Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Daniel M Ramos"'
Autor:
Joseph M Replogle, Jessica L Bonnar, Angela N Pogson, Christina R Liem, Nolan K Maier, Yufang Ding, Baylee J Russell, Xingren Wang, Kun Leng, Alina Guna, Thomas M Norman, Ryan A Pak, Daniel M Ramos, Michael E Ward, Luke A Gilbert, Martin Kampmann, Jonathan S Weissman, Marco Jost
Publikováno v:
eLife, Vol 11 (2022)
CRISPR interference (CRISPRi) enables programmable, reversible, and titratable repression of gene expression (knockdown) in mammalian cells. Initial CRISPRi-mediated genetic screens have showcased the potential to address basic questions in cell biol
Externí odkaz:
https://doaj.org/article/af03cd98b4f34c128b98cd963fa2ba56
Autor:
Noam Auslander, Daniel M Ramos, Ivette Zelaya, Hiren Karathia, Thomas O. Crawford, Alejandro A Schäffer, Charlotte J Sumner, Eytan Ruppin
Publikováno v:
Molecular Systems Biology, Vol 16, Iss 12, Pp n/a-n/a (2020)
Abstract Modifier genes are believed to account for the clinical variability observed in many Mendelian disorders, but their identification remains challenging due to the limited availability of genomics data from large patient cohorts. Here, we pres
Externí odkaz:
https://doaj.org/article/3de22a2ac37c4d438a901282d752a3e5
Autor:
Sahba Seddighi, Yue A. Qi, Anna-Leigh Brown, Oscar G. Wilkins, Colleen Bereda, Cedric Belair, Yongjie Zhang, Mercedes Prudencio, Matthew J Keuss, Aditya Khandeshi, Sarah Pickles, Sarah E. Hill, James Hawrot, Daniel M. Ramos, Hebao Yuan, Jessica Roberts, Erika Kelmer Sacramento, Syed I. Shah, Mike A. Nalls, Jenn Colon-Mercado, Joel F. Reyes, Veronica H. Ryan, Matthew P. Nelson, Casey Cook, Ziyi Li, Laurel Screven, Justin Y Kwan, Anantharaman Shantaraman, Lingyan Ping, Yuka Koike, Björn Oskarsson, Nathan Staff, Duc M. Duong, Aisha Ahmed, Maria Secrier, Jerneg Ule, Steven Jacobson, Jonathan Rohrer, Andrea Malaspina, Jonathan D. Glass, Alessandro Ori, Nicholas T. Seyfried, Manolis Maragkakis, Leonard Petrucelli, Pietro Fratta, Michael E. Ward
Publikováno v:
bioRxiv
Functional loss of TDP-43, an RNA-binding protein genetically and pathologically linked to ALS and FTD, leads to inclusion of cryptic exons in hundreds of transcripts during disease. Cryptic exons can promote degradation of affected transcripts, dele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52de4bfdb559430326ffc82718aa6b2a
https://europepmc.org/articles/PMC9900763/
https://europepmc.org/articles/PMC9900763/
Autor:
Luke Reilly, Erika Lara, Daniel M. Ramos, Ziyi Li, Caroline B. Pantazis, Julia Stadler, Marianita Santiana, Jessica Roberts, Faraz Faghri, Mike A. Nalls, Priyanka Narayan, Yansheng Liu, Andrew B. Singleton, Mark R. Cookson, Michael E. Ward, Yue Qi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8fbf2a903efb60995b5268e92d93c63a
https://doi.org/10.2139/ssrn.4332052
https://doi.org/10.2139/ssrn.4332052
Autor:
Angela N Pogson, Jessica L Bonnar, Joseph M Replogle, Christina R Liem, Nolan K Maier, Yufang Ding, Baylee J Russell, Xingren Wang, Kun Leng, Alina Guna, Thomas M Norman, Ryan A Pak, Daniel M Ramos, Michael E Ward, Luke A Gilbert, Martin Kampmann, Jonathan S Weissman, Marco Jost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e7d2d97d229edac14829d4e3858e296
https://doi.org/10.7554/elife.81856.sa2
https://doi.org/10.7554/elife.81856.sa2
Autor:
Joseph M. Replogle, Jessica L. Bonnar, Angela N. Pogson, Christina R. Liem, Nolan K. Maier, Yufang Ding, Baylee J. Russell, Xingren Wang, Kun Leng, Alina Guna, Thomas M. Norman, Ryan A. Pak, Daniel M. Ramos, Michael E. Ward, Luke A. Gilbert, Martin Kampmann, Jonathan S. Weissman, Marco Jost
CRISPR interference (CRISPRi) enables programmable, reversible, and titratable repression of gene expression (knockdown) in mammalian cells. Initial CRISPRi-mediated genetic screens have showcased the potential to address basic questions in cell biol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fdf7ca55256386579b422055fd4e823
https://doi.org/10.1101/2022.07.13.499814
https://doi.org/10.1101/2022.07.13.499814
Autor:
Anant Dadu, Vipul K. Satone, Rachneet Kaur, Mathew J. Koretsky, Hirotaka Iwaki, Yue A. Qi, Daniel M. Ramos, Brian Avants, Jacob Hesterman, Roger Gunn, Mark R. Cookson, Michael E. Ward, Andrew B Singleton, Roy H Campbell, Mike A Nalls, Faraz Faghri
Publikováno v:
SSRN Electronic Journal.
Longitudinal multi-dimensional biological datasets are ubiquitous and highly abundant. These datasets are essential to understanding disease progression, identifying subtypes, and drug discovery. Discovering meaningful patterns or disease pathophysio
Autor:
Caroline B. Pantazis, Andrian Yang, Erika Lara, Justin A. McDonough, Cornelis Blauwendraat, Lirong Peng, Hideyuki Oguro, Jitendra Kanaujiya, Jizhong Zou, David Sebesta, Gretchen Pratt, Erin Cross, Jeffrey Blockwick, Philip Buxton, Lauren Kinner-Bibeau, Constance Medura, Christopher Tompkins, Stephen Hughes, Marianita Santiana, Faraz Faghri, Mike A. Nalls, Daniel Vitale, Shannon Ballard, Yue A. Qi, Daniel M. Ramos, Kailyn M. Anderson, Julia Stadler, Priyanka Narayan, Jason Papademetriou, Luke Reilly, Matthew P. Nelson, Sanya Aggarwal, Leah U. Rosen, Peter Kirwan, Venkat Pisupati, Steven L. Coon, Sonja W. Scholz, Theresa Priebe, Miriam Öttl, Jian Dong, Marieke Meijer, Lara J.M. Janssen, Vanessa S. Lourenco, Rik van der Kant, Dennis Crusius, Dominik Paquet, Ana-Caroline Raulin, Guojun Bu, Aaron Held, Brian J. Wainger, Rebecca M.C. Gabriele, Jackie M. Casey, Selina Wray, Dad Abu-Bonsrah, Clare L. Parish, Melinda S. Beccari, Don W. Cleveland, Emmy Li, Indigo V.L. Rose, Martin Kampmann, Carles Calatayud Aristoy, Patrik Verstreken, Laurin Heinrich, Max Y. Chen, Birgitt Schüle, Dan Dou, Erika L.F. Holzbaur, Maria Clara Zanellati, Richa Basundra, Mohanish Deshmukh, Sarah Cohen, Richa Khanna, Malavika Raman, Zachary S. Nevin, Madeline Matia, Jonas Van Lent, Vincent Timmerman, Bruce R. Conklin, Katherine Johnson Chase, Ke Zhang, Salome Funes, Daryl A. Bosco, Lena Erlebach, Marc Welzer, Deborah Kronenberg-Versteeg, Guochang Lyu, Ernest Arenas, Elena Coccia, Lily Sarrafha, Tim Ahfeldt, John C. Marioni, William C. Skarnes, Mark R. Cookson, Michael E. Ward, Florian T. Merkle
Publikováno v:
Cell stem cell 29(12), 1685-1702.e22 (2022). doi:10.1016/j.stem.2022.11.004
Cell stem cell
Cell Stem Cell, 29(12), 1685-1702.e22. Cell Press
Pantazis, C B, Yang, A, Lara, E, McDonough, J A, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, M A, Vitale, D, Ballard, S, Qi, Y A, Ramos, D M, Anderson, K M, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, M P, Aggarwal, S, Rosen, L U, Kirwan, P, Pisupati, V, Coon, S L, Scholz, S W, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, L J M, Lourenco, V S, van der Kant, R, Crusius, D, Paquet, D, Raulin, A C, Bu, G, Held, A, Wainger, B J, Gabriele, R M C, Casey, J M, Wray, S, Abu-Bonsrah, D, Parish, C L, Beccari, M S, Cleveland, D W, Li, E, Rose, I V L, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, M Y, Schüle, B, Dou, D, Holzbaur, E L F, Zanellati, M C, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, Z S, Matia, M, Van Lent, J, Timmerman, V, Conklin, B R, Johnson Chase, K, Zhang, K, Funes, S, Bosco, D A, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, J C, Skarnes, W C, Cookson, M R, Ward, M E & Merkle, F T 2022, ' A reference human induced pluripotent stem cell line for large-scale collaborative studies ', Cell Stem Cell, vol. 29, no. 12, pp. 1685-1702.e22 . https://doi.org/10.1016/j.stem.2022.11.004
Pantazis, C B, Yang, A, Lara, E, McDonough, J A, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, M A, Vitale, D, Ballard, S, Qi, Y A, Ramos, D M, Anderson, K M, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, M P, Aggarwal, S, Rosen, L U, Kirwan, P, Pisupati, V, Coon, S L, Scholz, S W, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, L J M, Lourenco, V S, van der Kant, R, Crusius, D, Paquet, D, Raulin, A-C, Bu, G, Held, A, Wainger, B J, Gabriele, R M C, Casey, J M, Wray, S, Abu-Bonsrah, D, Parish, C L, Beccari, M S, Cleveland, D W, Li, E, Rose, I V L, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, M Y, Schüle, B, Dou, D, Holzbaur, E L F, Zanellati, M C, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, Z S, Matia, M, van Lent, J, Timmerman, V, Conklin, B R, Johnson Chase, K, Zhang, K, Funes, S, Bosco, D A, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, J C, Skarnes, W C, Cookson, M R, Ward, M E & Merkle, F T 2022, ' A reference human induced pluripotent stem cell line for large-scale collaborative studies ', Cell Stem Cell, vol. 29, no. 12, pp. 1685-1702.e22 . https://doi.org/10.1016/j.stem.2022.11.004
Cell Stem Cell, 29(12), 1685-1702.e22. Elsevier
Cell stem cell
Cell Stem Cell, 29(12), 1685-1702.e22. Cell Press
Pantazis, C B, Yang, A, Lara, E, McDonough, J A, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, M A, Vitale, D, Ballard, S, Qi, Y A, Ramos, D M, Anderson, K M, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, M P, Aggarwal, S, Rosen, L U, Kirwan, P, Pisupati, V, Coon, S L, Scholz, S W, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, L J M, Lourenco, V S, van der Kant, R, Crusius, D, Paquet, D, Raulin, A C, Bu, G, Held, A, Wainger, B J, Gabriele, R M C, Casey, J M, Wray, S, Abu-Bonsrah, D, Parish, C L, Beccari, M S, Cleveland, D W, Li, E, Rose, I V L, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, M Y, Schüle, B, Dou, D, Holzbaur, E L F, Zanellati, M C, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, Z S, Matia, M, Van Lent, J, Timmerman, V, Conklin, B R, Johnson Chase, K, Zhang, K, Funes, S, Bosco, D A, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, J C, Skarnes, W C, Cookson, M R, Ward, M E & Merkle, F T 2022, ' A reference human induced pluripotent stem cell line for large-scale collaborative studies ', Cell Stem Cell, vol. 29, no. 12, pp. 1685-1702.e22 . https://doi.org/10.1016/j.stem.2022.11.004
Pantazis, C B, Yang, A, Lara, E, McDonough, J A, Blauwendraat, C, Peng, L, Oguro, H, Kanaujiya, J, Zou, J, Sebesta, D, Pratt, G, Cross, E, Blockwick, J, Buxton, P, Kinner-Bibeau, L, Medura, C, Tompkins, C, Hughes, S, Santiana, M, Faghri, F, Nalls, M A, Vitale, D, Ballard, S, Qi, Y A, Ramos, D M, Anderson, K M, Stadler, J, Narayan, P, Papademetriou, J, Reilly, L, Nelson, M P, Aggarwal, S, Rosen, L U, Kirwan, P, Pisupati, V, Coon, S L, Scholz, S W, Priebe, T, Öttl, M, Dong, J, Meijer, M, Janssen, L J M, Lourenco, V S, van der Kant, R, Crusius, D, Paquet, D, Raulin, A-C, Bu, G, Held, A, Wainger, B J, Gabriele, R M C, Casey, J M, Wray, S, Abu-Bonsrah, D, Parish, C L, Beccari, M S, Cleveland, D W, Li, E, Rose, I V L, Kampmann, M, Calatayud Aristoy, C, Verstreken, P, Heinrich, L, Chen, M Y, Schüle, B, Dou, D, Holzbaur, E L F, Zanellati, M C, Basundra, R, Deshmukh, M, Cohen, S, Khanna, R, Raman, M, Nevin, Z S, Matia, M, van Lent, J, Timmerman, V, Conklin, B R, Johnson Chase, K, Zhang, K, Funes, S, Bosco, D A, Erlebach, L, Welzer, M, Kronenberg-Versteeg, D, Lyu, G, Arenas, E, Coccia, E, Sarrafha, L, Ahfeldt, T, Marioni, J C, Skarnes, W C, Cookson, M R, Ward, M E & Merkle, F T 2022, ' A reference human induced pluripotent stem cell line for large-scale collaborative studies ', Cell Stem Cell, vol. 29, no. 12, pp. 1685-1702.e22 . https://doi.org/10.1016/j.stem.2022.11.004
Cell Stem Cell, 29(12), 1685-1702.e22. Elsevier
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research group
Autor:
Sergey Paushkin, Charlotte J. Sumner, Frank Rigo, Ian Waters, Pamela J. Snyder, Thomas W. Prior, Shannon J. Taylor, Constantin d’Ydewalle, Christine L. Hatem, Nikhil Gupte, Thomas O. Crawford, Daniel A. Norris, John B. Matson, Amal Dakka, Kathryn J. Swoboda, C. Frank Bennett, Phillip G. Zaworski, Nikolai Naryshkin, Vijayalakshmi Gabbeta, Stephanie Klein, Daniel M. Ramos, David Valdivia
Publikováno v:
Journal of Clinical Investigation. 129:4817-4831
BACKGROUND: Spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable clinical benefits. Limited knowledge of baseline and drug-induced SMN leve
Autor:
Alexander Stephan, Lingling Kong, Thomas O. Crawford, Nikolai Naryshkin, Christian M. Simon, Nicolas Delestrée, Crystal Davis, Melissa E. Crowder, Xixi Xu, George Z. Mentis, Zachary A. King, Marla Weetall, Cera W. Hassinan, Chloe C. Grzyb, Marco Petrillo, Kathryn J. Swoboda, Cathleen M. Lutz, Celeste M. Pilato, Charlotte J. Sumner, Xin Zhao, David Valdivia, Daniel M. Ramos, Jae Hong Park
Publikováno v:
Sci Transl Med
Gene replacement and pre-mRNA splicing modifier therapies represent breakthrough gene targeting treatments for the neuromuscular disease spinal muscular atrophy (SMA), but mechanisms underlying variable efficacy of treatment are incompletely understo