Articoli di riviste sul 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. 21 (15 novembre 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 e Walter H. A. Kahr. "The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis". Blood 136, n. 6 (6 agosto 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, n. 19 (7 novembre 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 e Tracey J. Lamb. "Platelet α-granules contribute to organ-specific pathologies in a mouse model of severe malaria". Blood Advances 4, n. 1 (31 dicembre 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, n. 9 (1 marzo 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, n. 2 (25 gennaio 2021): 549–64. http://dx.doi.org/10.1182/bloodadvances.2020002442.
Tang, 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. 2 (29 gennaio 2022): 292. http://dx.doi.org/10.3390/v14020292.
Di Paola, Jorge. "Novel Congenital Platelet Disorders". Blood 128, n. 22 (2 dicembre 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 e David N. Ku. "Platelet α-granules are required for occlusive high-shear-rate thrombosis". Blood Advances 4, n. 14 (22 luglio 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 et al. "Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice". Blood 124, n. 24 (4 dicembre 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, n. 17 (22 ottobre 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, n. 8 (17 marzo 2021): 658–71. http://dx.doi.org/10.1093/hmg/ddab075.
Reed, 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. 1_Supplement (1 maggio 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, n. 2 (17 gennaio 2017): E20—E22. http://dx.doi.org/10.1002/ajh.24610.
Pluthero, 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. 6 (5 giugno 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 e Xiaowu Gai. "Germ-Line and Somatic Mutations in Familial Myeloproliferative Neoplasms (MPNs). a Pilot Study". Blood 124, n. 21 (6 dicembre 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, n. 8 (1 luglio 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, n. 8 (17 luglio 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 e Kathleen Freson. "The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer". Haematologica 102, n. 4 (12 gennaio 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, n. 9 (7 agosto 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 e Jorge Di Paola. "Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice". PLOS ONE 11, n. 3 (7 marzo 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, n. 8 (17 luglio 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, n. 6 (25 ottobre 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 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 (ottobre 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 e Changgeng Ruan. "A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome". Platelets 29, n. 3 (15 maggio 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 et al. "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nature Genetics 43, n. 8 (17 luglio 2011): 732–34. http://dx.doi.org/10.1038/ng.883.
Riley, 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. 4 (22 giugno 2019): 406–20. http://dx.doi.org/10.1093/labmed/lmz013.
Coenen, 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 (ottobre 2023): 101685. http://dx.doi.org/10.1016/j.rpth.2023.101685.
Lo, 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. 10 (ottobre 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, n. 22 (19 novembre 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 et al. "The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis". Blood 120, n. 25 (13 dicembre 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 e Fiorina Giona. "Chronic Thrombocytopenia in Children: What Could It Hide?" Blood 136, Supplement 1 (5 novembre 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 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 (giugno 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 (ottobre 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, n. 21 (16 novembre 2012): SCI—34—SCI—34. http://dx.doi.org/10.1182/blood.v120.21.sci-34.sci-34.
Shibata, 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. 9 (settembre 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 e Jiaming Li. "Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome". Global Medical Genetics 11, n. 02 (giugno 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 e Guru Sonpavde. "Whole-exome sequencing (WES) of penile squamous cell carcinoma (PSCC) to identify multiple recurrent mutations." Journal of Clinical Oncology 34, n. 2_suppl (10 gennaio 2016): 484. http://dx.doi.org/10.1200/jco.2016.34.2_suppl.484.
Abraham, 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. 22 (2 dicembre 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, n. 21 (16 novembre 2012): 2502. http://dx.doi.org/10.1182/blood.v120.21.2502.2502.
Rivera, 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 novembre 2018): 1158. http://dx.doi.org/10.1182/blood-2018-99-117995.
Kapoor, 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 novembre 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, n. 21 (6 dicembre 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 (29 novembre 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, n. 22 (2 dicembre 2016): 4282. http://dx.doi.org/10.1182/blood.v128.22.4282.4282.
Jingyao, 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 novembre 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, n. 24 (17 dicembre 2020): 6393–422. http://dx.doi.org/10.5194/bg-17-6393-2020.
Singh, 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. 3 (settembre 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 (29 novembre 2018): 4339. http://dx.doi.org/10.1182/blood-2018-99-116045.
Zhang, Biao, Chao Song, Xuchu Jiang e Ying Li. "Electricity price forecast based on the STL-TCN-NBEATS model". Heliyon 9, n. 1 (gennaio 2023): e13029. http://dx.doi.org/10.1016/j.heliyon.2023.e13029.