Статті в журналах з теми "GP1BA"
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Peck, 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 джерелаde 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 джерелаShen, Jun, Xiao-Chang Chen, Wang-Jun Li, Qiu Han, Chun Chen, Jing-Min Lu, Jin-Yu Zheng, and Shou-Ru Xue. "Identification of Parkinson’s disease-related pathways and potential risk factors." Journal of International Medical Research 48, no. 10 (October 2020): 030006052095719. http://dx.doi.org/10.1177/0300060520957197.
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 джерелаOthman, M. "Differential identification of PT-VWD from type 2B VWD and GP1BA nomenclature issues." British Journal of Haematology 142, no. 2 (July 2008): 312–14. http://dx.doi.org/10.1111/j.1365-2141.2008.07171.x.
Повний текст джерелаMohamed, Sara, Martina Di Palma, Michela Faleschini, Daniela De Benedittis, Maria Luisa Moleti, Luisa Cardarelli, Anna Maria Testi, Giovanna Palumbo, Anna Savoia, and Fiorina Giona. "Chronic Thrombocytopenia in Children: What Could It Hide?" Blood 136, Supplement 1 (November 5, 2020): 33–34. http://dx.doi.org/10.1182/blood-2020-138651.
Повний текст джерелаLavenu-Bombled, Cécile, Corinne Guitton, Arnaud Dupuis, Marie-Jeanne Baas, Céline Desconclois, Marie Dreyfus, Renhao Li, et al. "A novel platelet-type von Willebrand disease mutation (GP1BA p.Met255Ile) associated with type 2B “Malmö/New York” von Willebrand disease." Thrombosis and Haemostasis 116, no. 12 (November 2016): 1070–78. http://dx.doi.org/10.1160/th16-06-0438.
Повний текст джерелаTrizuljak, Jakub, Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Karol Pál, Kamila Réblová, Olga Stehlíková, et al. "A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome." Platelets 29, no. 8 (October 17, 2018): 827–33. http://dx.doi.org/10.1080/09537104.2018.1529300.
Повний текст джерелаAli, Shahnaz, Shrimati Shetty, and Kanjaksha Ghosh. "A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia." Blood Coagulation & Fibrinolysis 28, no. 1 (January 2017): 94–95. http://dx.doi.org/10.1097/mbc.0000000000000530.
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 джерелаMonteiro, Manuel, Luis Almeida, Mariana Morais, and Luis Dias. "Bernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder." BMJ Case Reports 14, no. 8 (August 2021): e243518. http://dx.doi.org/10.1136/bcr-2021-243518.
Повний текст джерелаKanaji, Taisuke, Susan Russell, Janet Cunningham, Kenji Izuhara, Joan E. B. Fox та Jerry Ware. "Megakaryocyte proliferation and ploidy regulated by the cytoplasmic tail of glycoprotein Ibα". Blood 104, № 10 (15 листопада 2004): 3161–68. http://dx.doi.org/10.1182/blood-2004-03-0893.
Повний текст джерелаStavnichuk, Mariya, and Svetlana V. Komarova. "Megakaryocyte-bone cell interactions: lessons from mouse models of experimental myelofibrosis and related disorders." American Journal of Physiology-Cell Physiology 322, no. 2 (February 1, 2022): C177—C184. http://dx.doi.org/10.1152/ajpcell.00328.2021.
Повний текст джерелаShlebak, Abdul, Anthony Poles, Richard Manning, Shaikha Almuhareb, Josu De La Funte, Mike Mitchell, and Geoff Lucas. "A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome." Acta Haematologica 134, no. 3 (2015): 193–98. http://dx.doi.org/10.1159/000381328.
Повний текст джерелаV. Anisimova, A., A. S. Gunchenko, A. Yu. Ikonnikova, S. S. Galkin, M. A. Avdonina, T. V. Nasedkina, and Z. Abdukhalikova. "Study of the Role of Polymorphism of ACE, GP1BA, PDE4D Genes and Clinical Features in the Development of Cerebrovascular Diseases." International Journal of Sciences 8, no. 03 (2019): 97–101. http://dx.doi.org/10.18483/ijsci.1975.
Повний текст джерелаLi, Xingchuan, Song Wang, Jiusi Wu, Haidong Wang, Jing Wang, Xiangyu Dong, and Ni Zhang. "A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene." Acta Haematologica 143, no. 1 (July 12, 2019): 60–64. http://dx.doi.org/10.1159/000500797.
Повний текст джерелаSkvortsova, V. I., E. A. Koltsova, Ekaterina Igorevna Kimelfeld, S. A. Limborskaya, P. A. Slominsky, and T. V. Tupitsyna. "Analysis of the contribution of -5t/c polymorphism in the GP1BA gene to the development of ischemic stroke in young patients." Neurology, neuropsychiatry, Psychosomatics, no. 4 (December 15, 2012): 39. http://dx.doi.org/10.14412/2074-2711-2012-419.
Повний текст джерелаShorikov, E. "C0376: Platelets Aggregation in Relation to Polymorphism of GP1BA-Trombocyte Receptor Gene at Patients with Arterial Hypertension and Diabetes Mellitus Type 2." Thrombosis Research 133 (May 2014): S82. http://dx.doi.org/10.1016/s0049-3848(14)50266-6.
Повний текст джерелаGindele, Réka, Adrienne Kerényi, Judit Kállai, György Pfliegler, Ágota Schlammadinger, István Szegedi, Tamás Major, et al. "Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing." Life 11, no. 3 (March 5, 2021): 202. http://dx.doi.org/10.3390/life11030202.
Повний текст джерелаKunicki, Thomas J., Augusto B. Federici, Daniel R. Salomon, James A. Koziol, Steven R. Head, Tony S. Mondala, Jeffrey D. Chismar, Luciano Baronciani, Maria Teresa Canciani, and Ian R. Peake. "An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees." Blood 104, no. 8 (October 15, 2004): 2359–67. http://dx.doi.org/10.1182/blood-2004-01-0349.
Повний текст джерелаEnayat, Said, Shirin Ravanbod, Maryam Rassoulzadegan, Mohammad Jazebi, Shirin Tarighat, Fereydoun Ala, Jonas Emsley, and Maha Othman. "A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease." Thrombosis and Haemostasis 108, no. 11 (2012): 946–54. http://dx.doi.org/10.1160/th12-04-0189.
Повний текст джерелаWandall, Hans H., Anne Louise Sørensen, Sunita Patel, Jennifer Richardson, Joseph E. Italiano, Victoria Rumjantseva, Eric P. Bennett, Henrik Clausen, Thomas P. Stossel, and John H. Hartwig. "Megakaryocytes Package and Deliver Golgi-Associated Glycosyltransferases into Platelets and to Platelet Surfaces Using Dense Granules." Blood 106, no. 11 (November 16, 2005): 1643. http://dx.doi.org/10.1182/blood.v106.11.1643.1643.
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 джерелаTupitsyna, T. V., E. A. Bondarenko, S. A. Kravchenko, P. F. Tatarskyy, I. M. Shetova, N. A. Shamalov, S. M. Kuznetsova, et al. "Comparative analysis of associations between polymorphic variants of the F2, F5, GP1BA, and ACE genes and the risk of developing stroke in Russian and Ukrainian populations." Molecular Genetics, Microbiology and Virology 28, no. 1 (January 2013): 8–14. http://dx.doi.org/10.3103/s0891416813010072.
Повний текст джерелаFrontroth, Juan Pablo, Mirta Hepner, Gabriela Sciuccati, Aurora Feliú Torres, Graciela Pieroni, and Mariana Bonduel. "Prospective study of low-dose ristocetin-induced platelet aggregation to identify type 2B von Willebrand disease (VWD) and platelet-type VWD in children." Thrombosis and Haemostasis 104, no. 12 (2010): 1158–65. http://dx.doi.org/10.1160/th10-04-0213.
Повний текст джерелаLi, Yang, Guoqing Li, Fu Wang, Xiaoshan Wu, Zhifang Wu, Jinsong Wang, Chunmei Zhang, Junqi He, Hao Wang, and Songlin Wang. "Integrated Analysis of LncRNA-mRNA Coexpression in the Extracellular Matrix of Developing Deciduous Teeth in Miniature Pigs." BioMed Research International 2019 (January 23, 2019): 1–9. http://dx.doi.org/10.1155/2019/6159490.
Повний текст джерелаВеремеева, В. В., Н. А. Бухвальд, Э. В. Дашкевич, and Н. Г. Седляр. "Development of the Integrated Algorithm for Examining Women with a Risk of Hereditary Thrombophilia in Planning Pregnancy." Гематология. Трансфузиология. Восточная Европа, no. 2 (July 6, 2020): 208–16. http://dx.doi.org/10.34883/pi.2020.6.2.006.
Повний текст джерелаVan der Reijden, Bert A., Davide Monteferrario, Nikhita Bolar, Anna Marneth, Konnie Hebeda, Saskia Bergevoet, Hans Veenstra, et al. "A Dominant-Negative GFI1B Mutation in Gray Platelet Syndrome." Blood 122, no. 21 (November 15, 2013): LBA—3—LBA—3. http://dx.doi.org/10.1182/blood.v122.21.lba-3.lba-3.
Повний текст джерелаSemashchenko, K. S., T. S. Mongush, A. A. Kosinova, T. N. Subbotina, and Y. I. Grinshtein. "Study the Association of Nucleotide Polymorphisms in Platelet Receptor and Cytochrome P450 Genes with the Development of Resistance to Antiplatelet Drugs in Patients with Coronary Artery Disease." Rational Pharmacotherapy in Cardiology 18, no. 3 (July 6, 2022): 289–96. http://dx.doi.org/10.20996/1819-6446-2022-06-15.
Повний текст джерелаKunicki, Thomas J., Daniel Diaz, Shirley A. Williams, Richard W. Farndale та Diane J. Nugent. "The Integrin α2 Dimorphism E534K Modulates Platelet Binding to Decorin but Not Collagen I",. Blood 118, № 21 (18 листопада 2011): 3256. http://dx.doi.org/10.1182/blood.v118.21.3256.3256.
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.
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