Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Seth I Berger"'
Autor:
Jens Hansen, Yuguang Xiong, Mustafa M. Siddiq, Priyanka Dhanan, Bin Hu, Bhavana Shewale, Arjun S. Yadaw, Gomathi Jayaraman, Rosa E. Tolentino, Yibang Chen, Pedro Martinez, Kristin G. Beaumont, Robert Sebra, Dusica Vidovic, Stephan C. Schürer, Joseph Goldfarb, James M. Gallo, Marc R. Birtwistle, Eric A. Sobie, Evren U. Azeloglu, Seth I. Berger, Angel Chan, Christoph Schaniel, Nicole C. Dubois, Ravi Iyengar
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-17 (2024)
Abstract Drug-induced gene expression profiles can identify potential mechanisms of toxicity. We focus on obtaining signatures for cardiotoxicity of FDA-approved tyrosine kinase inhibitors (TKIs) in human induced-pluripotent-stem-cell-derived cardiom
Externí odkaz:
https://doaj.org/article/5c705931ae3749d8b0d5c464d5e8d788
Autor:
Michael D. Keller, Stefan A. Schattgen, Shanmuganathan Chandrakasan, E. Kaitlynn Allen, Mariah A. Jensen-Wachspress, Christopher A. Lazarski, Muna Qayed, Haili Lang, Patrick J. Hanley, Jay Tanna, Sung-Yun Pai, Suhag Parikh, Seth I. Berger, Stephen Gottschalk, Michael A. Pulsipher, Paul G. Thomas, Catherine M. Bollard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)
Abstract Virus-specific T cells (VST) from partially-HLA matched donors have been effective for treatment of refractory viral infections in immunocompromised patients in prior studies with a good safety profile, but rare adverse events have been desc
Externí odkaz:
https://doaj.org/article/2d98f25b1b53444d849e04310e6b7692
Autor:
Huda B. Al‐Kouatly, Kavya Shivashankar, Matthew H. Mossayebi, Mona Makhamreh, Elizabeth Critchlow, Zimeng Gao, Luther‐King Fasehun, Fowzan S. Alkuraya, Erin E. Ryan, Madhuri Hegde, Sascha Wodoslawsky, Joel Hughes, Seth I. Berger
Publikováno v:
Clinical Genetics. 103:503-512
Autor:
Sulgi Lee, Madhuri Kambhampati, M. Isabel Almira-Suarez, Cheng-Ying Ho, Eshini Panditharatna, Seth I. Berger, Joyce Turner, David Van Mater, Lindsay Kilburn, Roger J. Packer, John S. Myseros, Eric Vilain, Javad Nazarian, Miriam Bornhorst
Publikováno v:
Frontiers in Oncology, Vol 9 (2020)
Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation
Externí odkaz:
https://doaj.org/article/d2bac8e5f1d44d029b2c7bb1a8cc5b82
Autor:
Megan Raymond, Elizabeth Critchlow, Stephanie M. Rice, Sascha Wodoslawsky, Seth I. Berger, Madhuri Hegde, Philip E. Empey, Huda B. Al-Kouatly
Publikováno v:
Molecular Genetics and Metabolism. 137:140-145
Pharmacogenomics (PGx) characterizes genetic variation in medication response. 85-95% of the population carries actionable PGx variants. No prior studies have demonstrated the application and feasibility of PGx in prenatal testing. We assessed parent
Autor:
Charles J. Billington, Kimberly A. Chapman, Eyby Leon, Beatrix W. Meltzer, Seth I. Berger, Matthew Olson, Robert A. Figler, Steve A. Hoang, Cui Wanxing, Brian R. Wamhoff, M. Sol Collado, Kristina Cusmano‐Ozog
Publikováno v:
American Journal of Medical Genetics Part A. 188:2738-2749
Autor:
Seth I. Berger, Georgia Pitsava, Andrea J. Cohen, Emmanuèle C. Délot, Jonathan LoTempio, Erin Hallie Andrew, Gloria Mas Martin, Sofia Marmolejos, Jessica Albert, Beatrix Meltzer, Jamie Fraser, Debra S. Regier, Amanda H. Kahn‐Kirby, Erica Smith, Susan Knoblach, Arthur Ko, Vincent A. Fusaro, Eric Vilain
Publikováno v:
Clinical Genetics.
Autor:
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Publikováno v:
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; ... (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. (In Press). Brain : a journal of neurology Oxford University Press 10.1093/brain/awad039
In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b06949eaa976668e979bbd3a670e289
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22889
Autor:
Sébastien Küry, Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard, Tiphaine Hery, Mathilde Nizon, Grazia M.S. Mancini, Jacques C. Giltay, Benjamin Cogné, Kirsty McWalter, Wallid Deb, Hagar Mor-Shaked, Hong Li, Rhonda E. Schnur, Ingrid M. Wentzensen, Anne-Sophie Denommé-Pichon, Cynthia Fourgeux, Frans W. Verheijen, Eva Faurie, Rachel Schot, Cathy A. Stevens, Daphne J. Smits, Eileen Barr, Ruth Sheffer, Jonathan A. Bernstein, Chandler L. Stimach, Eliana Kovitch, Vandana Shashi, Kelly Schoch, Whitney Smith, Richard H. van Jaarsveld, Anna C.E. Hurst, Kirstin Smith, Evan H. Baugh, Suzanne G. Bohm, Emílie Vyhnálková, Lukáš Ryba, Capucine Delnatte, Juanita Neira, Dominique Bonneau, Annick Toutain, Jill A. Rosenfeld, Séverine Audebert-Bellanger, Brigitte Gilbert-Dussardier, Sylvie Odent, Frédéric Laumonnier, Seth I. Berger, Ann C.M. Smith, Franck Bourdeaut, Marc-Henri Stern, Richard Redon, Elke Krüger, Raphaël Margueron, Stéphane Bézieau, Jeremie Poschmann, Bertrand Isidor
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
American Journal of Human Genetics, 109(2), 361-372. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 2022, 109 (2), pp.361-372. ⟨10.1016/j.ajhg.2021.12.011⟩
American Journal of Human Genetics, 109(2), 361-372. Cell Press
Am J Hum Genet
International audience; Nuclear deubiquitinase BAP1 (BRCA1-associated protein 1) is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A). BAP1 is a tumor suppressor whose germline l
Autor:
Jalaj Garg, Milind Mahajan, Nicole Dubois, Kristin G. Beaumont, Katherine C. Michelis, Marc R. Birtwistle, Seth I. Berger, Joseph Goldfarb, Jason C. Kovacic, David C. Thomas, Marc A. Miller, Bino Mathew, Priyanka Dhanan, Teeya Raghunandan, Evren U. Azeloglu, Ravi Iyengar, Joseph Tripodi, Himali Weerahandi, Christoph Schaniel, Rafael Dariolli, Jens Hansen, Moara Machado, Gomathi Jayaraman, Stephan C. Schürer, Colleen S. Lynch, Bin Hu, David M. Gonzalez, Dusica Vidovic, Sunita L. D’Souza, Vesna Najfeld, Arjun Singh Yadaw, Eric A. Sobie, Neelima C. Tangirala, Eric E. Schadt, Yuguang Xiong, Robert Sebra
Publikováno v:
Stem Cell Reports
Summary A library of well-characterized human induced pluripotent stem cell (hiPSC) lines from clinically healthy human subjects could serve as a useful resource of normal controls for in vitro human development, disease modeling, genotype-phenotype