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https://www.readbyqxmd.com/read/28888044/novel-mutations-in-thai-patients-with-glanzmann-thrombasthenia
#1
Rungnapa Ittiwut, Pintip Suchartlikitwong, Yaowaree Kittikalayawong, Chupong Ittiwut, Karan Prasopsanti, Darintr Sosothikul, Vorasuk Shotelersuk, Kanya Suphapeetiporn
OBJECTIVES: Glanzmann thrombasthenia (GT) is an autosomal recessive platelet disorder, caused by defects of the platelet integrin αIIbβ3 (GPIIb/IIIa) resulting from pathogenic mutations in either ITGA2B or ITGB3. It is characterized by spontaneous mucocutaneous bleeding. The molecular features of GT in Thailand have not been identified. This study aimed to determine the clinical and molecular features of unrelated Thai patients with GT. METHODS: Four patients with clinically suspected GT were recruited at the Division of Pediatric Hematology/Oncology, King Chulalongkorn Memorial Hospital...
September 9, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28837027/expression-of-pgr-hbegf-itgav-itgb3-and-spp1-genes-in-eutopic-endometrium-of-infertile-women-with-endometriosis-during-the-implantation-window-a-pilot-study
#2
Michele G Da Broi, Carlos V Rocha, Juliana Meola, Wellington P Martins, Filomena M Carvalho, Rui A Ferriani, Paula A Navarro
OBJECTIVE: Alterations in endometrial receptivity may be involved in the etiopathogenesis of endometriosis-related infertility. The literature has suggested that patients with endometriosis present progestin resistance, which could affect embryo implantation. We question the presence of alterations in the expression of the progesterone receptor gene (PGR) and the genes related to endometrium-embryo interaction regulated by progesterone. This pilot study compared the expression of PGR, HBEGF, ITGAV, ITGB3, and SPP1 genes in eutopic endometrium during the implantation window (IW) in infertile women with endometriosis with that observed in the endometrium of fertile and infertile controls...
September 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28726667/clinical-and-genetic-peculiarities-of-vascular-manifestations-of-antiphospholipid-syndrome-case-report
#3
D Vasylyev, L Chernobay, O Vasylieva, M Oliinyk, M Vashuk
Pathogenetic mechanisms of the development of antiphospholipid syndrome (APS) are considered in the article, which is the basis for the development of clinical manifestations and laboratory markers of APS. The modern literature data are analyzed, according to which the presence of antiphospholipid antibodies is a hypercoagulable background, and the formation of thrombi occurs under the influence of other allowing procoagulation factors. The classification of the main types of hereditary thrombophilia is given, which is the primary disorder, against the background of which an autoimmune thrombosis APS develops...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28664150/coexpression-and-expression-quantitative-trait-loci-analyses-of-the-angiogenesis-gene-gene-interaction-network-in-prostate-cancer
#4
Hui-Yi Lin, Chia-Ho Cheng, Dung-Tsa Chen, Y Ann Chen, Jong Y Park
BACKGROUND: Prostate cancer (PCa) shows a substantial clinical heterogeneity. The existing risk classification for PCa prognosis based on clinical factors is not sufficient. Although some biomarkers for PCa aggressiveness have been identified, their underlying functional mechanisms are still unclear. We previously reported a gene-gene interaction network associated with PCa aggressiveness based on single nucleotide polymorphism (SNP)-SNP interactions in the angiogenesis pathway. The goal of this study is to investigate potential functional evidence of the involvement of the genes in this gene-gene interaction network...
October 2016: Translational Cancer Research
https://www.readbyqxmd.com/read/28631703/-association-of-itgb3-p2ry12-and-cyp2c19-gene-polymorphisms-with-platelet-functional-activity-in-patients-with-coronary-heart-disease-during-dual-antiplatelet-therapy
#5
E F Muslimova, S A Afanasiev, T Yu Rebrova, T N Sergienko, A N Repin
AIM: To assess the association of CYP2C19 G681A, P2RY12 H1/H2, and ITGB3 T1565C polymorphisms with the extent of platelet aggregation in patients with coronary heart disease (CHD) during antiplatelet therapy. SUBJECTS AND METHODS: 166 male patients with CHD, living in the Western Siberian Region, were examined. All the patients underwent a test for platelet aggregation induced by ADP (2.5 and 5.0 µm) and epinephrine (0.2 µm). Genotyping was performed using an allele-specific polymerase chain reaction technique...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28625360/hypoxia-primed-placental-mesenchymal-stem-cells-for-wound-healing
#6
Suja Ann Mathew, Bhawna Chandravanshi, Ramesh Bhonde
AIMS: To investigate how Placental Mesenchymal Stem Cells (P-MSCs) would adapt themselves and survive under hypoxic conditions which are prevalent in most injury sites. MAIN METHODS: P-MSCs were isolated from term placenta and characterised under normoxia and hypoxia (2-2.5% O2). Cells were examined for morphology and surface marker variations by flow cytometry analysis. Glucose stimulated insulin secretion was assayed by Insulin ELISA Kit. Gene expression levels were estimated using Real Time PCR for hypoxia inducible factor1 alpha, Insulin (INS), Glucose transporters (GLUT-1, GLUT-2 and GLUT-3), Adhesion Proteins- Integrins, Fibronectin1 (FN1), E-Cadherin (CDH1), and N-Cadherin (CDH2) and angiogenesis marker VEGFA...
August 1, 2017: Life Sciences
https://www.readbyqxmd.com/read/28534928/music-genetics-research-association-with-musicality-of-a-polymorphism-in-the-avpr1a-gene
#7
Luiza Monteavaro Mariath, Alexandre Mauat da Silva, Thayne Woycinck Kowalski, Gustavo Schulz Gattino, Gustavo Andrade de Araujo, Felipe Grahl Figueiredo, Alice Tagliani-Ribeiro, Tatiana Roman, Fernanda Sales Luiz Vianna, Lavínia Schuler-Faccini, Jaqueline Bohrer Schuch
Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype...
April 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28521460/n-myc-downstream-regulated-gene-1-inhibits-the-proliferation-and-invasion-of-hepatocellular-carcinoma-cells-via-the-regulation-of-integrin-%C3%AE-3
#8
Yan Song, Guangping Wu, Mingyang Zhang, Qianqian Kong, Juan Du, Yabing Zheng, Longtao Yue, Lili Cao
N-myc downstream-regulated gene 1 (NDRG1) is a multifunctional protein associated with carcinogenesis and tumor progression. The function of NDRG1 in hepatocellular carcinoma (HCC) cells remains controversial. The present study investigated the role of NDRG1 in HCC as well as its molecular mechanism using a range of techniques, including western blot analysis, cellular proliferation test, wound healing assay and Transwell assay. In HCC, the levels of NDRG1 expression were highest in the cytoplasm, followed by the membrane, and were lowest in the nucleus...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28395882/should-studies-on-glanzmann-thrombasthenia-not-be-telling-us-more-about-cardiovascular-disease-and-other-major-illnesses
#9
REVIEW
Alan T Nurden
Glanzmann thrombasthenia (GT) is a rare inherited bleeding disorder caused by loss of αIIbβ3 integrin function in platelets. Most genetic variants of β3 also affect the widely expressed αvβ3 integrin. With brief mention of mouse models, I now look at the consequences of disease-causing ITGA2B and ITGB3 mutations on the non-hemostatic functions of platelets and other cells. Reports of arterial thrombosis in GT patients are rare, but other aspects of cardiovascular disease do occur including deep vein thrombosis and congenital heart defects...
April 4, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28370162/simultaneous-human-platelet-antigen-genotyping-and-detection-of-novel-single-nucleotide-polymorphisms-by-targeted-next-generation-sequencing
#10
Sue Davey, Cristina Navarrete, Colin Brown
BACKGROUND: Twenty-nine human platelet antigen systems have been described to date, but the majority of current genotyping methods are restricted to the identification of those most commonly associated with alloantibody production in a clinical context. This can result in a protracted investigation if causative human platelet antigens are rare or novel. A targeted next-generation sequencing approach was designed to detect all known human platelet antigens with the additional capability of identifying novel mutations in the encoding genes...
June 2017: Transfusion
https://www.readbyqxmd.com/read/28370062/simultaneous-genotyping-of-human-platelet-alloantigen-1-to-28bw-systems-by-multiplex-polymerase-chain-reaction-sequence-based-typing
#11
X Hong, S Chen, Y Ying, Y Liu, X Xu, J He, F Zhu
BACKGROUND AND OBJECTIVES: Human platelet alloantigen (HPA) genotyping is important for the diagnosis and prevention the alloimmune platelet disorders. In this study, a simultaneous genotyping method for HPA-1 to -28bw systems was established using multiplex PCR-SBT and the frequencies of genotypes and alleles of HPA-1 to -28bw systems in the Zhejiang Han population were analysed. MATERIALS AND METHODS: The specific primers were designed according to the nucleotide sequences of HPA-1 to 28bw systems which are located in ITGB3, GP1BA, ITGA2B, ITGA2, GP1BB and CD109, respectively...
March 31, 2017: Vox Sanguinis
https://www.readbyqxmd.com/read/28358707/polymorphisms-of-platelet-glycoprotein-receptors-and-cell-adhesion-molecules-in-fetuses-with-fetal-growth-restriction-and-their-mothers-as-detected-with-pyrosequencing
#12
Maria Simou, Evaggelia Kouskouni, Nikolaos Vitoratos, Emmanuel Economou, George Creatsas
BACKGROUND: Vascular thrombotic tendency may lead to fetal growth restriction (FGR). Altered platelet function and genetic heterogeneity may play a role in this procedure. We investigated whether maternal or fetal genotypic frequencies of genes polymorphisms for certain platelet receptor and cell adhesion molecules are altered in FGR. MATERIALS AND METHODS: We compared the maternal and fetal genotypic frequencies of single nucleotide polymorphisms (SNPs) in four genes coding for platelet receptors and cell adhesion molecules [integrin alpha subunit 2 (ITGA2)C807T, integrin subunit beta 3(ITGB3) T1565C, platelet cell adhesion protein 1 (PECAM1) CTG-GTG and selectin P(SELP)A/C]...
March 2017: In Vivo
https://www.readbyqxmd.com/read/28318110/on-the-association-analysis-of-genome-sequencing-data-a-spatial-clustering-approach-for-partitioning-the-entire-genome-into-nonoverlapping-windows
#13
Heide Loehlein Fier, Dmitry Prokopenko, Julian Hecker, Michael H Cho, Edwin K Silverman, Scott T Weiss, Rudolph E Tanzi, Christoph Lange
For the association analysis of whole-genome sequencing (WGS) studies, we propose an efficient and fast spatial-clustering algorithm. Compared to existing analysis approaches for WGS data, that define the tested regions either by sliding or consecutive windows of fixed sizes along variants, a meaningful grouping of nearby variants into consecutive regions has the advantage that, compared to sliding window approaches, the number of tested regions is likely to be smaller. In comparison to consecutive, fixed-window approaches, our approach is likely to group nearby variants together...
May 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28273461/integrin-beta-3-regulates-cellular-senescence-by-activating-the-tgf-%C3%AE-pathway
#14
Valentina Rapisarda, Michela Borghesan, Veronica Miguela, Vesela Encheva, Ambrosius P Snijders, Amaia Lujambio, Ana O'Loghlen
Cellular senescence is an important in vivo mechanism that prevents the propagation of damaged cells. However, the precise mechanisms regulating senescence are not well characterized. Here, we find that ITGB3 (integrin beta 3 or β3) is regulated by the Polycomb protein CBX7. β3 expression accelerates the onset of senescence in human primary fibroblasts by activating the transforming growth factor β (TGF-β) pathway in a cell-autonomous and non-cell-autonomous manner. β3 levels are dynamically increased during oncogene-induced senescence (OIS) through CBX7 Polycomb regulation, and downregulation of β3 levels overrides OIS and therapy-induced senescence (TIS), independently of its ligand-binding activity...
March 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/28250242/itgav-alpha-v-integrins-bind-spp1-osteopontin-to-support-trophoblast-cell-adhesion
#15
James W Frank, Heewon Seo, Robert C Burghardt, Kayla J Bayless, Gregory A Johnson
Attachment of the conceptus trophoblast (Tr) to the uterine luminal epithelium (LE) is critical for successful implantation. This study determined whether alpha v (av) integrins (ITGAV) directly mediate porcine trophoblast cell adhesion to secreted phosphoprotein 1 [SPP1, also known as osteopontin (OPN)], and examined the temporal/spatial expression of ITGAV, beta 3 (b3, ITGB3) and beta 6 (b6, ITGB6) integrin subunits, and SPP1, at the uterine-placental interface of pigs. Knockdown of ITGAV in a porcine Tr (pTr2) cells by siRNA reduced pTr2 attachment to SPP1...
March 1, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28186591/-application-of-recombinant-gp%C3%A2-a-combined-luminex-beads-for-the-detection-of-hpa-1a-antibody
#16
Sudan Tao, Ying Liu, Yanming He, Yanling Ying, Ji He, Faming Zhu
OBJECTIVE: To generate recombinant GPⅢa as an alternative source for HPA-1a antigen and combine it with Luminex xMAP beads for the detection of HPA-1a-specific alloantibody. METHODS: The full coding region of ITGB3 gene was amplified and ligated with pcDNA3.1. The recombinant plasmid was transfected into CHO cells, and those with stable expression were screened with G418. Expressed protein was identified and coupled with Luminex xMAP beads, which were then reacted with sera samples...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28135763/the-cyp2c19-2-and-cyp2c19-17-polymorphisms-play-a-vital-role-in-clopidogrel-responsiveness-after-percutaneous-coronary-intervention-a-pharmacogenomics-study
#17
Faruk Saydam, İrfan Değirmenci, Alparslan Birdane, Mahmut Özdemir, Taner Ulus, Cansu Özbayer, Ertuğrul Çolak, Necmi Ata, Hasan Veysi Güneş
Clopidogrel inhibits platelet activation and aggregation by blocking the P2Y12 receptor. Dual antiplatelet therapy with clopidogrel and aspirin is recommended treatment by current guidelines for patients undergoing percutaneous interventions. Recurrent ischaemic cardiac events after this treatment showed lack of clopidogrel responsiveness. We aimed to investigate the most noticeable variants in the genes involved in clopidogrel pharmacokinetics and pharmacodynamics. A total of 347 Turkish patients who underwent percutaneous coronary interventions with stent implantation were included in our study...
January 30, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28096474/junb-regulates-angiogenesis-and-neurovascular-parallel-alignment-in-mouse-embryonic-skin
#18
Yasuo Yoshitomi, Takayuki Ikeda, Hidehito Saito, Yoshino Yoshitake, Yasuhito Ishigaki, Toshihisa Hatta, Nobuo Kato, Hideto Yonekura
Blood vessels and nerve fibers are often closely arranged in parallel throughout the body. Therefore, neurovascular interactions have been suggested to be important for the development of vascular networks. However, the molecular mechanisms and genes regulating this process remain unclear. In the present study, we investigated the genes that are activated in endothelial cells (ECs) following interactions with neurons during vascular development. Microarray analyses of human primary microvascular ECs co-cultured with mouse primary dorsal root ganglion cells showed that JunB is strongly upregulated in ECs by neurovascular interactions...
March 1, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/27965976/identification-of-itga2b-and-itgb3-single-nucleotide-polymorphisms-and-their-influences-on-the-platelet-function
#19
Qian Xiang, Shun-Dong Ji, Zhuo Zhang, Xia Zhao, Yi-Min Cui
The aim of the study was to investigate ITGA2B and ITGB3 genetic polymorphisms and to evaluate the variability in the platelet function in healthy Chinese subjects. The genetic sequence of the entire coding region of the ITGA2B and ITGB3 genes was investigated. Adenosine diphosphate-induced platelet aggregation, glycoprotein IIb/IIIa content, bleeding time, and coagulation indexes were detected. Thirteen variants in the ITGA2B locus and 29 variants in the ITGB3 locus were identified in the Chinese population...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27940296/induction-of-type-1-iodothyronine-deiodinase-expression-inhibits-proliferation-and-migration-of-renal-cancer-cells
#20
Piotr Poplawski, Beata Rybicka, Joanna Boguslawska, Katarzyna Rodzik, Theo J Visser, Alicja Nauman, Agnieszka Piekielko-Witkowska
Type 1 iodothyronine deiodinase (DIO1) regulates peripheral metabolism of thyroid hormones that control cellular proliferation, differentiation and metabolism. The significance of DIO1 in cancer is unknown. In this study we hypothesized that diminished expression of DIO1, observed in renal cancer, contributes to the carcinogenic process in the kidney. Here, we demonstrate that ectopic expression of DIO1 in renal cancer cells changes the expression of genes controlling cell cycle, including cyclin E1 and E2F5, and results in inhibition of proliferation...
February 15, 2017: Molecular and Cellular Endocrinology
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