Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Ruty Mehrian Shai"'
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Celia Williams, Ruty Mehrian Shai, Yongchun Wu, Ya-Hsuan Hsu, Traci Sitzer, Bryan Spann, Carol McCleary, Yi Mo, Carol A Miller
Publikováno v:
PLoS ONE, Vol 4, Iss 3, p e4936 (2009)
In Alzheimer's disease (AD), early deficits in learning and memory are a consequence of synaptic modification induced by toxic beta-amyloid oligomers (oAbeta). To identify immediate molecular targets downstream of oAbeta binding, we prepared synapton
Externí odkaz:
https://doaj.org/article/df3873bcf2dc48a5bbf6673d5a864f48
Autor:
Michela Biancolella, Vito Luigi Colona, Lucio Luzzatto, Jessica Lee Watt, Giorgio Mattiuz, Silvestro G. Conticello, Naftali Kaminski, Ruty Mehrian-Shai, Albert I. Ko, Gregg S. Gonsalves, Vasilis Vasiliou, Giuseppe Novelli, Juergen K. V. Reichardt
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-14 (2023)
Abstract Three and a half years after the pandemic outbreak, now that WHO has formally declared that the emergency is over, COVID-19 is still a significant global issue. Here, we focus on recent developments in genetic and genomic research on COVID-1
Externí odkaz:
https://doaj.org/article/4736bcccfd6844fc8b094ab42958a024
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Pediatric brain tumors are the most common solid tumor type and the leading cause of cancer-related death in children. The immune system plays an important role in cancer pathogenesis and in the response to immunotherapy treatments. T lymphocytes are
Externí odkaz:
https://doaj.org/article/666cba2835624513bc5d65b43393b268
Autor:
Anderson F. Brito, Nathan D. Grubaugh, Juergen K. V. Reichardt, Vito Luigi Colona, Michela Biancolella, Giuseppe Novelli, Ruty Mehrian-Shai, Lucio Luzzatto, Vasilis Vasiliou
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-13 (2021)
Human Genomics
Human Genomics
COVID-19 has engulfed the world and it will accompany us all for some time to come. Here, we review the current state at the milestone of 1 year into the pandemic, as declared by the WHO (World Health Organization). We review several aspects of the o
Autor:
Michela Biancolella, Vito Luigi Colona, Ruty Mehrian-Shai, Jessica Lee Watt, Lucio Luzzatto, Giuseppe Novelli, Juergen K. V. Reichardt
Publikováno v:
Human genomics. 16(1)
COVID-19, which is caused by the SARS-CoV-2, has ravaged the world for the past 2 years. Here, we review the current state of research into the disease with focus on its history, human genetics and genomics and the transition from the pandemic to the
Autor:
Ann Nordgren, Stephanie Broley, Mengchun Gong, James Chipeta, Zhang Shuyang, Durhane Wong-Rieger, Stephen C. Groft, Benjamin Djoudalbaye, Kristen J. Nowak, Maja Stojiljkovic, Kenjiro Kosaki, William A. Gahl, Safiyya D. Gassman, Maximilian Muenke, Sarah Bowdin, Emily P. Coles, David R. Adams, Judit Kumuthini, Manuel Posada, Tebogo Selebatso, Christopher P. Austin, Annika Larsson, Moses Selebatso, Eda Selebatso, Ruty Mehrian-Shai, Ratna D. Puri, Helene Cederroth, Christoffer Nellåker, Barbara Wuebbels, Gareth Baynam, Virginia A. Llera, Domenica Taruscio, Simon Easteal, Juergen K. V. Reichardt, Nicholas Pachter, Sergi Beltran, Maryke Schoonen, Dipesalema Joel, Feng Zhang, Francois H. van der Westhuizen, Barend Christiaan Vorster, Kelly du Plessis, Désirée Gavhed, Kym M. Boycott, Emilio J. A. Roldán, Petra Kaufmann, John Forman, Gemma A. Bilkey, Boikobo Gaobinelwe, Clara D.M. van Karnebeek
Publikováno v:
Nature genetics, 52(1), 21-26. Nature Publishing Group
The 11th International Conference on Rare Diseases and Orphan Drugs (ICORD), South Africa, included the Africa-Rare initiative launch and facilitated multi-stakeholder engagement in the challenges facing, and opportunities for, Africans living with r
Autor:
Nitzan Cal, Gal Goldstein, Tamar Fisher, Ruty Mehrian-Shai, Ortal Barel, Moshe Leitner, Victoria Marcu, Bella Bielorai, Michal Yalon, Amos Toren, Hana Golan, Ginette Schiby, Luba Trakhtenbrot
Publikováno v:
Acta Haematologica. 141:119-127
Background: The WHO defined myeloid and lymphoid neoplasms (MLN) with eosinophilia associated with PDGFRB, PDGFRA, FGFR1 rearrangements as a new entity in 2016. PDGFRB-rearranged MLN sensitive to imatinib were described in adult patients. We report t
Autor:
Krystal J. Godri Pollitt, Michela Biancolella, Jessica Watt, Ruty Mehrian-Shai, Giuseppe Novelli, Vasilis Vasiliou, Juergen K. V. Reichardt, Caroline Erickson
Publikováno v:
Human Genomics, Vol 14, Iss 1, Pp 1-9 (2020)
Human Genomics
Human Genomics
The COVID-19 pandemic is sweeping the world and will feature prominently in all our lives for months and most likely for years to come. We review here the current state 6 months into the declared pandemic. Specifically, we examine the role of the pat
Autor:
Ruty Mehrian-Shai
Publikováno v:
Human Genomics
Human Genomics, Vol 14, Iss 1, Pp 1-4 (2020)
Human Genomics, Vol 14, Iss 1, Pp 1-4 (2020)
It is crucial to use the wealth of information emerging from the ongoing SARS-CoV-2 pandemic and confront COVID-19 with a rational approach. There are proactive steps to prevent and fight COVID-19. Management of the disease should be according to cli