Zobrazeno 1 - 10
of 458
pro vyhledávání: '"C. Wilkes"'
Publikováno v:
Frontiers in Rehabilitation Sciences, Vol 4 (2023)
IntroductionShared decision making is a concept in healthcare that actively involves patients in the management of their condition. The process of shared decision making is taught in clinical training programmes, including Audiology, where there are
Externí odkaz:
https://doaj.org/article/543ee58d526e4605b0732bb14fc71470
Publikováno v:
Haematologica, Vol 108, Iss 5 (2022)
Diamond-Blackfan anemia (DBA) is a ribosomopathy that is characterized by macrocytic anemia, congenital malformations, and early onset during childhood. Genetic studies have demonstrated that most patients carry mutations in one of the 20 related gen
Externí odkaz:
https://doaj.org/article/823a1fa0bda64500b5bfe45aa6620b62
Autor:
Kyrillus S. Shohdy, Rohan Bareja, Michael Sigouros, David C. Wilkes, Princesca Dorsaint, Jyothi Manohar, Daniel Bockelman, Jenny Z. Xiang, Rob Kim, Kentaro Ohara, Kenneth Eng, Juan Miguel Mosquera, Olivier Elemento, Andrea Sboner, Alicia Alonso, Bishoy M. Faltas
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract The availability of fresh frozen (FF) tissue is a barrier for implementing RNA sequencing (RNA-seq) in the clinic. The majority of clinical samples are stored as formalin-fixed, paraffin-embedded (FFPE) tissues. Exome capture platforms have
Externí odkaz:
https://doaj.org/article/be290d96afc142fb9fcbd3a2e94604c7
Autor:
Mayumi Sugita, David C. Wilkes, Rohan Bareja, Kenneth W. Eng, Sarah Nataraj, Reyna A. Jimenez-Flores, LunBiao Yan, Jeanne Pauline De Leon, Jaclyn A. Croyle, Justin Kaner, Swathi Merugu, Sahil Sharma, Theresa Y. MacDonald, Zohal Noorzad, Palak Panchal, Danielle Pancirer, Shuhua Cheng, Jenny Z. Xiang, Luke Olson, Koen Van Besien, David S. Rickman, Susan Mathew, Wayne Tam, Mark A. Rubin, Himisha Beltran, Andrea Sboner, Duane C. Hassane, Gabriela Chiosis, Olivier Elemento, Gail J. Roboz, Juan Miguel Mosquera, Monica L. Guzman
Publikováno v:
npj Precision Oncology, Vol 5, Iss 1, Pp 1-10 (2021)
Abstract The epichaperome is a new cancer target composed of hyperconnected networks of chaperome members that facilitate cell survival. Cancers with an altered chaperone configuration may be susceptible to epichaperome inhibitors. We developed a flo
Externí odkaz:
https://doaj.org/article/9b26f08bf6d444edb5f3140c7fcddf4c
Autor:
Aram Vosoughi, Tuo Zhang, Kyrillus S. Shohdy, Panagiotis J. Vlachostergios, David C. Wilkes, Bhavneet Bhinder, Scott T. Tagawa, David M. Nanus, Ana M. Molina, Himisha Beltran, Cora N. Sternberg, Samaneh Motanagh, Brian D. Robinson, Jenny Xiang, Xiao Fan, Wendy K. Chung, Mark A. Rubin, Olivier Elemento, Andrea Sboner, Juan Miguel Mosquera, Bishoy M. Faltas
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
The role of germline variation in human cancers is not fully understood. Here, the authors define the landscape of putative deleterious germline variants that abrogate tumor suppressor proteins in advanced urothelial cancer patients.
Externí odkaz:
https://doaj.org/article/841aaee60ec54eb68cb48ba20fbccfd4
Autor:
M. C. Wilkes, K. Siva, J. Chen, G. Varetti, M. Y. Youn, H. Chae, F. Ek, R. Olsson, T. Lundbäck, D. P. Dever, T. Nishimura, A. Narla, B. Glader, H. Nakauchi, M. H. Porteus, C. E. Repellin, H. T. Gazda, S. Lin, M. Serrano, J. Flygare, K. M. Sakamoto
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)
Diamond Blackfan Anemia (DBA) is a congenital bone marrow failure syndrome that is associated with anemia. Here, the authors examine the role of Nemo-like kinase (NLK) in erythroid cells in the pathogenesis of DBA and as a potential target for therap
Externí odkaz:
https://doaj.org/article/36f32df2c5f64f50a787e28db8a527f5
Autor:
T. D. Pering, E. J. Liu, K. Wood, T. C. Wilkes, A. Aiuppa, G. Tamburello, M. Bitetto, T. Richardson, A. J. S. McGonigle
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
Combining multiple ultraviolet cameras with synchronous aerial measurements, the authors here present vent-specific gas compositions and fluxes for Stromboli volcano. The results show that gas compositions vary between different vents, mirroring diff
Externí odkaz:
https://doaj.org/article/cec565e292eb4900970ef009ea3a460a
Autor:
David J. Pisapia, Kentaro Ohara, Rohan Bareja, David C. Wilkes, Erika Hissong, Jaclyn A. Croyle, Joon-Hyung Kim, Jad Saab, Theresa Y. MacDonald, Shaham Beg, Catherine O’Reilly, Sarah Kudman, Mark A. Rubin, Olivier Elemento, Andrea Sboner, Jeffrey Greenfield, Juan Miguel Mosquera
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-11 (2020)
Abstract BCOR has been recognized as a recurrently altered gene in a subset of pediatric tumors of the central nervous system (CNS). Here, we describe a novel BCOR-CREBBP fusion event in a case of pediatric infiltrating astrocytoma and further probe
Externí odkaz:
https://doaj.org/article/27779ed425e6468893b7eaba6b3381ab
Autor:
Minyoung Youn, Haigen Huang, Cheng Chen, Sharon Kam, Mark C. Wilkes, Hee-Don Chae, Kunju J. Sridhar, Peter L. Greenberg, Bertil Glader, Anupama Narla, Shuo Lin, Kathleen M. Sakamoto
Publikováno v:
Blood Advances, Vol 3, Iss 18, Pp 2751-2763 (2019)
The del(5q) myelodysplastic syndrome (MDS) is a distinct subtype of MDS, associated with deletion of the ribosomal protein S14 (RPS14) gene that results in macrocytic anemia. This study sought to identify novel targets for the treatment of patients w
Externí odkaz:
https://doaj.org/article/f293d06ad8ca4576845be250edd62e69
Autor:
Mark C. Wilkes, Vanessa Scanlon, Aya Shibuya, Alma-Martina Cepika, Ascia Eskin, Zugen Chen, Anupama Narla, Bert Glader, Maria Grazia Roncarolo, Stanley F. Nelson, Kathleen M. Sakamoto
Publikováno v:
Experimental Hematology. 111:66-78
Diamond-Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome that is associated with anemia, congenital anomalies, and cancer predisposition. It is categorized as a ribosomopathy, because more than 80% or patients have haploinsufficienc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c7598c5921a6fb05add5295d61b8a1
https://doi.org/10.1016/j.exphem.2022.04.005
https://doi.org/10.1016/j.exphem.2022.04.005