The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery
| العنوان: | The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery |
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| المؤلفون: | Maria I. Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E. Axelrad, Annette Bakker, Anton M. Bennett, Alberto Broniscer, Pau Castel, Caitlin A. Chang, Lukas Cyganek, Tirtha K. Das, Jeroen Hertog, Emilia Galperin, Shruti Garg, Bruce D. Gelb, Kristiana Gordon, Tamar Green, Karen W. Gripp, Maxim Itkin, Maija Kiuru, Bruce R. Korf, Jeff R. Livingstone, Alejandro López‐Juárez, Pilar L. Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I. Pierpont, Kevin Plouffe, Katherine A. Rauen, Suma P. Shankar, Shane B. Smith, David A. Stevenson, Marco Tartaglia, Richard Van, Morgan E. Wagner, Stephanie M. Ware, Martin Zenker |
| المساهمون: | Hubrecht Institute for Developmental Biology and Stem Cell Research |
| المصدر: | American journal of medical genetics. Part A, vol 188, iss 6 Kontaridis, M I, Roberts, A E, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, M E, Bakker, A, Bennett, A M, Broniscer, A, Castel, P, Chang, C A, Cyganek, L, Das, T K, den Hertog, J, Galperin, E, Garg, S, Gelb, B D, Gordon, K, Green, T, Gripp, K W, Itkin, M, Kiuru, M, Korf, B R, Livingstone, J R, López-Juárez, A, Magoulas, P L, Mansour, S, Milner, T, Parker, E, Pierpont, E I, Plouffe, K, Rauen, K A, Shankar, S P, Smith, S B, Stevenson, D A, Tartaglia, M, Van, R, Wagner, M E, Ware, S M & Zenker, M 2022, ' The seventh international RASopathies symposium : Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62716Test American Journal of Medical Genetics, Part A, 188(6), 1915-1927. Wiley-Liss Inc. |
| بيانات النشر: | eScholarship, University of California, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Pediatric, neurofibromatosis, ras Proteins/genetics, Noonan Syndrome, Costello Syndrome, Clinical Sciences, cardiofaciocutaneus syndrome, Costello Syndrome/genetics, RASopathy, Good Health and Well Being, Noonan Syndrome/genetics, ras Proteins, Genetics, Humans, 2.1 Biological and endogenous factors, Mitogen-Activated Protein Kinases, Aetiology, Mitogen-Activated Protein Kinases/metabolism, signaling, Genetics (clinical), Signal Transduction |
| الوصف: | RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic anomalies, little movement has been made in translating these findings to the clinic. This year, the seventh International RASopathies Symposium focused on expanding the research knowledge that we have gained over the years to enhance new discoveries in the field, ones that we hope can lead to effective therapeutic treatments. Indeed, for the first time, research efforts are finally being translated to the clinic, with compassionate use of Ras/MAPK pathway inhibitors for the treatment of RASopathies. This biannual meeting, organized by the RASopathies Network, brought together basic scientists, clinicians, clinician scientists, patients, advocates, and their families, as well as representatives from pharmaceutical companies and the National Institutes of Health. A history of RASopathy gene discovery, identification of new disease genes, and the latest research, both at the bench and in the clinic, were discussed. |
| وصف الملف: | application/pdf |
| تدمد: | 1552-4825 1552-4833 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66770a599b697c0d77d007bd425f8e74Test https://escholarship.org/uc/item/44s997fhTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....66770a599b697c0d77d007bd425f8e74 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524825 15524833 |
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