Статті в журналах з теми "NBEAL2"
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Noetzli, Leila, Natalie Smith, Gary Brodsky, and Jorge Di Paola. "Expression Patterns Of NBEAL2 In Human Tissues and a Megakaryocytic Cell Line." Blood 122, no. 21 (November 15, 2013): 1075. http://dx.doi.org/10.1182/blood.v122.21.1075.1075.
Lo, Richard W., Ling Li, Fred G. Pluthero, Richard Leung, Koji Eto та Walter H. A. Kahr. "The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis". Blood 136, № 6 (6 серпня 2020): 715–25. http://dx.doi.org/10.1182/blood.2019004276.
Kahr, 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, no. 19 (November 7, 2013): 3349–58. http://dx.doi.org/10.1182/blood-2013-04-499491.
Darling, Thayer K., Michael P. Schenk, Chengjing C. Zhou, Franklin M. Maloba, Patrice N. Mimche, Jonathan M. Gibbins, Shawn M. Jobe та Tracey J. Lamb. "Platelet α-granules contribute to organ-specific pathologies in a mouse model of severe malaria". Blood Advances 4, № 1 (31 грудня 2019): 1–8. http://dx.doi.org/10.1182/bloodadvances.2019000773.
Mayer, 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, no. 9 (March 1, 2018): 1000–1011. http://dx.doi.org/10.1182/blood-2017-08-800359.
Aarts, 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, no. 2 (January 25, 2021): 549–64. http://dx.doi.org/10.1182/bloodadvances.2020002442.
Tang, Yuling, Hongping Wu, Caiyun Huo, Shumei Zou, Yanxin Hu, and Hanchun Yang. "Transcriptomic Profiling of Mouse Mast Cells upon Pathogenic Avian H5N1 and Pandemic H1N1 Influenza a Virus Infection." Viruses 14, no. 2 (January 29, 2022): 292. http://dx.doi.org/10.3390/v14020292.
Di Paola, Jorge. "Novel Congenital Platelet Disorders." Blood 128, no. 22 (December 2, 2016): SCI—39—SCI—39. http://dx.doi.org/10.1182/blood.v128.22.sci-39.sci-39.
Kim, Dongjune A., Katrina J. Ashworth, Jorge Di Paola та David N. Ku. "Platelet α-granules are required for occlusive high-shear-rate thrombosis". Blood Advances 4, № 14 (22 липня 2020): 3258–67. http://dx.doi.org/10.1182/bloodadvances.2020002117.
Guerrero, Jose A., Cavan Bennett, Louise van der Weyden, Harriet McKinney, Melody Chin, Paquita Nurden, Zoe McIntyre та ін. "Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice". Blood 124, № 24 (4 грудня 2014): 3624–35. http://dx.doi.org/10.1182/blood-2014-04-566760.
Sims, 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, no. 17 (October 22, 2020): 1956–67. http://dx.doi.org/10.1182/blood.2019004776.
Shinde, 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, no. 8 (March 17, 2021): 658–71. http://dx.doi.org/10.1093/hmg/ddab075.
Reed, Jenna, Margot Deckers, Philippe Van den Steen, Aaron Petrey, Brian D. Evavold, and Tracey Lamb. "Deciphering the role of platelet alpha granules in alveolar-capillary breakdown in severe malaria." Journal of Immunology 210, no. 1_Supplement (May 1, 2023): 241.13. http://dx.doi.org/10.4049/jimmunol.210.supp.241.13.
Bottega, 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, no. 2 (January 17, 2017): E20—E22. http://dx.doi.org/10.1002/ajh.24610.
Pluthero, Fred G., Jorge Di Paola, Manuel D. Carcao, and Walter H. A. Kahr. "NBEAL2 mutations and bleeding in patients with gray platelet syndrome." Platelets 29, no. 6 (June 5, 2018): 632–35. http://dx.doi.org/10.1080/09537104.2018.1478405.
Nand, Sucha, Manuel O. Diaz, David E. Marinier, Mark A. Walshauser, Amy B. Rosenfeld, Laura C. Michaelis, Patrick J. Stiff, and Xiaowu Gai. "Germ-Line and Somatic Mutations in Familial Myeloproliferative Neoplasms (MPNs). a Pilot Study." Blood 124, no. 21 (December 6, 2014): 3214. http://dx.doi.org/10.1182/blood.v124.21.3214.3214.
Deppermann, 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, no. 8 (July 1, 2013): 3331–42. http://dx.doi.org/10.1172/jci69210.
Kahr, 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, no. 8 (July 17, 2011): 738–40. http://dx.doi.org/10.1038/ng.884.
Wijgaerts, Anouck, Christine Wittevrongel, Chantal Thys, Timothy Devos, Kathelijne Peerlinck, Marloes R. Tijssen, Chris Van Geet, and Kathleen Freson. "The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer." Haematologica 102, no. 4 (January 12, 2017): 695–706. http://dx.doi.org/10.3324/haematol.2016.152777.
Sowerby, 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, no. 9 (August 7, 2017): 3521–26. http://dx.doi.org/10.1172/jci91684.
Tomberg, Kärt, Rami Khoriaty, Randal J. Westrick, Heather E. Fairfield, Laura G. Reinholdt, Gary L. Brodsky, Pavel Davizon-Castillo, David Ginsburg, and Jorge Di Paola. "Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice." PLOS ONE 11, no. 3 (March 7, 2016): e0150852. http://dx.doi.org/10.1371/journal.pone.0150852.
Albers, 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, no. 8 (July 17, 2011): 735–37. http://dx.doi.org/10.1038/ng.885.
Bottega, 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, no. 6 (October 25, 2012): 868–74. http://dx.doi.org/10.3324/haematol.2012.075861.
Barg, A., E. Avishai, R. Dardik, S. Levy-Mendelovich, O. Cohen, B. Roth Jelinek, O. Barel, T. Livnat, and 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 (October 2023): 101518. http://dx.doi.org/10.1016/j.rpth.2023.101518.
Cao, Lijuan, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, and Changgeng Ruan. "A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome." Platelets 29, no. 3 (May 15, 2017): 288–91. http://dx.doi.org/10.1080/09537104.2017.1306041.
Gunay-Aygun, Meral, Tzipora C. Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat та ін. "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nature Genetics 43, № 8 (17 липня 2011): 732–34. http://dx.doi.org/10.1038/ng.883.
Riley, Roger, Asad Khan, Shella Pai, Laura Warmke, Marcus Winkler, and William Gunning. "A Case of Chronic Thrombocytopenia in a 17-Year-Old Female." Laboratory Medicine 50, no. 4 (June 22, 2019): 406–20. http://dx.doi.org/10.1093/labmed/lmz013.
Coenen, D., and 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 (October 2023): 101685. http://dx.doi.org/10.1016/j.rpth.2023.101685.
Lo, Richard W., Ling Li, Richard Leung, Fred G. Pluthero та 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, № 10 (жовтень 2018): 2435–47. http://dx.doi.org/10.1161/atvbaha.118.311270.
Louzil, 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.
Urban, Denisa, Ling Li, Hilary Christensen, Fred G. Pluthero, Shao Zun Chen, Michael Puhacz, Parvesh M. Garg та ін. "The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis". Blood 120, № 25 (13 грудня 2012): 5032–40. http://dx.doi.org/10.1182/blood-2012-05-431205.
Mohamed, 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.
Jia, Siyuan, Yunyan He, Meirong Lu, Ning Liao, Yonghong Lei, Nikuze Lauriane, Kairong Liang, and 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 (June 2019): 143–47. http://dx.doi.org/10.1016/j.gene.2019.03.067.
Collins, 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 (October 2023): 101493. http://dx.doi.org/10.1016/j.rpth.2023.101493.
Kahr, Walter H. "Molecular Triggers of Granule Formation in Megakaryocytes and Platelets." Blood 120, no. 21 (November 16, 2012): SCI—34—SCI—34. http://dx.doi.org/10.1182/blood.v120.21.sci-34.sci-34.
Shibata, Yusuke, Kazuhito Kawakita, and 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, no. 9 (September 2010): 1130–42. http://dx.doi.org/10.1094/mpmi-23-9-1130.
Luo, Fangxiu, Jialu Zhao, Yubao Chen, Zhenping Peng, Ran An, Yeling Lu, and Jiaming Li. "Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome." Global Medical Genetics 11, no. 02 (June 2024): 187–95. http://dx.doi.org/10.1055/s-0044-1787752.
Naik, Gurudatta, Dongquan Chen, Michael Crowley, David Crossman, Katherine C. Sexton, William E. Grizzle, Amitkumar N. Mehta, and Guru Sonpavde. "Whole-exome sequencing (WES) of penile squamous cell carcinoma (PSCC) to identify multiple recurrent mutations." Journal of Clinical Oncology 34, no. 2_suppl (January 10, 2016): 484. http://dx.doi.org/10.1200/jco.2016.34.2_suppl.484.
Abraham, Shirley M., Dong Chen, Karen Simon, Thomas Markello, and William A. Gahl. "GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication." Blood 128, no. 22 (December 2, 2016): 3727. http://dx.doi.org/10.1182/blood.v128.22.3727.3727.
Vincent, 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, no. 21 (November 16, 2012): 2502. http://dx.doi.org/10.1182/blood.v120.21.2502.2502.
Rivera, 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.
Kapoor, Urvi, Shipra Kaicker, Jenny Shek, Robyn Gartrell, and Monica Bhatia. "Two Hit Theory for the Pathogenesis of Type 3 Congenital Amegakaryocytic Thrombocytopenia." Blood 142, Supplement 1 (November 28, 2023): 5454. http://dx.doi.org/10.1182/blood-2023-190490.
Bastida, 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.
Ochi, 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 (November 29, 2018): 1725. http://dx.doi.org/10.1182/blood-2018-99-114512.
Lim, 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, no. 22 (December 2, 2016): 4282. http://dx.doi.org/10.1182/blood.v128.22.4282.4282.
Jingyao, Ma, Zhenping Chen, Huiqing LIU, Jialu Zhang, Hao GU, and Runhui Wu. "Application of High-Throughput Sequencing in the Diagnosis of Inherited Immune-Thrombocytopenia from Children Chronic/Refractory ITP." Blood 134, Supplement_1 (November 13, 2019): 86. http://dx.doi.org/10.1182/blood-2019-126771.
Bloom, 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, no. 24 (December 17, 2020): 6393–422. http://dx.doi.org/10.5194/bg-17-6393-2020.
Singh, Ram Sewak, Demissie Jobir Gelmecha, Satyasis Mishra, Gemechu Dengia, and 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, no. 3 (September 2022): 273–96. http://dx.doi.org/10.7546/ijba.2022.26.3.000786.
Chen-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 (November 29, 2018): 4339. http://dx.doi.org/10.1182/blood-2018-99-116045.
Zhang, Biao, Chao Song, Xuchu Jiang, and Ying Li. "Electricity price forecast based on the STL-TCN-NBEATS model." Heliyon 9, no. 1 (January 2023): e13029. http://dx.doi.org/10.1016/j.heliyon.2023.e13029.