Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues.
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DOI：
10.1002/ajmg.a.36793
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发表时间：
2015-01
影响因子：
2
通讯作者：
Upadhyaya, Meena
中科院分区：
文献类型：
--
作者：
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;Viskochi, David H.;Zenker, Martin;Upadhyaya, Meena
关键词：
1型神经纤维瘤病是第一个ras病，现在是由编码Ras/丝裂原活化蛋白激酶（MAPK）通路成分的基因的种系突变引起的许多ras病之一。他们共同的潜在病理病因导致显着的表型特征重叠，包括颅面畸形、心脏、皮肤、肌肉骨骼、胃肠道和眼部异常，以及易患癌症。“神经纤维瘤病和RASopathies的最新进展：管理、诊断以及当前和未来的治疗途径”研讨会记录了这次及时和局部的临床转化研究研讨会。会议的首要目标是将临床医生、基础科学家、内科科学家、倡导领袖、学员、学生和Ras通路综合征患者聚集在一起，讨论最先进的基础科学和临床问题，努力激发针对Ras病变患者的最佳实践和治疗的合作。
Neurofibromatosis type 1 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 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.