First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics
| العنوان: | First international conference on RASopathies and neurofibromatoses in Asia : identification and advances of new therapeutics |
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| المؤلفون: | Vijaya Ramesh, D. Gareth Evans, Susan M Huson, Jaishri O. Blakeley, Joshi George, Ludwine Messiaen, Ype Elgersma, Rick van Minkelen, Pierre Wolkenstein, Eric Legius, Meena Upadhyaya, Shay Ben-Shachar, Anup Raji, Bruce R. Korf, Ratna Dua Puri, Katherine A. Rauen, Luis F. Parada, Miikka Vikkula, Brigitte C. Widemann, Shubha R. Phadke, Sheetal Sharda, Sheela Nampoothiri, Michael Fisher, Isabel Cordeiro, Abeer Al-Saegh, Ashok Pillai, Ian M. Frayling, Suma P. Shankar, Nancy Ratner, Scott R. Plotkin, Yemima Berman, Anant Tambe, Uday Khire, Bronwyn Kerr, Joanne Ngeow |
| المساهمون: | Lee Kong Chian School of Medicine (LKCMedicine), First International Conference on RASopathies and Neurofibromatoses in Asia, Neurosciences |
| المصدر: | Am J Med Genet A American journal of medical genetics. Part A, vol 179, iss 6 American Journal of Medical Genetics Part A, 179(6), 1091-1097. Wiley-Liss Inc. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | 0301 basic medicine, medicine.medical_specialty, Biomedical, Neurofibromatoses, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, 030105 genetics & heredity, RASopathy, Article, Neurofibromatosis, 03 medical and health sciences, Congenital, Rare Diseases, Costello syndrome, Translational Research, medicine, Genetics, Humans, Genetic Predisposition to Disease, Medicine [Science], Molecular Targeted Therapy, Schwannomatosis, Genetics (clinical), Genetic Association Studies, Legius syndrome, Pediatric, therapy, business.industry, Neurosciences, Disease Management, signal transduction pathway, medicine.disease, Dermatology, Clinical Trial, Brain Disorders, 030104 developmental biology, Molecular Diagnostic Techniques, ras Proteins, Noonan syndrome, Mitogen-Activated Protein Kinases, business, Noonan Syndrome with Multiple Lentigines, Biomarkers, Signal Transduction |
| الوصف: | The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies. Children's Tumor Foundation; Fonds De La Recherche Scientifique ‐ FNRS, Grant/Award Numbers: T002614, T024719F; Manchester NIHR Biomedical Research Centre, Grant/Award Number: IS‐BRC‐1215‐20007; NIH/NIAMS, Grant/Award Number: R01AR062165; Axis Health Biomedicals and the Doctor's Academy; Schiller India; MedGenome; Wales Gene Park; University of Wales Trinity Saint David; Cardiff University; AstraZeneca |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1552-4825 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b92e8255ccfd40c5e7307015d64fc8 https://hdl.handle.net/10356/146949 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....24b92e8255ccfd40c5e7307015d64fc8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524825 |
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