-that-most-disease-causing-mutations-are-recent
#14
Xavier Pillois, Alan T Nurden
We recently reported mutation analysis of the largest cohort of Glanzmann thrombasthenia (GT) patients so far examined. Sanger sequencing of coding regions, splice sites, upstream and downstream regions of the ITGA2B and ITGB3 genes identified 78 causal genetic variants (55 novel); 4 large deletions or duplications were also detected. We have now analysed the expression of non-causal gene polymorphisms in the sequenced regions of both genes in selected members of this cohort. We identified 10 mostly silent variants in ITGA2B and 37 in ITGB3; all were present in control donor databases...
November 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27431198/mir-338-inhibits-the-metastasis-of-lung-cancer-by-targeting-integrin-%C3%AE-3
#15
Xiao Chen, Li Wei, Song Zhao
miR-338 as an intronic miRNA from apoptosis-associated tyrosine kinase (AATK) is involved in tumor proliferation and apoptosis, but its function and regulatory mechanism in lung cancer is still obscure. In the present study, we found that miR-338 was strikingly downregulated in 115 lung cancer tissues and 5 lung cancer cell lines. Besides, low level of miR-338 was associated with tumor emboli, TNM stage, tumor recurrence and poor survival. Regaining the expression of miR-338 in lung cancer cell lines significantly impaired cellular adhesion, migration, invasion and lung tumor formation in nude mice...
September 2016: Oncology Reports
https://www.readbyqxmd.com/read/27340869/cooperation-between-alphavbeta3-integrin-and-the-fibroblast-growth-factor-receptor-enhances-proliferation-of-hox-overexpressing-acute-myeloid-leukemia-cells
#16
Chirag A Shah, Ling Bei, Hao Wang, Jessica K Altman, Leonidas C Platanias, Elizabeth A Eklund
A poor prognosis subtype of acute myeloid leukemia (AML) is characterized by increased expression of a set of homeodomain (HD) transcription factors, including HoxA9, HoxA10 and Cdx4. This encompasses AML with MLL1 gene translocations, because Mll1-fusion proteins aberrantly activate HOX transcription. We previously identified FGF2 (Fibroblast Growth Factor 2) as a target gene for HoxA9 and HoxA10 that was indirectly activated by Mll-Ell (an Mll1-fusion protein). Autocrine stimulation of Mll-Ell+ myeloid progenitor cells by Fgf2 stabilized βcatenin and increased expression of βcatenin target genes, including CDX4...
June 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27248172/integrin-alphavbeta3-enhances-%C3%AE-catenin-signaling-in-acute-myeloid-leukemia-harboring-fms-like-tyrosine-kinase-3-internal-tandem-duplication-mutations-implications-for-microenvironment-influence-on-sorafenib-sensitivity
#17
Hai Yi, Dongfeng Zeng, Zhaohua Shen, Jun Liao, Xiaoguo Wang, Yao Liu, Xi Zhang, Peiyan Kong
Binding of leukemia cells to the bone marrow extracellular matrix (ECM) through integrins might influence drug response and the survival of acute myeloid leukemia (AML). However, the functions of integrin in AML are needed to be clarified. Data from The Cancer Genome Atlas (TCGA) were retrieved and integrin β3 (ITGB3) expression and prognostic significance for AML were analyzed. Integrin alphavbeta3 (αvβ3) in sorafenib sensitivity and signaling pathway of FLT3-ITD AML cells was evaluated in vitro. The level of ITGB3 expression was positively correlated with risk stratification and prognosis of AML patients, especially in cytogenetic-normal patients with Fms-like tyrosine kinase-3 internal tandem duplication (FLT3-ITD) mutation...
May 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27239844/-gene-polymorphism-of-the-c-fms-itgb3-ccr2-and-dbh-genes-in-the-populations-of-old-believers-of-the-tyumen-oblast-and-russian-residents-of-novosibirsk
#18
M A Gubina, V N Babenko, D E Ivanoshchuk, A K Shuryaeva, O O Latieva, I G Solov'eva, M N Ponomareva, N A Konovalova, V N Maksimov, M I Voevoda
Old Believers of the Tyumen oblast have been studied compared with a control sample of Russian residents of the city of Novosibirsk. The former are a unique subpopulation, which has been relatively isolated from the rest of Russians in central and northern regions of Russia due to religious reasons since the middle of the 17th century. Polymorphisms in the genes for glycoprotein ITGB3, dopamine-β-hydroxylase (DBH), and chemokine receptor CCR2 and two mutations in the c-fms gene have been analyzed. The populations are only similar in the c-fms indel...
March 2016: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/27235135/novel-mutations-in-rasgrp2-which-encodes-caldag-gefi-abrogate-rap1-activation-causing-platelet-dysfunction
#19
María Luisa Lozano, Aaron Cook, José María Bastida, David S Paul, Gemma Iruin, Ana Rosa Cid, Rosa Adan-Pedroso, José Ramón González-Porras, Jesús María Hernández-Rivas, Sarah J Fletcher, Ben Johnson, Neil Morgan, Francisca Ferrer-Marin, Vicente Vicente, John Sondek, Steve P Watson, Wolfgang Bergmeier, José Rivera
In addition to mutations in ITG2B or ITGB3 genes that cause defective αIIbβ3 expression and/or function in Glanzmann's thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out activation of αIIbβ3 The RASGRP2 gene is strongly expressed in platelets and neutrophils, where its encoded protein CalDAG-GEFI facilitates the activation of Rap1 and subsequent activation of integrins. We used next-generation sequencing (NGS) and whole-exome sequencing (WES) to identify 2 novel function-disrupting mutations in RASGRP2 that account for bleeding diathesis and platelet dysfunction in 2 unrelated families...
September 1, 2016: Blood
https://www.readbyqxmd.com/read/27167340/rmel3-a-novel-brafv600e-associated-long-noncoding-rna-is-required-for-mapk-and-pi3k-signaling-in-melanoma
#20
Lucas Goedert, Cristiano G Pereira, Jason Roszik, Jessica R Plaça, Cibele Cardoso, Guo Chen, Wanleng Deng, Vashisht Gopal Yennu-Nanda, Wilson A Silva, Michael A Davies, Enilza M Espreafico
Previous work identified RMEL3 as a lncRNA with enriched expression in melanoma. Analysis of The Cancer Genome Atlas (TCGA) data confirmed RMEL3 enriched expression in melanoma and demonstrated its association with the presence of BRAFV600E. RMEL3 siRNA-mediated silencing markedly reduced (95%) colony formation in different BRAFV600E melanoma cell lines. Multiple genes of the MAPK and PI3K pathways found to be correlated with RMEL3 in TCGA samples were experimentally confirmed. RMEL3 knockdown led to downregulation of activators or effectors of these pathways, including FGF2, FGF3, DUSP6, ITGB3 and GNG2...
June 14, 2016: Oncotarget
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