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