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https://www.readbyqxmd.com/read/29296966/an-intracytoplasmic-%C3%AE-3-leu718-deletion-in-a-patient-with-a-novel-platelet-phenotype
#1
Paquita Nurden, Jean-Claude Bordet, Xavier Pillois, Alan T Nurden
A novel heterozygous ITGB3 Leu718del shows loss of synchronization between the intracytoplasmic tail of β3 with that of αIIb.Decreased activation of αIIbβ3 accompanies enlarged platelets that contain giant granules and give a poor aggregation response.
March 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/29247646/incomplete-clearance-of-apoptotic-cells-by-core-1-derived-o-glycan-deficient-resident-peritoneal-macrophages
#2
Hiromasa Wakui, Sayaka Fuseya, Riku Suzuki, Miki Shimbo, Risa Okada, Mitchito Hamada, Akihiro Kuno, Kozue Hagiwara, Takashi Sato, Hisashi Narimatsu, Takashi Kudo, Satoru Takahashi
The core 1 β1,3-galactosyltransferase-specific molecular chaperon (Cosmc) is essential for the synthesis of the core 1 structure of mucin-type O-glycans. To clarify the physiological role of core 1-derived O-glycans in macrophages, we exploited the LysM-Cre transgene to generate a conditional Cosmc mutant allele (conditional Cosmc knockout; cKO) in myeloid cells. cKO mice developed normally with no gross phenotypic abnormalities or abnormal peripheral blood counts. Resident peritoneal macrophages (rpMacs) of cKO mice exhibited impaired engulfment of apoptotic cells but showed normal macrophage differentiation and counts...
December 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29163031/microrna-mediated-regulation-of-itgb3-and-chl1-is-implicated-in-ssri-action
#3
Keren Oved, Luba Farberov, Avial Gilam, Ifat Israel, Danielle Haguel, David Gurwitz, Noam Shomron
Background: Selective serotonin reuptake inhibitor (SSRI) antidepressant drugs are the first-line of treatment for major depressive disorder (MDD) but are effective in <70% of patients. Our earlier genome-wide studies indicated that two genes encoding for cell adhesion proteins, close homolog of L1 (CHL1) and integrin beta-3 (ITGB3), and microRNAs, miR-151a-3p and miR-221/222, are implicated in the variable sensitivity and response of human lymphoblastoid cell lines (LCL) from unrelated individuals to SSRI drugs...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29151962/insufficient-radiofrequency-ablation-treated-hepatocellular-carcinoma-cells-promote-metastasis-by-up-regulation-itgb3
#4
Ning Zhang, Dening Ma, Lu Wang, Xiaodong Zhu, Qi Pan, Yiming Zhao, Weiping Zhu, Jiamin Zhou, Longrong Wang, Zongtao Chai, Jianyang Ao, Huichuan Sun, Zhaoyou Tang
Radiofrequency ablation (RFA) is one of the standards of care for early stage hepatocellular carcinoma (HCC). However, rapid progression of residual tumor after RFA has been confirmed. The aim of this study was to investigate the underlying mechanism of this phenomenon. Human HCC cell lines HCCLM3 and HepG2 were employed to establish insufficient RFA models in vivo and in vitro, respectively. The effects of insufficient RFA on metastatic potential of residual tumors were evaluated. The molecular changes after insufficient RFA were evaluated by PCR array, western blot, immunofluorescence, and immunohistochemistry...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/29143464/mean-platelet-diameter-measurements-to-classify-inherited-thrombocytopenias
#5
K Fixter, D J Rabbolini, B Valecha, M-C Morel-Kopp, S Gabrielli, Q Chen, W S Stevenson, C M Ward
INTRODUCTION: Mean platelet volume (MPV) assists the differential diagnosis of inherited thrombocytopenia (IT) but lacks standardisation and varies between automated analysers. Classification of IT based on mean platelet diameter (MPD) has been proposed by an international collaborative study but has not been validated. METHODS: To assess the applicability of MPD to classify forms of IT, digital images of blood films from patients with established genetic causes for IT were generated, and the MPD measured (ZEISS Axio-scanner and Image J software) by a blinded reviewer...
November 16, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29125375/itga2b-and-itgb3-gene-mutations-associated-with-glanzmann-thrombasthenia
#6
Alan T Nurden, Xavier Pillois
No abstract text is available yet for this article.
November 10, 2017: Platelets
https://www.readbyqxmd.com/read/29118976/impact-of-hormonal-modulation-at-proestrus-on-ovarian-responses-and-uterine-gene-expression-of-suckled-anestrous-beef-cows
#7
Manoel Francisco de Sá Filho, Angela Maria Gonella-Diaza, Mariana Sponchiado, Marcio Ferreira Mendanha, Guilherme Pugliesi, Roney Dos Santos Ramos, Sónia Cristina da Silva Andrade, Gustavo Gasparin, Luiz Lehmann Coutinho, Marcelo Demarchi Goissis, Fernando Silveira Mesquita, Pietro Sampaio Baruselli, Mario Binelli
Background: This study evaluated the impact of hormonal modulation at the onset of proestrus on ovarian response and uterine gene expression of beef cows. Methods: A total of 172 anestrous beef cows were assigned to one of four groups according to the treatment with estradiol cypionate (ECP) and/or equine chorionic gonadotropin (eCG) [CON (n = 43), ECP (n = 43), eCG (n = 44) and ECP + eCG (n = 42)]. Results: ECP-treated cows (ECP and ECP + eCG groups) presented greater occurrence of estrus (44...
2017: Journal of Animal Science and Biotechnology
https://www.readbyqxmd.com/read/29090484/mutations-of-the-integrin-%C3%AE-iib-%C3%AE-3-intracytoplasmic-salt-bridge-cause-macrothrombocytopenia-and-enlarged-platelet-%C3%AE-granules
#8
Marie Favier, Jean-Claude Bordet, Remi Favier, Vasiliki Gkalea, Xavier Pillois, Philippe Rameau, Najet Debili, Marie-Christine Alessi, Paquita Nurden, Hana Raslova, Alan Nurden
Rare gain-of-function mutations within the ITGA2B or ITGB3 genes have been recognized to cause macrothrombocytopenia (MTP). Here we report three new families with autosomal dominant (AD) MTP, two harboring the same mutation of ITGA2B, αIIbR995W, and a third family with an ITGB3 mutation, β3D723H. In silico analysis shows how the two mutated amino acids directly modify the salt bridge linking the intra-cytoplasmic part of αIIb to β3 of the integrin αIIbβ3. For all affected patients, the bleeding syndrome and MTP was mild to moderate...
November 1, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29084015/molecular-characterization-of-glanzmann-s-thrombasthenia-in-iran-identification-of-three-novel-mutations
#9
Ahmad Kazemi, Hassan Abolghasemi, Shima Kazemzadeh, Reza Vahidi, Mohammad Faranoush, Alireza Farsinejad, Fereydoun Ala
: Quantitative and/or qualitative defects of the platelet membrane glycoprotein IIb/IIIa complex lead to the clinical entity of Glanzmann's thrombasthenia. A large variety of mutations and polymorphisms are responsible for the aberrant expression and defective activity of this heterodimeric complex. The current study aimed to determine the pattern of mutations among Iranian population with Glanzmann's thrombasthenia. A total of 20 patients with Glanzmann's thrombasthenia have been evaluated. All exons and splice sites of ITGA2B and ITGB3 genes were amplified using touchdown PCR...
December 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29038237/the-gain-of-function-integrin-%C3%AE-3-pro33-variant-alters-the-serotonin-system-in-the-mouse-brain
#10
Michael R Dohn, Christopher G Kooker, Lisa Bastarache, Tammy Jessen, Capria Rinaldi, Seth Varney, Matthew D Mazalouskas, Hope Pan, Kendra H Oliver, Digna R Velez Edwards, James S Sutcliffe, Joshua C Denny, Ana M D Carneiro
Engagement of integrins by the extracellular matrix initiates signaling cascades that drive a variety of cellular functions, including neuronal migration and axonal pathfinding in the brain. Multiple lines of evidence link the ITGB3 gene encoding the integrin β3 subunit with the serotonin (5-HT) system, likely via its modulation of the 5-HT transporter (SERT). The ITGB3 coding polymorphism Leu33Pro (rs5918, Pl(A2)) produces hyperactive αvβ3 receptors that influence whole blood 5-HT levels and may influence risk for autism spectrum disorder (ASD)...
October 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29025069/wnk-lysine-deficient-protein-kinase-1-regulates-human-endometrial-stromal-cell-decidualization-proliferation-and-migration-in-part-through-mitogen-activated-protein-kinase-7
#11
Nyssa R Adams, Yasmin M Vasquez, Qianxing Mo, William Gibbons, Ertug Kovanci, Francesco J DeMayo
The differentiation of endometrial stromal cells into decidual cells, termed decidualization, is an integral step in the establishment of pregnancy. The mitogen-activated protein kinase homolog, WNK lysine deficient protein kinase 1 (WNK1), is activated downstream of epidermal growth factor receptor during decidualization. Primary human endometrial stromal cells (HESCs) were subjected to small interfering RNA knockdown of WNK1 followed by in vitro decidualization. This abrogated expression of the decidual marker genes, insulin like growth factor binding protein 1 (IGFBP1) and prolactin (PRL), and prevented adoption of decidual cell morphology...
September 1, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28888044/novel-mutations-in-thai-patients-with-glanzmann-thrombasthenia
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
September 2017: Blood Reviews
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