Home LiteratureArticle Details
PMID: 28392281 Published · ppublish English Journal Article Review Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Human stem cell modeling in neurofibromatosis type 1 (NF1).

Experimental neurology ·Vol. 299 ·No. Pt B ·2018-00-00 ·页码 270-280

Wegscheid ML, Anastasaki C, Gutmann DH

Abstract

The future of precision medicine is heavily reliant on the use of human tissues to identify the key determinants that account for differences between individuals with the same disorder. This need is exemplified by the neurofibromatosis type 1 (NF1) neurogenetic condition. As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors. Coupled with accurate preclinical mouse models, the availability of NF1 patient-derived induced pluripotent stem cells (iPSCs) provides new opportunities to define the critical factors that underlie NF1-associated nervous system disease pathogenesis and progression. In this review, we discuss the generation and potential applications of iPSC technology to the study of NF1.

Keywords
Microglia NF1 Neurodevelopment Neurofibroma Optic pathway glioma Retinal ganglion cell Stem cell Tumor iPSC
MeSH 主题词
Animals Biological Variation, Individual Brain/growth & development Brain Neoplasms/etiology,therapy Cellular Reprogramming Techniques/methods Disease Models, Animal Drug Screening Assays, Antitumor Forecasting Genes, Neurofibromatosis 1 Germ-Line Mutation Humans Induced Pluripotent Stem Cells/physiology Mice Mice, Knockout Models, Neurological Nerve Regeneration Nerve Sheath Neoplasms/etiology,pathology,therapy Neurodevelopmental Disorders/etiology,pathology,therapy Neurofibroma/etiology,pathology,therapy Neurofibromatosis 1/complications,genetics,physiopathology Neurofibromin 1/deficiency Optic Nerve Glioma/genetics,pathology,therapy Organoids Precision Medicine/methods,trends
化学物质
Neurofibromin 1
作者与单位
共 3 位作者,点击展开单位 / ORCID
Wegscheid Michelle L
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States.
Anastasaki Corina
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States.
Gutmann David H
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, United States. Electronic address: gutmannd@wustl.edu.
Article Info
Journal
Experimental neurology
Abbr.
Exp Neurol
ISSN
1090-2430
Corresponding email
Published
2018-00-00
电子出版
2017-00-06
页码
270-280
Language
English
Country/Region
United States
NLM ID
0370712
基金资助
NINDS NIH HHS · R35 NS097211 · United States
NIAID NIH HHS · T32 AI007172 · United States
NIGMS NIH HHS · T32 GM007200 · United States
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com