Zobrazeno 1 - 10
of 118
pro vyhledávání: '"P. J. Wierenga"'
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/7330cbbda97649539c05138a79d450aa
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause
Externí odkaz:
https://doaj.org/article/379d322058a142068b8b67a35317dec9
Autor:
Diego A Pereira-Martins, César Alexander Ortiz Rojas, Isabel Weinhauser, Douglas Silveira, Albertus T J Wierenga, Vincent van den Boom, Thiago M Bianco, Emanuele Ammatuna, Lynn Quek, Antonio R Lucena-Araujo, Gerwin Huls, Eduardo Rego, Jan Jacob Schuringa
Publikováno v:
HemaSphere, Vol 7, p e179931b (2023)
Externí odkaz:
https://doaj.org/article/5fedf24a1fb64b159457d1244ae87bd2
Autor:
Ayşegül Erdem, Silvia Marin, Diego A. Pereira-Martins, Marjan Geugien, Alan Cunningham, Maurien G. Pruis, Isabel Weinhäuser, Albert Gerding, Barbara M. Bakker, Albertus T. J. Wierenga, Eduardo M. Rego, Gerwin Huls, Marta Cascante, Jan Jacob Schuringa
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Inhibition of specific metabolic pathways often drives metabolic adaptation. Here, the authors show that FLT3-ITD + acute myeloid leukemia cells are OXPHOS-driven, and inhibition of complex II activity results in increased lactate influx to drive res
Externí odkaz:
https://doaj.org/article/c6190c32ad6545bcbde3640dce0f4ff7
Autor:
Ayşegül Erdem, Silvia Marin, Diego A. Pereira-Martins, Roldán Cortés, Alan Cunningham, Maurien G. Pruis, Bauke de Boer, Fiona A. J. van den Heuvel, Marjan Geugien, Albertus T. J. Wierenga, Annet Z. Brouwers-Vos, Eduardo M. Rego, Gerwin Huls, Marta Cascante, Jan Jacob Schuringa
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Acute myeloid leukemia (AML) is genetically a very heterogeneous disease. Here, Erdem et al. uncover heterogeneity in the metabolic landscape of AML and identify Pyruvate dehydrogenase kinase 1 (PDK1) as a targetable determinant of different metaboli
Externí odkaz:
https://doaj.org/article/0f8fe7450b4e4f25a3960cce038a7ad3
Autor:
Arianna Maffei, Michela Chiappalone, Liana Fattore, Elizabeth B. Torres, Marie-Ève Tremblay, Corette J. Wierenga
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 16 (2022)
Externí odkaz:
https://doaj.org/article/538af7be27cd4ce9a73c82383a8d0953
Autor:
Erica L. Macke, Joel A. Morales‐Rosado, Sarah K. Macklin‐Mantia, Christopher T. Schmitz, Björn Oskarsson, Eric W. Klee, Klaas J. Wierenga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Background Achalasia‐addisonianism‐alacrima syndrome, frequently referred to as Allgrove syndrome or Triple A syndrome, is a multisystem disorder resulting from homozygous or compound heterozygous pathogenic variants in the gene encoding
Externí odkaz:
https://doaj.org/article/df4c2837aabc49f0ad116b97a6d2a9ba
Autor:
Albertus T. J. Wierenga, Alan Cunningham, Ayşegül Erdem, Nuria Vilaplana Lopera, Annet Z. Brouwers-Vos, Maurien Pruis, André B. Mulder, Ulrich L. Günther, Joost H. A. Martens, Edo Vellenga, Jan Jacob Schuringa
Publikováno v:
Cancer & Metabolism, Vol 7, Iss 1, Pp 1-17 (2019)
Abstract Background Hypoxia-inducible factors (HIF)1 and 2 are transcription factors that regulate the homeostatic response to low oxygen conditions. Since data related to the importance of HIF1 and 2 in hematopoietic stem and progenitors is conflict
Externí odkaz:
https://doaj.org/article/bc991f9e636e41c6936e5e05d890d9b1
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Biallelic pathogenic variants in HTRA1 cause CARASIL. More recently, monoallelic variants have been associated with the autosomal dominant disorder CADASIL2 but not all carriers develop disease manifestations. We describe the clin
Externí odkaz:
https://doaj.org/article/2962f7d32b1f48f1a28dc54b74eb2e4e
Autor:
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)
Abstract Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1‐related myopathies were characterized by h
Externí odkaz:
https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631