Modeling Disease

Anderson DM, Van de Plas R, Rose KL, Hill S, Schey KL, Solga AC, Gutmann DH, Caprioli RM. 3-D imaging mass spectrometry of protein distributions in mouse Neurofibromatosis 1 (NF1)-associated optic glioma. J Proteomics. 2016 Feb 12. pii: S1874-3919(16)30027-6. doi: 10.1016/j.jprot.2016.02.004. [Epub ahead of print]

Morris SM, Gutmann DH. A genotype-phenotype correlation for quantitative autistic trait burden in neurofibromatosis 1. Neurology. 2018 Jan 24. pii: 10.1212/WNL.0000000000005000. doi: 10.1212/WNL.0000000000005000. PMID: 29367450.

Maloney SE, Chandler KC, Anastasaki C, Rieger MA, Gutmann DH, Dougherty JD. Characterization of early communicative behavior in mouse models of neurofibromatosis type 1. Autism Res. 2017 Aug 26. doi: 10.1002/aur.1853. [Epub ahead of print] PubMed PMID: 28842941.

Toonen JA, Ma Y, Gutmann DH. Defining the temporal course of murine neurofibromatosis-1 optic gliomagenesis reveals a therapeutic window to attenuate retinal dysfunction. Neuro Oncol. 2017 Jun 1;19(6):808-819. doi: 10.1093/neuonc/now267. PubMed PMID: 28039362; PubMed Central PMCID: PMC5464459.

Isakson SH, Rizzardi AE, Coutts AW, Carlson DF, Kirstein MN, Fisher J, Vitte J, Williams KB, Pluhar GE, Dahiya S, Widemann BC, Dombi E, Rizvi T, Ratner N, Messiaen L, Stemmer-Rachamimov AO, Fahrenkrug SC, Gutmann DH, Giovannini M, Moertel CL, Largaespada DA, Watson AL. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. Commun Biol. 2018 Oct 2;1:158. doi: 10.1038/s42003-018-0163-y. eCollection 2018.

Anastasaki C, Wegscheid ML, Hartigan K, Papke JB, Kopp ND, Chen J, Cobb O, Dougherty JD, Gutmann DH. Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations. Stem Cell Reports. 2020 Apr 14;14(4):541-550. doi: 10.1016/j.stemcr.2020.03.007. Epub 2020 Apr 2. PMID: 32243842; PMCID: PMC7160375. *co-first authors

Wegscheid ML, Anastasaki C, Gutmann DH. Human stem cell modeling in neurofibromatosis type 1 (NF1). Exp Neurol. 2017 Apr 6. pii: S0014-4886(17)30094-8. doi: 10.1016/j.expneurol.2017.04.001. [Epub ahead of print] Review. PubMed PMID: 28392281; PubMed Central PMCID: PMC5630478.

Mo J, Anastasaki C, Chen Z, Shipman T, Papke J, Yin K, Gutmann DH, Le LQ. Humanized neurofibroma model from induced pluripotent stem cells delineates tumor pathogenesis and developmental origins. J Clin Invest. 2021 Jan 4;131(1):e139807. doi: 10.1172/JCI139807. PMID: 33108355; PMCID: PMC7773354.

Freret ME, Gutmann DH. Insights into optic pathway glioma vision loss from mouse models of neurofibromatosis type 1. J Neurosci Res. 2018 Apr 28. doi: 10.1002/jnr.24250. [Epub ahead of print]

Wright-Jin EC, Gutmann DH. Microglia as dynamic cellular mediators of brain function. Trends in Molecular Medicine 25:967-979, 2019. PMID: 31597593

Anastasaki C, Rensing N, Johnson KJ, Wong M, Gutmann DH. Neurofibromatosis type 1 (Nf1)-mutant mice exhibit increased sleep fragmentation. J Sleep Res. 2019 Aug;28(4):e12816. doi: 10.1111/jsr.12816. Epub 2019 Jan 4. PMID: 30609083; PMCID: PMC6609510.

Wegscheid ML, Anastasaki C, Hartigan KA, Cobb OM, Papke JB, Traber JN, Morris SM, Gutmann DH. Patient-derived iPSC-cerebral organoid modeling of the 17a11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis. Cell Rep 2021; July 6 36:109315. doi: 10.1016/j.celrep.2021.109315 PMID:34233200.

Rahn RM, Weichselbaum CT, Gutmann DH, Dougherty JD, Maloney SE. Shared developmental gait disruptions across two mouse models of neurodevelopmental disorders. J Neurodev Disord. 2021 Mar 20;13(1):10. doi: 10.1186/s11689-021-09359-0. PMID: 33743598; PMCID: PMC7980331.

Hirbe AC, Dahiya S, Friedmann-Morvinski D, Verma IM, Clapp DW, Gutmann DH. Spatially- and temporally-controlled postnatal p53 knockdown cooperates with embryonic Schwann cell precursor Nf1 gene loss to promote malignant peripheral nerve sheath tumor formation. Oncotarget. 2016 Feb 7. doi: 10.18632/oncotarget.7232. [Epub ahead of print]

Brossier NM, Thondapu S, Cobb OM, Dahiya S, Gutmann DH. Temporal, spatial, and genetic constraints contribute to the patterning and penetrance of murine neurofibromatosis-1 optic glioma. Neuro Oncol. 2021 Apr 12;23(4):625-637. doi: 10.1093/neuonc/noaa237. PMID: 33080011; PMCID: PMC8041339.

Solga AC, Toonen JA, Pan Y, Cimino PJ, Ma Y, Castillon GA, Gianino SM, Ellisman MH, Lee DY, Gutmann DH. The cell of origin dictates the temporal course of neurofibromatosis-1 (Nf1) low grade glioma formation. Oncotarget. 2017 Jul 18;8(29):47206-47215. doi: 10.18632/oncotarget.17589. PubMed PMID: 28525381; PubMed Central PMCID: PMC5564557.

Anastasaki C, Le LQ, Kesterson RA, Gutmann DH. Updated nomenclature for human and mouse neurofibromatosis type 1 genes. Neurol Genet.  2017 Jul 26;3(4):e169. doi: 10.1212/NXG.0000000000000169. eCollection 2017 Aug. PMID:28804759.

Durón C, Pan Y, Gutmann DH, Hardin J, Radunskaya A. Variability of Betweenness Centrality and Its Effect on Identifying Essential Genes. Bull Math Biol. 2019 Sep;81(9):3655-3673. doi: 10.1007/s11538-018-0526-z. Epub 2018 Oct 22. PMID: 30350013; PMCID: PMC6476710.