Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation
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Article Information
- Received January 21, 2021
- Accepted in final form February 23, 2021
- First Published March 26, 2021.
Author Disclosures
- Erika Ramirez, BSN,
- Stephanie M. Morris, MD,
- Tychele N. Turner, PhD and
- David H. Gutmann, MD, PhD (erikaramirez{at}wustl.edu)
- Erika Ramirez, BSN,
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- Stephanie M. Morris, MD,
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Springworks Therapeutics - consultant
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1) NIH, 5K12NS00169017, trainee, 2015-2018
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- Tychele N. Turner, PhD and
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Genome Research, Editorial Board, less than 1 year
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- David H. Gutmann, MD, PhD (erikaramirez{at}wustl.edu)
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Glia Neuro-Oncology
NF1 Gene, 1999. Identification of the NF1 gene and protein. mTOR, 2012. Identification of NF1 protein as mTOR regulator.
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PI, NCI, R01, Defining risk factors for NF1-optic glioma, 2016-2021 PI, NIH, Defining the mechanistic basis for neurofibromatosis-1 nervous system disease heterogeneity. 2016-2024.
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PD, The Giorgio Foundation, NF1-Dermal Neurofibroma Consortium, 2016-2021 PI, Neurofibromatosis Therapeutic Acceleration Program, Leveraging human iPSCs to determine the impact of patient-derived NF1 gene mutations on peripheral sensory neuron-driven Schwann cell growth, 2018-2021 PI, Gilbert Family Foundation, Vision Restoration Initiative, 2019-2022 PI, PLGA, Human iPSC PLGA Models for Therapeutic Drug Discovery and Evaluation, 2020-2022 PI, Ian's Friends Foundation, Overcoming human tumor xenograft rejection for preclinical modeling of pediatric low-grade astrocytomas (PLGAs), 2021
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TSC knockout (GFAP-Cre) mouse (Tuberous Sclerosis Alliance)
NF1 gene patent, University of Michigan, 2000 to 2015
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- From the Department of Neurology (E.R., S.M.M., D.H.G.) and Department of Genetics (T.N.T.), Washington University School of Medicine, St. Louis, MO.
- Correspondence
Dr. Gutmann gutmannd{at}wustl.edu
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