American journal of medical genetics. Part A · 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Conference ProceedingsПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Rauen Katherine A, Huson Susan M, Burkitt-Wright Emma, Evans D Gareth, Farschtschi Said, Ferner Rosalie E, Gutmann David H, Hanemann C Oliver, Kerr Bronwyn, Legius Eric, Parada Luis F, Patton Michael, Peltonen Juha, Ratner Nancy, Riccardi Vincent M, van der Vaart Thijs, Vikkula Miikka, Viskochil David H, Zenker Martin, Upadhyaya Meena
Аннотация
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.