The sixth international RASopathies symposium : Precision medicine—From promise to practice
| العنوان: | The sixth international RASopathies symposium : Precision medicine—From promise to practice |
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| المؤلفون: | Maja Solman, Angie C. Jelin, Annie Kennedy, Alan L. Ho, Shin Ichi Inoue, Nancy Ratner, Susan Blaser, Emma Burkitt-Wright, Karin S. Walsh, Darryl B. McConnell, Michelle Ellis, Angelica Thomas, Gregg Erickson, Rebecca D. Burdine, Pau Castel, Gavin Rumbaugh, Beth Stronach, Richard J. T. Klein, Pablo Rodriguez-Viciana, Sandra Darilek, Bruce D. Gelb, Pilar L. Magoulas, Martin Zenker, Pamela L. Wolters, Amanda Brown, Tuesdi Dyer, James Lloyd Holder, Anna Sablina, Karen W. Gripp, Alwyn Dias, Lisa Schill, Kartik Venkatachalam, Lisa Schoyer, Marco Tartaglia, Amy E. Roberts, Neal Rosen, Tamar Green, Anton M. Bennett, William Timmer, Katherine A. Rauen, Frank McCormick, Andrea M. Gross, Maria I. Kontaridis, Jae Sung Yi, Carlos E. Prada, Benjamin G. Neel |
| المصدر: | American journal of medical genetics. Part A, vol 182, iss 3 Am J Med Genet A American Journal of Medical Genetics, Part A, 182(3), 597. Wiley-Liss Inc. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, MISSENSE MUTATIONS, 030105 genetics & heredity, Gene mutation, SYNDROME REVEALS, Patient advocacy, ACTIVATION, MYELIN STRUCTURE, Medicine, Noonan syndrome, Genetics(clinical), Genetics (clinical), Genetics & Heredity, HYPERTROPHIC CARDIOMYOPATHY, MOUSE MODEL, Medical research, Costello syndrome, PPP1CB, kinases, Drug development, Genetic Diseases, REPORTED OUTCOME MEASURES, Life Sciences & Biomedicine, Signal Transduction, medicine.medical_specialty, Clinical Sciences, NOONAN-SYNDROME, Context (language use), RASopathy, Article, cardio-facio-cutaneous syndrome, 03 medical and health sciences, Rare Diseases, Genetics, Humans, Intensive care medicine, Germ-Line Mutation, Mitogen-Activated Protein Kinase Kinases, Science & Technology, neurofibromatosis, business.industry, Precision medicine, medicine.disease, 030104 developmental biology, Inborn, Good Health and Well Being, ras Proteins, Personalized medicine, business |
| الوصف: | The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS-mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manifestations affecting numerous organ systems, causing lifelong and at times life-limiting medical complications. RASopathies may benefit from precision medicine approaches. For this reason, the Sixth International RASopathies Symposium focused on exploring precision medicine. This meeting brought together basic science researchers, clinicians, clinician scientists, patient advocates, and representatives from pharmaceutical companies and the National Institutes of Health. Novel RASopathy genes, variants, and animal models were discussed in the context of medication trials and drug development. Attempts to define and measure meaningful endpoints for treatment trials were discussed, as was drug availability to patients after trial completion. ispartof: AMERICAN JOURNAL OF MEDICAL GENETICS PART A vol:182 issue:3 pages:597-606 ispartof: location:United States status: published |
| وصف الملف: | application/pdf; image/pdf; Print-Electronic; text/plain |
| اللغة: | English |
| تدمد: | 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e4047f8a0f8a59aa9ba21ad0430336Test https://doi.org/10.1002/ajmg.a.61434Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....83e4047f8a0f8a59aa9ba21ad0430336 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524825 |
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