Artykuły w czasopismach na temat „NBEAL2”
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Noetzli, Leila, Natalie Smith, Gary Brodsky i Jorge Di Paola. "Expression Patterns Of NBEAL2 In Human Tissues and a Megakaryocytic Cell Line". Blood 122, nr 21 (15.11.2013): 1075. http://dx.doi.org/10.1182/blood.v122.21.1075.1075.
Pełny tekst źródłaLo, Richard W., Ling Li, Fred G. Pluthero, Richard Leung, Koji Eto i Walter H. A. Kahr. "The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis". Blood 136, nr 6 (6.08.2020): 715–25. http://dx.doi.org/10.1182/blood.2019004276.
Pełny tekst źródłaKahr, Walter H. A., Richard W. Lo, Ling Li, Fred G. Pluthero, Hilary Christensen, Ran Ni, Nima Vaezzadeh i in. "Abnormal megakaryocyte development and platelet function in Nbeal2−/− mice". Blood 122, nr 19 (7.11.2013): 3349–58. http://dx.doi.org/10.1182/blood-2013-04-499491.
Pełny tekst źródłaDarling, Thayer K., Michael P. Schenk, Chengjing C. Zhou, Franklin M. Maloba, Patrice N. Mimche, Jonathan M. Gibbins, Shawn M. Jobe i Tracey J. Lamb. "Platelet α-granules contribute to organ-specific pathologies in a mouse model of severe malaria". Blood Advances 4, nr 1 (31.12.2019): 1–8. http://dx.doi.org/10.1182/bloodadvances.2019000773.
Pełny tekst źródłaMayer, Louisa, Maria Jasztal, Mercedes Pardo, Salvadora Aguera de Haro, Janine Collins, Tadbir K. Bariana, Peter A. Smethurst i in. "Nbeal2 interacts with Dock7, Sec16a, and Vac14". Blood 131, nr 9 (1.03.2018): 1000–1011. http://dx.doi.org/10.1182/blood-2017-08-800359.
Pełny tekst źródłaAarts, Cathelijn E. M., Kate Downes, Arie J. Hoogendijk, Evelien G. G. Sprenkeler, Roel P. Gazendam, Rémi Favier, Marie Favier i in. "Neutrophil specific granule and NETosis defects in gray platelet syndrome". Blood Advances 5, nr 2 (25.01.2021): 549–64. http://dx.doi.org/10.1182/bloodadvances.2020002442.
Pełny tekst źródłaTang, Yuling, Hongping Wu, Caiyun Huo, Shumei Zou, Yanxin Hu i Hanchun Yang. "Transcriptomic Profiling of Mouse Mast Cells upon Pathogenic Avian H5N1 and Pandemic H1N1 Influenza a Virus Infection". Viruses 14, nr 2 (29.01.2022): 292. http://dx.doi.org/10.3390/v14020292.
Pełny tekst źródłaDi Paola, Jorge. "Novel Congenital Platelet Disorders". Blood 128, nr 22 (2.12.2016): SCI—39—SCI—39. http://dx.doi.org/10.1182/blood.v128.22.sci-39.sci-39.
Pełny tekst źródłaKim, Dongjune A., Katrina J. Ashworth, Jorge Di Paola i David N. Ku. "Platelet α-granules are required for occlusive high-shear-rate thrombosis". Blood Advances 4, nr 14 (22.07.2020): 3258–67. http://dx.doi.org/10.1182/bloodadvances.2020002117.
Pełny tekst źródłaGuerrero, Jose A., Cavan Bennett, Louise van der Weyden, Harriet McKinney, Melody Chin, Paquita Nurden, Zoe McIntyre i in. "Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice". Blood 124, nr 24 (4.12.2014): 3624–35. http://dx.doi.org/10.1182/blood-2014-04-566760.
Pełny tekst źródłaSims, Matthew C., Louisa Mayer, Janine H. Collins, Tadbir K. Bariana, Karyn Megy, Cecile Lavenu-Bombled, Denis Seyres i in. "Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome". Blood 136, nr 17 (22.10.2020): 1956–67. http://dx.doi.org/10.1182/blood.2019004776.
Pełny tekst źródłaShinde, Vishal, Nara Sobreira, Elizabeth S. Wohler, George Maiti, Nan Hu, Giuliana Silvestri, Sonia George i in. "Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus". Human Molecular Genetics 30, nr 8 (17.03.2021): 658–71. http://dx.doi.org/10.1093/hmg/ddab075.
Pełny tekst źródłaReed, Jenna, Margot Deckers, Philippe Van den Steen, Aaron Petrey, Brian D. Evavold i Tracey Lamb. "Deciphering the role of platelet alpha granules in alveolar-capillary breakdown in severe malaria". Journal of Immunology 210, nr 1_Supplement (1.05.2023): 241.13. http://dx.doi.org/10.4049/jimmunol.210.supp.241.13.
Pełny tekst źródłaBottega, Roberta, Elena Nicchia, Caterina Alfano, Ana C. Glembotsky, Annalisa Pastore, Debora Bertaggia-Calderara, Bettina Bisig i in. "Gray platelet syndrome: Novel mutations of the NBEAL2 gene". American Journal of Hematology 92, nr 2 (17.01.2017): E20—E22. http://dx.doi.org/10.1002/ajh.24610.
Pełny tekst źródłaPluthero, Fred G., Jorge Di Paola, Manuel D. Carcao i Walter H. A. Kahr. "NBEAL2 mutations and bleeding in patients with gray platelet syndrome". Platelets 29, nr 6 (5.06.2018): 632–35. http://dx.doi.org/10.1080/09537104.2018.1478405.
Pełny tekst źródłaNand, Sucha, Manuel O. Diaz, David E. Marinier, Mark A. Walshauser, Amy B. Rosenfeld, Laura C. Michaelis, Patrick J. Stiff i Xiaowu Gai. "Germ-Line and Somatic Mutations in Familial Myeloproliferative Neoplasms (MPNs). a Pilot Study". Blood 124, nr 21 (6.12.2014): 3214. http://dx.doi.org/10.1182/blood.v124.21.3214.3214.
Pełny tekst źródłaDeppermann, Carsten, Deya Cherpokova, Paquita Nurden, Jan-Niklas Schulz, Ina Thielmann, Peter Kraft, Timo Vögtle i in. "Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice". Journal of Clinical Investigation 123, nr 8 (1.07.2013): 3331–42. http://dx.doi.org/10.1172/jci69210.
Pełny tekst źródłaKahr, Walter HA, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W. Rowley, Fred G. Pluthero i in. "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome". Nature Genetics 43, nr 8 (17.07.2011): 738–40. http://dx.doi.org/10.1038/ng.884.
Pełny tekst źródłaWijgaerts, Anouck, Christine Wittevrongel, Chantal Thys, Timothy Devos, Kathelijne Peerlinck, Marloes R. Tijssen, Chris Van Geet i Kathleen Freson. "The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer". Haematologica 102, nr 4 (12.01.2017): 695–706. http://dx.doi.org/10.3324/haematol.2016.152777.
Pełny tekst źródłaSowerby, John M., David C. Thomas, Simon Clare, Marion Espéli, Jose A. Guerrero, Kim Hoenderdos, Katherine Harcourt i in. "NBEAL2 is required for neutrophil and NK cell function and pathogen defense". Journal of Clinical Investigation 127, nr 9 (7.08.2017): 3521–26. http://dx.doi.org/10.1172/jci91684.
Pełny tekst źródłaTomberg, Kärt, Rami Khoriaty, Randal J. Westrick, Heather E. Fairfield, Laura G. Reinholdt, Gary L. Brodsky, Pavel Davizon-Castillo, David Ginsburg i Jorge Di Paola. "Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice". PLOS ONE 11, nr 3 (7.03.2016): e0150852. http://dx.doi.org/10.1371/journal.pone.0150852.
Pełny tekst źródłaAlbers, Cornelis A., Ana Cvejic, Rémi Favier, Evelien E. Bouwmans, Marie-Christine Alessi, Paul Bertone, Gregory Jordan i in. "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics 43, nr 8 (17.07.2011): 735–37. http://dx.doi.org/10.1038/ng.885.
Pełny tekst źródłaBottega, R., A. Pecci, E. De Candia, N. Pujol-Moix, P. G. Heller, P. Noris, D. De Rocco i in. "Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and -granule deficiency". Haematologica 98, nr 6 (25.10.2012): 868–74. http://dx.doi.org/10.3324/haematol.2012.075861.
Pełny tekst źródłaBarg, A., E. Avishai, R. Dardik, S. Levy-Mendelovich, O. Cohen, B. Roth Jelinek, O. Barel, T. Livnat i 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 (październik 2023): 101518. http://dx.doi.org/10.1016/j.rpth.2023.101518.
Pełny tekst źródłaCao, Lijuan, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia i Changgeng Ruan. "A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome". Platelets 29, nr 3 (15.05.2017): 288–91. http://dx.doi.org/10.1080/09537104.2017.1306041.
Pełny tekst źródłaGunay-Aygun, Meral, Tzipora C. Falik-Zaccai, Thierry Vilboux, Yifat Zivony-Elboum, Fatma Gumruk, Mualla Cetin, Morad Khayat i in. "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nature Genetics 43, nr 8 (17.07.2011): 732–34. http://dx.doi.org/10.1038/ng.883.
Pełny tekst źródłaRiley, Roger, Asad Khan, Shella Pai, Laura Warmke, Marcus Winkler i William Gunning. "A Case of Chronic Thrombocytopenia in a 17-Year-Old Female". Laboratory Medicine 50, nr 4 (22.06.2019): 406–20. http://dx.doi.org/10.1093/labmed/lmz013.
Pełny tekst źródłaCoenen, D., i 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 (październik 2023): 101685. http://dx.doi.org/10.1016/j.rpth.2023.101685.
Pełny tekst źródłaLo, Richard W., Ling Li, Richard Leung, Fred G. Pluthero i 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, nr 10 (październik 2018): 2435–47. http://dx.doi.org/10.1161/atvbaha.118.311270.
Pełny tekst źródłaLouzil, Jan, Jana Stikarova, Dana Provaznikova, Ingrid Hrachovinova, Tereza Fenclova, Jan Musil, Martin Radek i in. "Diagnosing Czech Patients with Inherited Platelet Disorders". International Journal of Molecular Sciences 23, nr 22 (19.11.2022): 14386. http://dx.doi.org/10.3390/ijms232214386.
Pełny tekst źródłaUrban, Denisa, Ling Li, Hilary Christensen, Fred G. Pluthero, Shao Zun Chen, Michael Puhacz, Parvesh M. Garg i in. "The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis". Blood 120, nr 25 (13.12.2012): 5032–40. http://dx.doi.org/10.1182/blood-2012-05-431205.
Pełny tekst źródłaMohamed, Sara, Martina Di Palma, Michela Faleschini, Daniela De Benedittis, Maria Luisa Moleti, Luisa Cardarelli, Anna Maria Testi, Giovanna Palumbo, Anna Savoia i Fiorina Giona. "Chronic Thrombocytopenia in Children: What Could It Hide?" Blood 136, Supplement 1 (5.11.2020): 33–34. http://dx.doi.org/10.1182/blood-2020-138651.
Pełny tekst źródłaJia, Siyuan, Yunyan He, Meirong Lu, Ning Liao, Yonghong Lei, Nikuze Lauriane, Kairong Liang i 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 (czerwiec 2019): 143–47. http://dx.doi.org/10.1016/j.gene.2019.03.067.
Pełny tekst źródłaCollins, J., H. Foster, L. Mayer, A. Crosby, A. Evans, W. Lau, S. Mason i in. "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 (październik 2023): 101493. http://dx.doi.org/10.1016/j.rpth.2023.101493.
Pełny tekst źródłaKahr, Walter H. "Molecular Triggers of Granule Formation in Megakaryocytes and Platelets". Blood 120, nr 21 (16.11.2012): SCI—34—SCI—34. http://dx.doi.org/10.1182/blood.v120.21.sci-34.sci-34.
Pełny tekst źródłaShibata, Yusuke, Kazuhito Kawakita i 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, nr 9 (wrzesień 2010): 1130–42. http://dx.doi.org/10.1094/mpmi-23-9-1130.
Pełny tekst źródłaLuo, Fangxiu, Jialu Zhao, Yubao Chen, Zhenping Peng, Ran An, Yeling Lu i Jiaming Li. "Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome". Global Medical Genetics 11, nr 02 (czerwiec 2024): 187–95. http://dx.doi.org/10.1055/s-0044-1787752.
Pełny tekst źródłaNaik, Gurudatta, Dongquan Chen, Michael Crowley, David Crossman, Katherine C. Sexton, William E. Grizzle, Amitkumar N. Mehta i Guru Sonpavde. "Whole-exome sequencing (WES) of penile squamous cell carcinoma (PSCC) to identify multiple recurrent mutations." Journal of Clinical Oncology 34, nr 2_suppl (10.01.2016): 484. http://dx.doi.org/10.1200/jco.2016.34.2_suppl.484.
Pełny tekst źródłaAbraham, Shirley M., Dong Chen, Karen Simon, Thomas Markello i William A. Gahl. "GFI1B Mutation Associated Alpha-Delta Platelet Storage-Pool Deficiency: A Case Report and Its Potential Important Implication". Blood 128, nr 22 (2.12.2016): 3727. http://dx.doi.org/10.1182/blood.v128.22.3727.3727.
Pełny tekst źródłaVincent, Benjamin G., Darshan Singh, Michael Wu, Sally A. Hunsucker, Gheath Alatrash, Kathryn Ruisaard, Pariya Sukhumalchandra i in. "RNA-Seq Expression Profiling of AML Stem Cells Reveals Differential Expression of Lineage Differentiation Markers and Novel Splice Variants." Blood 120, nr 21 (16.11.2012): 2502. http://dx.doi.org/10.1182/blood.v120.21.2502.2502.
Pełny tekst źródłaRivera, Candido E., Prakash Vishnu, Gretchen Schaef Johns, Rajiv K. Pruthi i 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 (29.11.2018): 1158. http://dx.doi.org/10.1182/blood-2018-99-117995.
Pełny tekst źródłaKapoor, Urvi, Shipra Kaicker, Jenny Shek, Robyn Gartrell i Monica Bhatia. "Two Hit Theory for the Pathogenesis of Type 3 Congenital Amegakaryocytic Thrombocytopenia". Blood 142, Supplement 1 (28.11.2023): 5454. http://dx.doi.org/10.1182/blood-2023-190490.
Pełny tekst źródłaBastida, Jose Maria, Mónica del Rey, Rocío Benito, Isabel Sanchez-Guiu, Susana Riesco, Maria Jesús Peñarrubia, Rosa Fisac i in. "Design and Validate of Next-Generation Sequencing Panel for Inherited Platelet Disorders". Blood 124, nr 21 (6.12.2014): 4210. http://dx.doi.org/10.1182/blood.v124.21.4210.4210.
Pełny tekst źródłaOchi, Yotaro, Kenichi Yoshida, Ying-Jung Huang, Ming-Chung Kuo, Yusuke Shiozawa, Yasuhito Nannya, Yuichi Shiraishi i in. "Molecular Profiling of Blastic Transformation in Chronic Myeloid Leukemia". Blood 132, Supplement 1 (29.11.2018): 1725. http://dx.doi.org/10.1182/blood-2018-99-114512.
Pełny tekst źródłaLim, Ken-Hong, Yu-Cheng Chang, Yi-Hao Chiang, Huan-Chau Lin, Chiao-Yi Chang, Ching-Sung Lin, Ling Huang i in. "Overexpression of Calr Mutants Perturbs Developmental Hematopoiesis in Zebrafish Embryos". Blood 128, nr 22 (2.12.2016): 4282. http://dx.doi.org/10.1182/blood.v128.22.4282.4282.
Pełny tekst źródłaJingyao, Ma, Zhenping Chen, Huiqing LIU, Jialu Zhang, Hao GU i Runhui Wu. "Application of High-Throughput Sequencing in the Diagnosis of Inherited Immune-Thrombocytopenia from Children Chronic/Refractory ITP". Blood 134, Supplement_1 (13.11.2019): 86. http://dx.doi.org/10.1182/blood-2019-126771.
Pełny tekst źródłaBloom, A. Anthony, Kevin W. Bowman, Junjie Liu, Alexandra G. Konings, John R. Worden, Nicholas C. Parazoo, Victoria Meyer i in. "Lagged effects regulate the inter-annual variability of the tropical carbon balance". Biogeosciences 17, nr 24 (17.12.2020): 6393–422. http://dx.doi.org/10.5194/bg-17-6393-2020.
Pełny tekst źródłaSingh, Ram Sewak, Demissie Jobir Gelmecha, Satyasis Mishra, Gemechu Dengia i 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, nr 3 (wrzesień 2022): 273–96. http://dx.doi.org/10.7546/ijba.2022.26.3.000786.
Pełny tekst źródłaChen-Liang, Tzu Hua, Ana M. Hurtado López, Laura Palomo, Teresa Bernal Del Castillo, Mar Tormo, Maria Lourdes Hermosin, María-José Jimenez i in. "Germline and Acquired Genetic Variants in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction". Blood 132, Supplement 1 (29.11.2018): 4339. http://dx.doi.org/10.1182/blood-2018-99-116045.
Pełny tekst źródłaZhang, Biao, Chao Song, Xuchu Jiang i Ying Li. "Electricity price forecast based on the STL-TCN-NBEATS model". Heliyon 9, nr 1 (styczeń 2023): e13029. http://dx.doi.org/10.1016/j.heliyon.2023.e13029.
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