Artigos de revistas sobre o tema "NBEAL2"
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Noetzli, Leila, Natalie Smith, Gary Brodsky e Jorge Di Paola. "Expression Patterns Of NBEAL2 In Human Tissues and a Megakaryocytic Cell Line". Blood 122, n.º 21 (15 de novembro de 2013): 1075. http://dx.doi.org/10.1182/blood.v122.21.1075.1075.
Texto completo da fonteLo, Richard W., Ling Li, Fred G. Pluthero, Richard Leung, Koji Eto e Walter H. A. Kahr. "The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis". Blood 136, n.º 6 (6 de agosto de 2020): 715–25. http://dx.doi.org/10.1182/blood.2019004276.
Texto completo da fonteKahr, Walter H. A., Richard W. Lo, Ling Li, Fred G. Pluthero, Hilary Christensen, Ran Ni, Nima Vaezzadeh et al. "Abnormal megakaryocyte development and platelet function in Nbeal2−/− mice". Blood 122, n.º 19 (7 de novembro de 2013): 3349–58. http://dx.doi.org/10.1182/blood-2013-04-499491.
Texto completo da fonteDarling, Thayer K., Michael P. Schenk, Chengjing C. Zhou, Franklin M. Maloba, Patrice N. Mimche, Jonathan M. Gibbins, Shawn M. Jobe e Tracey J. Lamb. "Platelet α-granules contribute to organ-specific pathologies in a mouse model of severe malaria". Blood Advances 4, n.º 1 (31 de dezembro de 2019): 1–8. http://dx.doi.org/10.1182/bloodadvances.2019000773.
Texto completo da fonteMayer, Louisa, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst et al. "Nbeal2 interacts with Dock7, Sec16a, and Vac14". Blood 131, n.º 9 (1 de março de 2018): 1000–1011. http://dx.doi.org/10.1182/blood-2017-08-800359.
Texto completo da fonteAarts, Cathelijn E. M., Kate Downes, Arie J. Hoogendijk, Evelien G. G. Sprenkeler, Roel P. Gazendam, Rémi Favier, Marie Favier et al. "Neutrophil specific granule and NETosis defects in gray platelet syndrome". Blood Advances 5, n.º 2 (25 de janeiro de 2021): 549–64. http://dx.doi.org/10.1182/bloodadvances.2020002442.
Texto completo da fonteTang, Yuling, Hongping Wu, Caiyun Huo, Shumei Zou, Yanxin Hu e Hanchun Yang. "Transcriptomic Profiling of Mouse Mast Cells upon Pathogenic Avian H5N1 and Pandemic H1N1 Influenza a Virus Infection". Viruses 14, n.º 2 (29 de janeiro de 2022): 292. http://dx.doi.org/10.3390/v14020292.
Texto completo da fonteDi Paola, Jorge. "Novel Congenital Platelet Disorders". Blood 128, n.º 22 (2 de dezembro de 2016): SCI—39—SCI—39. http://dx.doi.org/10.1182/blood.v128.22.sci-39.sci-39.
Texto completo da fonteKim, Dongjune A., Katrina J. Ashworth, Jorge Di Paola e David N. Ku. "Platelet α-granules are required for occlusive high-shear-rate thrombosis". Blood Advances 4, n.º 14 (22 de julho de 2020): 3258–67. http://dx.doi.org/10.1182/bloodadvances.2020002117.
Texto completo da fonteGuerrero, Jose A., Cavan Bennett, Louise van der Weyden, Harriet McKinney, Melody Chin, Paquita Nurden, Zoe McIntyre et al. "Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice". Blood 124, n.º 24 (4 de dezembro de 2014): 3624–35. http://dx.doi.org/10.1182/blood-2014-04-566760.
Texto completo da fonteSims, Matthew C., Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres et al. "Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome". Blood 136, n.º 17 (22 de outubro de 2020): 1956–67. http://dx.doi.org/10.1182/blood.2019004776.
Texto completo da fonteShinde, Vishal, Nara Sobreira, Elizabeth S. Wohler, George Maiti, Nan Hu, Giuliana Silvestri, Sonia George et al. "Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus". Human Molecular Genetics 30, n.º 8 (17 de março de 2021): 658–71. http://dx.doi.org/10.1093/hmg/ddab075.
Texto completo da fonteReed, Jenna, Margot Deckers, Philippe Van den Steen, Aaron Petrey, Brian D. Evavold e Tracey Lamb. "Deciphering the role of platelet alpha granules in alveolar-capillary breakdown in severe malaria". Journal of Immunology 210, n.º 1_Supplement (1 de maio de 2023): 241.13. http://dx.doi.org/10.4049/jimmunol.210.supp.241.13.
Texto completo da fonteBottega, Roberta, Elena Nicchia, Caterina Alfano, Ana C. Glembotsky, Annalisa Pastore, Debora Bertaggia-Calderara, Bettina Bisig et al. "Gray platelet syndrome: Novel mutations of the NBEAL2 gene". American Journal of Hematology 92, n.º 2 (17 de janeiro de 2017): E20—E22. http://dx.doi.org/10.1002/ajh.24610.
Texto completo da fontePluthero, Fred G., Jorge Di Paola, Manuel D. Carcao e Walter H. A. Kahr. "NBEAL2 mutations and bleeding in patients with gray platelet syndrome". Platelets 29, n.º 6 (5 de junho de 2018): 632–35. http://dx.doi.org/10.1080/09537104.2018.1478405.
Texto completo da fonteNand, Sucha, Manuel O. Diaz, David E. Marinier, Mark A. Walshauser, Amy B. Rosenfeld, Laura C. Michaelis, Patrick J. Stiff e Xiaowu Gai. "Germ-Line and Somatic Mutations in Familial Myeloproliferative Neoplasms (MPNs). a Pilot Study". Blood 124, n.º 21 (6 de dezembro de 2014): 3214. http://dx.doi.org/10.1182/blood.v124.21.3214.3214.
Texto completo da fonteDeppermann, Carsten, Deya Cherpokova, Paquita Nurden, Jan-Niklas Schulz, Ina Thielmann, Peter Kraft, Timo Vögtle et al. "Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice". Journal of Clinical Investigation 123, n.º 8 (1 de julho de 2013): 3331–42. http://dx.doi.org/10.1172/jci69210.
Texto completo da fonteKahr, Walter HA, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W. Rowley, Fred G. Pluthero et al. "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome". Nature Genetics 43, n.º 8 (17 de julho de 2011): 738–40. http://dx.doi.org/10.1038/ng.884.
Texto completo da fonteWijgaerts, Anouck, Christine Wittevrongel, Chantal Thys, Timothy Devos, Kathelijne Peerlinck, Marloes R. Tijssen, Chris Van Geet e Kathleen Freson. "The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer". Haematologica 102, n.º 4 (12 de janeiro de 2017): 695–706. http://dx.doi.org/10.3324/haematol.2016.152777.
Texto completo da fonteSowerby, John M., David C. Thomas, Simon Clare, Marion Espéli, Jose A. Guerrero, Kim Hoenderdos, Katherine Harcourt et al. "NBEAL2 is required for neutrophil and NK cell function and pathogen defense". Journal of Clinical Investigation 127, n.º 9 (7 de agosto de 2017): 3521–26. http://dx.doi.org/10.1172/jci91684.
Texto completo da fonteTomberg, Kärt, Rami Khoriaty, Randal J. Westrick, Heather E. Fairfield, Laura G. Reinholdt, Gary L. Brodsky, Pavel Davizon-Castillo, David Ginsburg e Jorge Di Paola. "Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice". PLOS ONE 11, n.º 3 (7 de março de 2016): e0150852. http://dx.doi.org/10.1371/journal.pone.0150852.
Texto completo da fonteAlbers, Cornelis A., Ana Cvejic, Rémi Favier, Evelien E. Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan et al. "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics 43, n.º 8 (17 de julho de 2011): 735–37. http://dx.doi.org/10.1038/ng.885.
Texto completo da fonteBottega, R., A. Pecci, E. De Candia, N. Pujol-Moix, P. G. Heller, P. Noris, D. De Rocco et al. "Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and -granule deficiency". Haematologica 98, n.º 6 (25 de outubro de 2012): 868–74. http://dx.doi.org/10.3324/haematol.2012.075861.
Texto completo da fonteBarg, A., E. Avishai, R. Dardik, S. Levy-Mendelovich, O. Cohen, B. Roth Jelinek, O. Barel, T. Livnat e G. Kenet. "PB1390 Gray Platelet Syndrome- Novel NBEAL2 Pathogenic Variants and Hemostasis Evaluation by Global Coagulation Assays". Research and Practice in Thrombosis and Haemostasis 7 (outubro de 2023): 101518. http://dx.doi.org/10.1016/j.rpth.2023.101518.
Texto completo da fonteCao, Lijuan, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia e Changgeng Ruan. "A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome". Platelets 29, n.º 3 (15 de maio de 2017): 288–91. http://dx.doi.org/10.1080/09537104.2017.1306041.
Texto completo da fonteGunay-Aygun, Meral, Tzipora C. Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat et al. "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nature Genetics 43, n.º 8 (17 de julho de 2011): 732–34. http://dx.doi.org/10.1038/ng.883.
Texto completo da fonteRiley, Roger, Asad Khan, Shella Pai, Laura Warmke, Marcus Winkler e William Gunning. "A Case of Chronic Thrombocytopenia in a 17-Year-Old Female". Laboratory Medicine 50, n.º 4 (22 de junho de 2019): 406–20. http://dx.doi.org/10.1093/labmed/lmz013.
Texto completo da fonteCoenen, D., e S. Whiteheart. "PB1402 NBEAL2 and the Intragranular Proteoglycan, Serglycin, Both Contribute to the Initiation and Progression of Aortic Aneurysms". Research and Practice in Thrombosis and Haemostasis 7 (outubro de 2023): 101685. http://dx.doi.org/10.1016/j.rpth.2023.101685.
Texto completo da fonteLo, Richard W., Ling Li, Richard Leung, Fred G. Pluthero e Walter H. A. Kahr. "NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes". Arteriosclerosis, Thrombosis, and Vascular Biology 38, n.º 10 (outubro de 2018): 2435–47. http://dx.doi.org/10.1161/atvbaha.118.311270.
Texto completo da fonteLouzil, 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, n.º 22 (19 de novembro de 2022): 14386. http://dx.doi.org/10.3390/ijms232214386.
Texto completo da fonteUrban, Denisa, Ling Li, Hilary Christensen, Fred G. Pluthero, Shao Zun Chen, Michael Puhacz, Parvesh M. Garg et al. "The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis". Blood 120, n.º 25 (13 de dezembro de 2012): 5032–40. http://dx.doi.org/10.1182/blood-2012-05-431205.
Texto completo da fonteMohamed, Sara, Martina Di Palma, Michela Faleschini, Daniela De Benedittis, Maria Luisa Moleti, Luisa Cardarelli, Anna Maria Testi, Giovanna Palumbo, Anna Savoia e Fiorina Giona. "Chronic Thrombocytopenia in Children: What Could It Hide?" Blood 136, Supplement 1 (5 de novembro de 2020): 33–34. http://dx.doi.org/10.1182/blood-2020-138651.
Texto completo da fonteJia, Siyuan, Yunyan He, Meirong Lu, Ning Liao, Yonghong Lei, Nikuze Lauriane, Kairong Liang e Hongying Wei. "Identification of novel pathogenic F13A1 mutation and novel NBEAL2 gene missense mutation in a pedigree with hereditary congenital factor XIII deficiency". Gene 702 (junho de 2019): 143–47. http://dx.doi.org/10.1016/j.gene.2019.03.067.
Texto completo da fonteCollins, J., H. Foster, L. Mayer, A. Crosby, A. Evans, W. Lau, S. Mason et al. "PB0355 Knock-in of Homozygous NBEAL2 Variants to Model Gray Platelet Syndrome in Megakaryocytes Derived from CRISPR-Cas9-edited Pluripotent Stem Cells". Research and Practice in Thrombosis and Haemostasis 7 (outubro de 2023): 101493. http://dx.doi.org/10.1016/j.rpth.2023.101493.
Texto completo da fonteKahr, Walter H. "Molecular Triggers of Granule Formation in Megakaryocytes and Platelets". Blood 120, n.º 21 (16 de novembro de 2012): SCI—34—SCI—34. http://dx.doi.org/10.1182/blood.v120.21.sci-34.sci-34.
Texto completo da fonteShibata, Yusuke, Kazuhito Kawakita e Daigo Takemoto. "Age-Related Resistance of Nicotiana benthamiana Against Hemibiotrophic Pathogen Phytophthora infestans Requires Both Ethylene- and Salicylic Acid–Mediated Signaling Pathways". Molecular Plant-Microbe Interactions® 23, n.º 9 (setembro de 2010): 1130–42. http://dx.doi.org/10.1094/mpmi-23-9-1130.
Texto completo da fonteLuo, Fangxiu, Jialu Zhao, Yubao Chen, Zhenping Peng, Ran An, Yeling Lu e Jiaming Li. "Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome". Global Medical Genetics 11, n.º 02 (junho de 2024): 187–95. http://dx.doi.org/10.1055/s-0044-1787752.
Texto completo da fonteNaik, Gurudatta, Dongquan Chen, Michael Crowley, David Crossman, Katherine C. Sexton, William E. Grizzle, Amitkumar N. Mehta e Guru Sonpavde. "Whole-exome sequencing (WES) of penile squamous cell carcinoma (PSCC) to identify multiple recurrent mutations." Journal of Clinical Oncology 34, n.º 2_suppl (10 de janeiro de 2016): 484. http://dx.doi.org/10.1200/jco.2016.34.2_suppl.484.
Texto completo da fonteAbraham, Shirley M., Dong Chen, Karen Simon, Thomas Markello e William A. Gahl. "GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication". Blood 128, n.º 22 (2 de dezembro de 2016): 3727. http://dx.doi.org/10.1182/blood.v128.22.3727.3727.
Texto completo da fonteVincent, Benjamin G., Darshan Singh, Michael Wu, Sally A. Hunsucker, Gheath Alatrash, Kathryn Ruisaard, Pariya Sukhumalchandra et al. "RNA-Seq Expression Profiling of AML Stem Cells Reveals Differential Expression of Lineage Differentiation Markers and Novel Splice Variants." Blood 120, n.º 21 (16 de novembro de 2012): 2502. http://dx.doi.org/10.1182/blood.v120.21.2502.2502.
Texto completo da fonteRivera, Candido E., Prakash Vishnu, Gretchen Schaef Johns, Rajiv K. Pruthi e 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 (29 de novembro de 2018): 1158. http://dx.doi.org/10.1182/blood-2018-99-117995.
Texto completo da fonteKapoor, Urvi, Shipra Kaicker, Jenny Shek, Robyn Gartrell e Monica Bhatia. "Two Hit Theory for the Pathogenesis of Type 3 Congenital Amegakaryocytic Thrombocytopenia". Blood 142, Supplement 1 (28 de novembro de 2023): 5454. http://dx.doi.org/10.1182/blood-2023-190490.
Texto completo da fonteBastida, 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, n.º 21 (6 de dezembro de 2014): 4210. http://dx.doi.org/10.1182/blood.v124.21.4210.4210.
Texto completo da fonteOchi, Yotaro, Kenichi Yoshida, Ying-Jung Huang, Ming-Chung Kuo, Yusuke Shiozawa, Yasuhito Nannya, Yuichi Shiraishi et al. "Molecular Profiling of Blastic Transformation in Chronic Myeloid Leukemia". Blood 132, Supplement 1 (29 de novembro de 2018): 1725. http://dx.doi.org/10.1182/blood-2018-99-114512.
Texto completo da fonteLim, Ken-Hong, Yu-Cheng Chang, Yi-Hao Chiang, Huan-Chau Lin, Chiao-Yi Chang, Ching-Sung Lin, Ling Huang et al. "Overexpression of Calr Mutants Perturbs Developmental Hematopoiesis in Zebrafish Embryos". Blood 128, n.º 22 (2 de dezembro de 2016): 4282. http://dx.doi.org/10.1182/blood.v128.22.4282.4282.
Texto completo da fonteJingyao, Ma, Zhenping Chen, Huiqing LIU, Jialu Zhang, Hao GU e Runhui Wu. "Application of High-Throughput Sequencing in the Diagnosis of Inherited Immune-Thrombocytopenia from Children Chronic/Refractory ITP". Blood 134, Supplement_1 (13 de novembro de 2019): 86. http://dx.doi.org/10.1182/blood-2019-126771.
Texto completo da fonteBloom, A. Anthony, Kevin W. Bowman, Junjie Liu, Alexandra G. Konings, John R. Worden, Nicholas C. Parazoo, Victoria Meyer et al. "Lagged effects regulate the inter-annual variability of the tropical carbon balance". Biogeosciences 17, n.º 24 (17 de dezembro de 2020): 6393–422. http://dx.doi.org/10.5194/bg-17-6393-2020.
Texto completo da fonteSingh, Ram Sewak, Demissie Jobir Gelmecha, Satyasis Mishra, Gemechu Dengia e Devendra Kumar Sinha. "A Novel Machine Learning Approach for Detection of Coronary Artery Disease Using Reduced Non-linear and Chaos Features". International Journal Bioautomation 26, n.º 3 (setembro de 2022): 273–96. http://dx.doi.org/10.7546/ijba.2022.26.3.000786.
Texto completo da fonteChen-Liang, Tzu Hua, Ana M. Hurtado López, Laura Palomo, Teresa Bernal Del Castillo, Mar Tormo, Maria Lourdes Hermosin, María-José Jimenez et al. "Germline and Acquired Genetic Variants in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction". Blood 132, Supplement 1 (29 de novembro de 2018): 4339. http://dx.doi.org/10.1182/blood-2018-99-116045.
Texto completo da fonteZhang, Biao, Chao Song, Xuchu Jiang e Ying Li. "Electricity price forecast based on the STL-TCN-NBEATS model". Heliyon 9, n.º 1 (janeiro de 2023): e13029. http://dx.doi.org/10.1016/j.heliyon.2023.e13029.
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