4.2 Article

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect

期刊

AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 176, 期 12, 页码 2924-2929

出版社

WILEY
DOI: 10.1002/ajmg.a.40632

关键词

cardio-facio-cutaneous syndrome; clinical trial; Costello syndrome; Legius syndrome; neurofibromatosis type 1; Noonan syndrome; RAS/MAPK; RASopathies; signal transduction pathway; therapy

资金

  1. International Costello Syndrome Support Group
  2. March of Dimes Foundation [4-FY17-900]
  3. National Institutes of Health (NIH) [1R13CA217038-01]
  4. Onconova Therapeutics, Inc.
  5. PreventionGenetics
  6. University of Alabama at Birmingham, School of Medicine, Department of Genetics
  7. Paul Allen Foundation Distinguished Investigator Program
  8. NIH/National Eye Institute (NEI) [P30EY002162]
  9. Penn Medicine Orphan Disease Center Million Dollar Bike Ride (MDBR)
  10. NIH/National Cancer Institute (NCI) [R21CA191392]
  11. NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) [R01AR062165]
  12. NIH/NCI Outstanding Investigator Award [5R35CA197709]
  13. NIH/NCI [R01CA131261, R01CA176839, U01CA202241]
  14. NIH/NHLBI [R35HL135742]
  15. We Work for Health
  16. Noonan Syndrome Foundation
  17. CFC International
  18. Costello Syndrome Family Network
  19. Prevention Genetics
  20. GeneDx
  21. Children's Tumor Foundation
  22. EveryLife Foundation for Rare Diseases
  23. Onconova Therapeutics Inc
  24. Pharmaceutical Research and Manufacturers of America (PhRMA)
  25. [MDBR-17-128-RASopathies]

向作者/读者索取更多资源

This report summarizes and highlights the fifth International RASopathies Symposium: When Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies comprise a recognizable pattern of malformation syndromes that are caused by germ line mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. Because of their common underlying pathogenetic etiology, there is significant overlap in their phenotypic features, which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, gastrointestinal and ocular abnormalities, neurological and neurocognitive issues, and a predisposition to cancer. The RAS pathway is a well-known oncogenic pathway that is commonly found to be activated in somatic malignancies. As in somatic cancers, the RASopathies can be caused by various pathogenetic mechanisms that ultimately impact or alter the normal function and regulation of the MAPK pathway. As such, the RASopathies represent an excellent model of study to explore the intersection of the effects of dysregulation and its consequence in both development and oncogenesis.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.2
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据