檢索結果 - David B. Beck
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Novel Somatic <scp><i>UBA1</i></scp> Variant in a Patient With <scp>VEXAS</scp> Syndrome 由 Blanka Stibůrková, Kateřina Pavelcová, Monika Beličková, Samuel J. Magaziner, Jason C. Collins, Achim Werner, David B. Beck, Veronika Balajková, Cyril Šálek, Martin Vostrý, H. Mann, Jiří Vencovský
出版 2023Artigo -
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<scp>VEXAS</scp> Syndrome: A Case Series From a <scp>Single‐Center</scp> Cohort of Italian Patients With Vasculitis 由 Francesco Muratore, Chiara Marvisi, Paola Castrignanò, Davide Nicoli, Enrico Farnetti, Orsola Bonanno, Rosina Longo, Piera Zaldini, Elena Galli, Nicholas Balanda, David B. Beck, Peter C. Grayson, Nicolò Pipitone, Luigi Boiardi, Carlo Salvarani
出版 2021Artigo -
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Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC 由 Hirotsugu Oda, David B. Beck, Hye Sun Kuehn, Natalia Sampaio Moura, Patrycja Hoffmann, Maria Ibarra, Jennifer Stoddard, Wanxia Li Tsai, Gustavo Gutierrez-Cruz, Massimo Gadina, Sergio D. Rosenzweig, Daniel L. Kastner, Luigi D. Notarangelo, Ivona Aksentijevich
出版 2019Artigo -
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The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 methylation 由 Lourdes Serrano, Paloma Martínez‐Redondo, Anna Marazuela-Duque, Berta N. Vázquez, Scott Dooley, Philipp Voigt, David B. Beck, Noriko Kane‐Goldsmith, Qiang Tong, Rosa M. Rabanal, Dolors Fondevila, Purificacı́on Muñoz, Marcus Krüger, Jay A. Tischfield, Alejandro Vaquero
出版 2013Artigo -
14
<scp>VEXAS</scp> syndrome: A review of bone marrow aspirate and biopsies reporting myeloid and erythroid precursor vacuolation 由 Hannah Cherniawsky, Jordan Friedmann, Hamish Nicolson, Natasha Dehghan, Ryan J. Stubbins, Lynda Foltz, Heather A. Leitch, Gayatri Sreenivasan, Kimberley Ambler, Thomas J. Nevill, Eric McGinnis, Lorena Wilson, David B. Beck, Luke Y. C. Chen, Krista Marcon
出版 2023Revisão -
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Novel somatic mutations in UBA1 as a cause of VEXAS syndrome 由 James A. Poulter, Jason C. Collins, Catherine Cargo, Ruth M. de Tute, Paul Evans, Daniela Ospina Cardona, David Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic
出版 2021Carta -
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Estimated Prevalence and Clinical Manifestations of <i>UBA1</i> Variants Associated With VEXAS Syndrome in a Clinical Population 由 David B. Beck, Dale L. Bodian, Vandan Shah, Uyenlinh L. Mirshahi, Jung Kim, Yi Ding, Samuel J. Magaziner, Natasha T. Strande, Anna Cantor, Jeremy S. Haley, Adam Cook, Wesley Hill, Alan L. Schwartz, Peter C. Grayson, Marcela A. Ferrada, Daniel L. Kastner, David J. Carey, Douglas R. Stewart
出版 2023Artigo -
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Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS 由 Zhijie Wu, Shouguo Gao, Qingyan Gao, Bhavisha A. Patel, Emma M. Groarke, Xingmin Feng, Ash Lee Manley, Haoran Li, Daniela Ospina Cardona, Sachiko Kajigaya, Lemlem Alemu, Diego Quinones Raffo, Amanda K. Ombrello, Marcela A. Ferrada, Peter C. Grayson, Katherine R. Calvo, Daniel L. Kastner, David B. Beck, Neal S. Young
出版 2023Artigo -
18
Shared and distinct mechanisms of UBA1 inactivation across different diseases 由 Jason C. Collins, Samuel J. Magaziner, Maya English, Bakar A. Hassan, Xiang Chen, Nicholas Balanda, Meghan Anderson, Athena Lam, Sebastian Fernandez‐Pol, Bernice Y. Kwong, Peter L. Greenberg, Benjamin Terrier, Mary E. Likhite, Olivier Kosmider, Yan Wang, N.L. Samara, Kylie J. Walters, David B. Beck, Achim Werner
出版 2024Artigo -
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Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in <i>UBA1</i> 由 Ifeyinwa E. Obiorah, Bhavisha A. Patel, Emma M. Groarke, Weixin Wang, Megan Trick, Amanda K. Ombrello, Marcela A. Ferrada, Zhijie Wu, Fernanda Gutierrez‐Rodrigues, Jennifer Lotter, Lorena Wilson, Patrycja Hoffmann, Daniela Ospina Cardona, Nisha Patel, Alina Dulau‐Florea, Daniel L. Kastner, Peter C. Grayson, David B. Beck, Neal S. Young, Katherine R. Calvo
出版 2021Artigo -
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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance 由 Oskar Schnappauf, Qing Zhou, Natalia Sampaio Moura, Amanda K. Ombrello, Drew G. Michael, Natalie Deuitch, Karyl S. Barron, Deborah L. Stone, Patrycja Hoffmann, Michael S. Hershfield, Carolyn Applegate, Hans T. Björnsson, David B. Beck, P. Dane Witmer, Nara Sobreira, Elizabeth Wohler, John A. Chiorini, The American Genome Center, Clifton L. Dalgard, NIH Intramural Sequencing Center, Daniel L. Kastner, Ivona Aksentijevich
出版 2020Artigo
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