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PMID: 21271647 Published · ppublish English Congress Research Support, N.I.H., Extramural

Back to the future: proceedings from the 2010 NF Conference.

American journal of medical genetics. Part A ·Vol. 155A ·No. 2 ·2011-02-00 ·页码 307-21

Huson SM, Acosta MT, Belzberg AJ, Bernards A, Chernoff J, Cichowski K, Gareth Evans D, Ferner RE, Giovannini M, Korf BR, Listernick R, North KN, Packer RJ, Parada LF, Peltonen J, Ramesh V, Reilly KM, Risner JW, Schorry EK, Upadhyaya M, Viskochil DH, Zhu Y, Hunter-Schaedle K, Giancotti FG

Abstract

The neurofibromatoses (NF) encompass the rare diseases NF1, NF2, and schwannomatosis. The NFs affect 100,000 Americans; over 2 million persons worldwide; and are caused by mutation of tumor suppressor genes. Individuals with NF1 in particular may develop tumors anywhere in the nervous system; additional manifestations can include learning disabilities, bone dysplasia, cardiovascular defects, unmanageable pain, and physical disfigurement. Ultimately, the NFs can cause blindness, deafness, severe morbidity, and increased mortality and NF1 includes a risk of malignant cancer. Today there is no treatment for the NFs (other than symptomatic); however, research efforts to understand these genetic conditions have made tremendous strides in the past few years. Progress is being made on all fronts, from discovery studies-understanding the molecular signaling deficits that cause the manifestations of NF-to the growth of preclinical drug screening initiatives and the emergence of a number of clinical trials. An important element in fuelling this progress is the sharing of knowledge, and to this end, for over 20 years the Children's Tumor Foundation has convened an annual NF Conference, bringing together NF professionals to share ideas and build collaborations. The 2010 NF Conference held in Baltimore, MD June 5-8, 2010 hosted over 300 NF researchers and clinicians. This paper provides a synthesis of the highlights presented at the Conference and as such, is a "state-of-the-field" for NF research in 2010.

MeSH 主题词
Animals Disease Models, Animal Genes, Tumor Suppressor Genes, ras/genetics Humans Mitogen-Activated Protein Kinases/genetics,metabolism Neurofibromatoses/diagnosis,drug therapy,genetics,pathology Signal Transduction/physiology
化学物质
Mitogen-Activated Protein Kinases
作者与单位
共 24 位作者,点击展开单位 / ORCID
Huson Susan M
St. Mary's Hospital, University of Manchester, Manchester, UK.
Acosta Maria T
Belzberg Allan J
Bernards Andre
Chernoff Jonathan
Cichowski Karen
Gareth Evans D
Ferner Rosalie E
Giovannini Marco
Korf Bruce R
Listernick Robert
North Kathryn N
Packer Roger J
Parada Luis F
Peltonen Juha
Ramesh Vijaya
Reilly Karlyne M
Risner John W
Schorry Elizabeth K
Upadhyaya Meena
Viskochil David H
Zhu Yuan
Hunter-Schaedle Kim
Giancotti Filippo G
Article Info
Journal
American journal of medical genetics. Part A
Abbr.
Am J Med Genet A
ISSN
1552-4833
Published
2011-02-00
电子出版
2010-00-22
页码
307-21
Language
English
Country/Region
United States
NLM ID
101235741
基金资助
NINDS NIH HHS · R13 NS070505-01 · United States
NIGMS NIH HHS · R01 GM084220-02 · United States
NIGMS NIH HHS · R01 GM084220-03 · United States
NINDS NIH HHS · 1R13NS070505-01 · United States
NINDS NIH HHS · R13 NS070505 · United States
NCI NIH HHS · R01 CA152975-01A1 · United States
NCI NIH HHS · R01 CA152975-02 · United States
NIGMS NIH HHS · R01 GM084220-04 · United States
NCI NIH HHS · R01 CA152975 · United States
NIGMS NIH HHS · R01 GM084220-01A1 · United States
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