Статті в журналах з теми "GP1BB"
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de Siqueira, Lucia Helena, Miriam P. Beltrame, Fernanda P. G. Cunha, Marina P. Colella, Joyce M. Annichino-Bizzacchi, Erich V. de Paula, and Margareth C. Ozelo. "Six Novel Mutations Identified in the Glycoproteins Ib Alpha, Ib Beta and IX Genes Among Twenty-Two Unrelated Patients with Bernard-Soulier Syndrome in Brazil." Blood 118, no. 21 (November 18, 2011): 1156. http://dx.doi.org/10.1182/blood.v118.21.1156.1156.
Повний текст джерелаBarozzi, Serena, Valeria Bozzi, Daniela De Rocco, Tania Giangregorio, Patrizia Noris, Anna Savoia та Alessandro Pecci. "A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly". International Journal of Molecular Sciences 22, № 19 (22 вересня 2021): 10190. http://dx.doi.org/10.3390/ijms221910190.
Повний текст джерелаTang, Jingrong, Sara Stern-Nezer, Po-Ching Liu, Ludmila Matyakhina, Michael Riordan, Naomi Luban, Peter Steinbach та Stephen Kaler. "Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ibβ impairs assembly of von Willebrand factor receptor". Thrombosis and Haemostasis 92, № 07 (2004): 75–88. http://dx.doi.org/10.1160/th04-02-0071.
Повний текст джерелаMekchay, Ponthip, Praewphan Ingrungruanglert, Kanya Suphapeetiporn, Darintr Sosothikul, Wilawan Ji-au, Supang Maneesri Le Grand, Nipan Israsena, and Ponlapat Rojnuckarin. "Study of Bernard–Soulier Syndrome Megakaryocytes and Platelets Using Patient-Derived Induced Pluripotent Stem Cells." Thrombosis and Haemostasis 119, no. 09 (July 28, 2019): 1461–70. http://dx.doi.org/10.1055/s-0039-1693409.
Повний текст джерелаSavoia, Anna, Shinji Kunishima, Patrizia Noris, Nuria Pujol-Moix, Dermot Kenny, Nurit Rosenberg, Margaret L. Rand, et al. "International Consortium for the Study of Clinical and Molecular Aspects of Bernard-Soulier Syndrome." Blood 118, no. 21 (November 18, 2011): 707. http://dx.doi.org/10.1182/blood.v118.21.707.707.
Повний текст джерелаBlanco-Luquin, Idoia, Blanca Acha, Amaya Urdánoz-Casado, Eva Gómez-Orte, Miren Roldan, Diego R. Pérez-Rodríguez, Juan Cabello, and Maite Mendioroz. "NXN Gene Epigenetic Changes in an Adult Neurogenesis Model of Alzheimer’s Disease." Cells 11, no. 7 (March 22, 2022): 1069. http://dx.doi.org/10.3390/cells11071069.
Повний текст джерелаSivapalaratnam, Suthesh, Sarah K. Westbury, Jonathan C. Stephens, Daniel Greene, Kate Downes, Anne M. Kelly, Claire Lentaigne, et al. "Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia." Blood 129, no. 4 (January 26, 2017): 520–24. http://dx.doi.org/10.1182/blood-2016-08-732248.
Повний текст джерелаSivapalaratnam, Suthesh, Willem Ouwehand, Bridge Consortium, and ThromboGenomics Consortium. "Rare Variants in GP1BB underlie Autosomal Dominant Macrothrombocytopenia; Findings of Large Unique Bleeding and Platelet Disorders Cohort." Blood 128, no. 22 (December 2, 2016): 1359. http://dx.doi.org/10.1182/blood.v128.22.1359.1359.
Повний текст джерелаBartsch, Ingrid, Kirstin Sandrock, Francois Lanza, Paquita Nurden, Ina Hainmann, Anna Pavlova, Andreas Greinacher, et al. "Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay." Thrombosis and Haemostasis 106, no. 09 (2011): 475–83. http://dx.doi.org/10.1160/th11-05-0305.
Повний текст джерелаLouzil, Jan, Jana Stikarova, Dana Provaznikova, Ingrid Hrachovinova, Tereza Fenclova, Jan Musil, Martin Radek, et al. "Diagnosing Czech Patients with Inherited Platelet Disorders." International Journal of Molecular Sciences 23, no. 22 (November 19, 2022): 14386. http://dx.doi.org/10.3390/ijms232214386.
Повний текст джерелаWunderlich, Frank, Denis Delic, Daniela Gerovska, and Marcos J. Araúzo-Bravo. "Vaccination Accelerates Liver-Intrinsic Expression of Megakaryocyte-Related Genes in Response to Blood-Stage Malaria." Vaccines 10, no. 2 (February 14, 2022): 287. http://dx.doi.org/10.3390/vaccines10020287.
Повний текст джерелаCutler, Jacky, Mike Mitchell, Hady Goubran, and Geoffrey F. Savidge. "Familial Bernard-Soulier Syndrome Due to a Novel Ins/Del Mutation in Glycoprotein IX." Blood 106, no. 11 (November 16, 2005): 2178. http://dx.doi.org/10.1182/blood.v106.11.2178.2178.
Повний текст джерелаFerrari, Silvia, Anna M. Lombardi, Irene Cortella, Maria A. Businaro, Antonella Bertomoro, Irene Di Pasquale, and Fabrizio Fabris. "New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia." British Journal of Haematology 184, no. 5 (March 12, 2018): 855–58. http://dx.doi.org/10.1111/bjh.15176.
Повний текст джерелаOved, Joseph H., Michele P. Lambert, M. Anna Kowalska, Mortimer Poncz, and Konrad Karczewski. "Analysis of the Frequency of Spontaneous, Functionally-Significant Mutations in Genes Associated with Platelet Disorders in >120,000 Healthy Individuals." Blood 132, Supplement 1 (November 29, 2018): 2438. http://dx.doi.org/10.1182/blood-2018-99-115567.
Повний текст джерелаLondon, Fredda S. "The PAR-1-Stimulated Platelet Subpopulation That Binds Factor Xa Also Expresses Matrixmetalloproteinase and Calpain Activities Resulting in Population-Specific GP1bα Shedding and Platelet Vesiculation." Blood 106, № 11 (16 листопада 2005): 3563. http://dx.doi.org/10.1182/blood.v106.11.3563.3563.
Повний текст джерелаAl-Numair, Nouf, Khushnooda Ramzan, Laila Alquait, Meshal Alshehri, Faiqa Imtiaz, and Tarek Owaidah. "A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard–Soulier syndrome." Blood Coagulation & Fibrinolysis 32, no. 5 (March 1, 2021): 352–55. http://dx.doi.org/10.1097/mbc.0000000000001027.
Повний текст джерелаVaisvilas, M., V. Dirse, B. Aleksiuniene, I. Tamuliene, L. Cimbalistiene, A. Utkus, and J. Rascon. "Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication." Balkan Journal of Medical Genetics 21, no. 1 (October 29, 2018): 87–91. http://dx.doi.org/10.2478/bjmg-2018-0002.
Повний текст джерелаSzelenberger, Rafał, Michał Seweryn Karbownik, Michał Kacprzak, Ewelina Synowiec, Sylwia Michlewska, Michał Bijak, Marzenna Zielińska, Alina Olender, and Joanna Saluk-Bijak. "Dysregulation in the Expression of Platelet Surface Receptors in Acute Coronary Syndrome Patients—Emphasis on P2Y12." Biology 11, no. 5 (April 22, 2022): 644. http://dx.doi.org/10.3390/biology11050644.
Повний текст джерелаPeck, Rachel C., Sarah Westbury, Lucy Fitzgibbon, Neil V. Morgan, Jose Rivera, Walter H. Kahr, Nihr BioResource, et al. "Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia." Blood 136, Supplement 1 (November 5, 2020): 34–35. http://dx.doi.org/10.1182/blood-2020-133987.
Повний текст джерелаGissi, Davide, Viscardo Fabbri, Andrea Gabusi, Jacopo Lenzi, Luca Morandi, Sofia Melotti, Sofia Asioli, et al. "Pre-Operative Evaluation of DNA Methylation Profile in Oral Squamous Cell Carcinoma Can Predict Tumor Aggressive Potential." International Journal of Molecular Sciences 21, no. 18 (September 14, 2020): 6691. http://dx.doi.org/10.3390/ijms21186691.
Повний текст джерелаMao, Xiaohong, Xin Zhang, Xiaowei Zheng, Yongwu Chen, Zixue Xuan, and Ping Huang. "Curcumin suppresses LGR5(+) colorectal cancer stem cells by inducing autophagy and via repressing TFAP2A-mediated ECM pathway." Journal of Natural Medicines 75, no. 3 (March 13, 2021): 590–601. http://dx.doi.org/10.1007/s11418-021-01505-1.
Повний текст джерелаMarkham, Stephen J., Lisa Bevilaqua, Haley Zarrin, Donna McDonald-McGinn, Elaine Zackai, and Michele P. Lambert. "Detecting 22q11.2 Deletion Syndrome Using Flow Cytometry." Blood 124, no. 21 (December 6, 2014): 4207. http://dx.doi.org/10.1182/blood.v124.21.4207.4207.
Повний текст джерелаRivera, Candido E., Prakash Vishnu, Gretchen Schaef Johns, Rajiv K. Pruthi, and Dong Chen. "Identification of a Novel Heterozygous Mutation (c.2213T>G;p.Leu738Arg) in Platelet Glycoprotein ITGB3 gene in a Patient with Glanzmann's Thrombasthenia." Blood 132, Supplement 1 (November 29, 2018): 1158. http://dx.doi.org/10.1182/blood-2018-99-117995.
Повний текст джерелаArter, Zhaohui Liao, Caitlin Yatogo, Michael C. Chicka, and Jeffrey L. Berenberg. "The Mystery of "Magic Blood" - Familial Macrothrombocytopenia Associated with a Novel Variant in GP1BA Gene." Blood 134, Supplement_1 (November 13, 2019): 2380. http://dx.doi.org/10.1182/blood-2019-122384.
Повний текст джерелаLian, Zheng, Milind Mahajan, Vincent Schulz, Erol Gulcicek, Diane Krause, and Sherman M. Weissman. "Intermediate Steps In Erythroid, Megakaryocytic and Myeloid Lineage Specification." Blood 116, no. 21 (November 19, 2010): 4778. http://dx.doi.org/10.1182/blood.v116.21.4778.4778.
Повний текст джерелаOnundarson, Pall Torfi, Elisabet R. Birgisdottir, Gudrun Bragadottir, Bylgja Hilmarsdottir, Brynja Gudmundsdottir, Brynjar Vidarsson, and Magnus K. Magnusson. "Bernard-Soulier in Iceland. Bleeding Symptoms and Platelet Parameters in Patients, Carriers and Controls." Blood 108, no. 11 (November 16, 2006): 1095. http://dx.doi.org/10.1182/blood.v108.11.1095.1095.
Повний текст джерелаBastida, Jose Maria, Mónica del Rey, Rocío Benito, Isabel Sanchez-Guiu, Susana Riesco, Maria Jesús Peñarrubia, Rosa Fisac, et al. "Design and Validate of Next-Generation Sequencing Panel for Inherited Platelet Disorders." Blood 124, no. 21 (December 6, 2014): 4210. http://dx.doi.org/10.1182/blood.v124.21.4210.4210.
Повний текст джерелаKitamura, Katsumasa, Yusuke Okuno, Kenichi Yoshida, Masashi Sanada, Yuichi Shiraishi, Hideki Muramatsu, Ryoji Kobayashi, et al. "Functional Characterization of a Novel GFI1B Mutation Causing Congenital Macrothrombocytopenia." Blood 126, no. 23 (December 3, 2015): 75. http://dx.doi.org/10.1182/blood.v126.23.75.75.
Повний текст джерелаNagy, Zoltan, Timo Vögtle, Mitchell J. Geer, Jun Mori, Silke Heising, Giada Di Nunzio, Ralph Gareus, et al. "The Gp1ba-Cre transgenic mouse: a new model to delineate platelet and leukocyte functions." Blood 133, no. 4 (January 24, 2019): 331–43. http://dx.doi.org/10.1182/blood-2018-09-877787.
Повний текст джерелаRabitzsch, G., J. Mair, P. Lechleitner, F. Noll, U. Hofmann, E. G. Krause, F. Dienstl, and B. Puschendorf. "Immunoenzymometric assay of human glycogen phosphorylase isoenzyme BB in diagnosis of ischemic myocardial injury." Clinical Chemistry 41, no. 7 (July 1, 1995): 966–78. http://dx.doi.org/10.1093/clinchem/41.7.966.
Повний текст джерелаPark, Kwang-Yeol, Ilknur Ay, Ross Avery, Juan Alfredo Caceres, Matthew S. Siket, Octavio M. Pontes-Neto, Hui Zheng, et al. "New biomarker for acute ischaemic stroke: plasma glycogen phosphorylase isoenzyme BB." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 4 (October 13, 2017): 404–9. http://dx.doi.org/10.1136/jnnp-2017-316084.
Повний текст джерелаBray, Paul F., Timothy D. Howard, Eric Vittinghoff, David C. Sane та David M. Herrington. "Effect of genetic variations in platelet glycoproteins Ibα and VI on the risk for coronary heart disease events in postmenopausal women taking hormone therapy". Blood 109, № 5 (14 листопада 2006): 1862–69. http://dx.doi.org/10.1182/blood-2006-03-013151.
Повний текст джерелаUddin, Md Main, Mostafa M. H. Ibrahim, and Karen P. Briski. "Glycogen Phosphorylase Isoform Regulation of Ventromedial Hypothalamic Nucleus Gluco-Regulatory Neuron 5′-AMP-Activated Protein Kinase and Transmitter Marker Protein Expression." ASN Neuro 13 (January 2021): 175909142110350. http://dx.doi.org/10.1177/17590914211035020.
Повний текст джерелаDi, Jia-Yin, Zong-Xin Zhang, and Shao-Jun Xin. "Glycogen Phosphorylase Isoenzyme Bb, Myoglobin and BNP in ANT-Induced Cardiotoxicity." Open Life Sciences 13, no. 1 (December 31, 2018): 561–68. http://dx.doi.org/10.1515/biol-2018-0067.
Повний текст джерелаSkalníková, Magdalena, Kateřina Staňo Kozubík, Jakub Trizuljak, Zuzana Vrzalová, Lenka Radová, Kamila Réblová, Radka Holbová, et al. "A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome." International Journal of Molecular Sciences 23, no. 2 (January 14, 2022): 885. http://dx.doi.org/10.3390/ijms23020885.
Повний текст джерелаGollomp, Kandace, and Mortimer Poncz. "Gp1ba-Cre or Pf4-Cre: pick your poison." Blood 133, no. 4 (January 24, 2019): 287–88. http://dx.doi.org/10.1182/blood-2018-11-887513.
Повний текст джерелаKruse, Alexandra, Alexa M. Sughroue, Patrick Morrissey, Claudia Tchatchouang, Guangheng Zhu, Marina Izak, Heyu Ni, and James B. Bussel. "Response to TPO-Receptor Agonists: Role of Immature Platelet Fraction and Anti-GP1b." Blood 124, no. 21 (December 6, 2014): 4190. http://dx.doi.org/10.1182/blood.v124.21.4190.4190.
Повний текст джерелаHamilton, Alexander, Margareth Ozelo, Jayne Leggo, Colleen Notley, Hannah Brown, Juan Pablo Frontroth, Anne Angelillo-Scherrer, et al. "Frequency of Platelet type versus Type 2B von Willebrand Disease." Thrombosis and Haemostasis 105, no. 03 (2011): 501–8. http://dx.doi.org/10.1160/th10-08-0523.
Повний текст джерелаAnnarapu, Gowtham K., Rashi Singhal, Avinash Gupta, Sheetal Chawla, Harish Batra, Tulika Seth та Prasenjit Guchhait. "HbS Binding to GP1bα Activates Platelets in Sickle Cell Disease". PLOS ONE 11, № 12 (9 грудня 2016): e0167899. http://dx.doi.org/10.1371/journal.pone.0167899.
Повний текст джерелаGhalloussi, Dorsaf, Noémie Saut, Denis Bernot, Xavier Pillois, Philippe Rameau, Gérard Sébahoun, Marie-Christine Alessi, Hana Raslova, and Véronique Baccini. "A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia." British Journal of Haematology 183, no. 3 (October 30, 2017): 503–6. http://dx.doi.org/10.1111/bjh.14986.
Повний текст джерелаOthman, Maha, and Jonas Emsley. "Gene of the issue: GP1BA gene mutations associated with bleeding." Platelets 28, no. 8 (September 29, 2017): 832–36. http://dx.doi.org/10.1080/09537104.2017.1361526.
Повний текст джерелаBury, Loredana, Emanuela Falcinelli, Haripriya Kuchi Bhotla, Anna Maria Mezzasoma, Giuseppe Guglielmini, Alexander Tischer, Laurie Moon-Tasson, Matthew Auton та Paolo Gresele. "A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD". Blood Advances 6, № 7 (1 квітня 2022): 2236–46. http://dx.doi.org/10.1182/bloodadvances.2021005463.
Повний текст джерелаWoods, Adriana, Analia Sanchez-Luceros, Emilse Bermejo, Juvenal Paiva, Maria Alberto, Silvia Grosso, Ana Kempfer, and Maria Lazzari. "Identification of p.W246L As a Novel Mutation in the GP1BA Gene Responsible for Platelet-Type von Willebrand Disease." Seminars in Thrombosis and Hemostasis 40, no. 02 (January 28, 2014): 151–60. http://dx.doi.org/10.1055/s-0033-1364183.
Повний текст джерелаSullivan, Spencer K., Jason A. Mills, Sevasti B. Koukouritaki, Karen K. Vo, Randolph B. Lyde, Prasuna Paluru, Guoha Zhao, et al. "High-level transgene expression in induced pluripotent stem cell–derived megakaryocytes: correction of Glanzmann thrombasthenia." Blood 123, no. 5 (January 30, 2014): 753–57. http://dx.doi.org/10.1182/blood-2013-10-530725.
Повний текст джерелаBurdorf, L., T. Zhang, E. Rybak, I. I. Salles, K. Broos, E. Welty, C. Avon, et al. "295 Blocking GP1b-vWF Interaction by Anti-GP1b Fab Reduces Activation and Sequestration of Platelets in a Xenogeneic Pig Lung Perfusion Model." Journal of Heart and Lung Transplantation 30, no. 4 (April 2011): S103. http://dx.doi.org/10.1016/j.healun.2011.01.302.
Повний текст джерелаMazzeffi, Michael, Shaheer Hasan, Ezeldeen Abuelkasem, Michael Meyer, Kristopher Deatrick, Bradley Taylor, Zachary Kon, Daniel Herr та Kenichi Tanaka. "Von Willebrand Factor-GP1bα Interactions in Venoarterial Extracorporeal Membrane Oxygenation Patients". Journal of Cardiothoracic and Vascular Anesthesia 33, № 8 (серпень 2019): 2125–32. http://dx.doi.org/10.1053/j.jvca.2018.11.031.
Повний текст джерелаÖzdemir, Zeynep C., Yeter Düzenli Kar, Serdar Ceylaner, and Özcan Bör. "A novel mutation in the GP1BA gene in Bernard–Soulier syndrome." Blood Coagulation & Fibrinolysis 31, no. 1 (January 2020): 83–86. http://dx.doi.org/10.1097/mbc.0000000000000868.
Повний текст джерелаStavnichuk, Mariya, Zoltan Nagy, Yotis A. Senis, and Svetlana V. Komarova. "Megakaryocyte-Driven Myelofibrosis Leads to Progressive Osteosclerosis in G6b-B Knockout Mice." Blood 134, Supplement_1 (November 13, 2019): 4199. http://dx.doi.org/10.1182/blood-2019-124186.
Повний текст джерелаNapit, Prabhat R., Abdulrahman Alhamyani, Khaggeswar Bheemanapally, Paul W. Sylvester, and Karen P. Briski. "Sex-Dimorphic Glucocorticoid Receptor Regulation of Hypothalamic Primary Astrocyte Glycogen Metabolism: Interaction with Norepinephrine." Neuroglia 3, no. 4 (November 17, 2022): 144–57. http://dx.doi.org/10.3390/neuroglia3040010.
Повний текст джерелаBadolia, Rachit, John Kostyak, Carol Dangelmaier, and Satya Kunapuli. "Syk Activity Is Dispensable for Platelet GP1b-IX-V Signaling." International Journal of Molecular Sciences 18, no. 6 (June 9, 2017): 1238. http://dx.doi.org/10.3390/ijms18061238.
Повний текст джерела