Recent MD/PhD Student & Alumni Publications

Samuel J. Mackenzie et al. Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell seeded collagen foam. Muscle Nerve [57(1):E78-E84, 2018.

Rebecca A. Sager et al. Detecting Posttranslational Modifications of Hsp90. External IconMethods Mol Biol. 1709:209-219, 2018.

Dawn B. Lammert et al. The de novo Autism Spectrum Disorder RELN R2290C Mutation Reduces Reelin Secretion and Increases Protein Disulfide Isomerase Expression. External Icon  J Neurochem. [Epub ahead of print]

Karen I. Cyndari et al. Peri-Implant Distribution of Polyethylene Debris in Postmortem-Retrieved Knee Arthroplasties: Can Polyethylene Debris Explain Loss of Cement-Bone Interlock in Successful Total Knee Arthroplasties? External Icon  J Arthroplasty [Epub ahead of print]

Petya D. Radoeva et al. Longitudinal study of cerebral surface morphology in youth with 22q11.2 deletion syndrome, and association with positive symptoms of psychosis. External Icon  J Child Psychol Psychiatry 58(3):305-314, 2017. 

Daniel S. Tylee et al. Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined-samples mega-analysis. External Icon  Am J Med Genet B Neuropsychiatr Genet 174(3):181-201, 2017.

Christopher M. Bartlow et al. PTH(1-34) and zoledronic acid have differing longitudinal effects on juvenile mouse femur strength and morphology. External Icon J Orthop Res. 35(8):1707-1715, 2017.

Liam P. Coyne and X.J. Chen. mPOS is a novel mitochondrial trigger of cell death - implications for neurodegeneration External Icon. FEBS Lett. [Epub ahead of print]

Ivayla I Geneva et al. Untangling ciliary access and enrichment of two rhodopsin-like receptors using quantitative fluorescence microscopy reveals cell-specific sorting pathways. External Icon Mol Biol Cell 15;28(4):554-566, 2017.

Matthew Gumbleton et al. Dual enhancement of T and NK cell function by pulsatile inhibition of SHIP1 improves antitumor immunity and survival External Icon. Sci Signal. Oct 10;10(500), 2017

Scott B. Minchenberg and Paul T. Massa. The control of oligodendrocyte bioenergetics by interferon-gamma (IFN-γ) and Src homology region 2 domain-containing phosphatase-1 (SHP-1). External Icon J Neuroimmunol. [Epub ahead of print]

Rebecca Sager et al. Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients External Icon. EMBO J. 36(24):3650-3665, 2017.

Daniel S. Tylee et al. Machine-learning classification of 22q11.2 deletion syndrome: A diffusion tensor imaging study.  External Icon Neuroimage Clin 15:832-842, 2017.

Eric M. Wohlford et al.  Changes in tonsil B cell phenotypes and EBV receptor expression in children under 5 years old.  External IconCytometry B Clin Cytom. [Epub ahead of print]

Jameson Patak, Yanli Zhang-James, Stephen V. Faraone. “Endosomal System Genetics and Autism Spectrum Disorders: A Literature Review.” Neuroscience & Biobehavioral Reviews 2016. doi:10.1016/j.neubiorev.2016.03.022

Petya D. Radoeva et al. Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis. Dev Psychopathol. 2016 [Epub ahead of print]

Patak J, Hess JL, Zhang-James Y, Glatt SJ, Faraone SV. SLC9A9 Co-expression modules in autism-associated brain regions. Autism Res. 2016. 10.1002/aur.1670

Adam Blanden et al. Corrigendum to "Reactivating mutant p53 using small molecules as zinc metallochaperones: awakening a sleeping giant in cancer." External Icon Drug Discov Today [Epub ahead of print]

Dawn B. Lammert and B.W. Howell. RELN Mutations in Autism Spectrum Disorder. External Icon Front Cell Neurosci. 10:84 (2016).

Zachary Oaks et al. Mitochondrial dysfunction in the liver and antiphospholipid antibody production precede disease onset and respond to rapamycin in lupus-prone mice External Icon . Arthritis Rheumatol. 2016 [Epub ahead of print]

Daniel Tylee et al. RNA sequencing of transformed lymphoblastoid cells from siblings discordant for autism spectrum disorders reveals transcriptomic and functional alterations: Evidence for sex-specific effects. External Icon  Autism Res. [Epub ahead of print]

Christopher M. Bartlow et al.. PTH(1-34) and zoledronic acid have differing longitudinal effects on juvenile mouse femur strength and morphology. External Icon  J Orthop Res. [Epub ahead of print]

Gruber, R. C., LaRocca, D., Minchenberg, S. B., Christophi, G. P., Hudson, C. A., Ray, A. K., … Massa, P. T. (2015). The control of reactive oxygen species production by SHP-1 in oligodendrocytes. Glia63(10), 1753–1771. External Icon

Oaks, Z., Winans, T., Huang, N. et al. Curr Rheumatol Rep (2016) 18: 73. doi:10.1007/s11926-016-0622-8

Woodford, M. R., Dunn, D. M., Blanden, A. R., Capriotti, D., Loiselle, D., Prodromou, C., … Mollapour, M. (2016). The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding. Nature Communications7, 12037. External Icon 

Huang, N., Lou, M., Liu, H., Avila, C. & Ma, Y. Identification of a potent small molecule capable of regulating polyploidization, megakaryocyte maturation, and platelet production. J Hematol Oncol 9, 136, doi:10.1186/s13045-016-0358-y (2016).

Oaks, Z., Winans, T., Huang, N., Banki, K. & Perl, A. Activation of the Mechanistic Target of Rapamycin in SLE: Explosion of Evidence in the Last Five Years. Curr Rheumatol Rep 18, 73, doi:10.1007/s11926-016-0622-8 (2016).

Adam Blanden et al. Reactivating mutant p53 using small molecules as zinc metallochaperones: awakening a sleeping giant in cancer.   Drug Discov Today 30(11):1391-7 (2015).

Darin Dolezal et al. Fly LMBR1/LIMR-type protein Lilipod promotes germ-line stem cell self-renewal by enhancing BMP signaling. Proc Natl Acad Sci U S A 112(45)13928-33 (2015).

Matthew Gumbleton et al. SHIP1 Intrinsically Regulates NK Cell Signaling and Education, Resulting in Tolerance of an MHC Class I-Mismatched Bone Marrow Graft in Mice. J Immunol 194(6):2847-54 (2015).

Steven D Hicks et al. Exosomal microRNA expression in childhood autism spectrum disorder . Int J Dev Neurosci. 2015 Dec;47(Pt A):93.

Ryan S. O'Dell et al. Reelin Prevents Apical Neurite Retraction during Terminal Translocation and Dendrite Initiation . J Neurosci. 35(30):10659-74 (2015).

Iyer, S., Brooks, R., Gumbleton, M., & Kerr, W. G. (2015). SHIP1-Expressing Mesenchymal Stem Cells Regulate Hematopoietic Stem Cell Homeostasis and Lineage Commitment During Aging. Stem Cells and Development24(9), 1073–1081. External Icon

Fernandes, S., Brooks, R., Gumbleton, M., Park, M.-Y., Russo, C. M., Howard, K. T., … Kerr, W. G. (2015). SHIPi Enhances Autologous and Allogeneic Hematopoietic Stem Cell Transplantation. EBioMedicine2(3), 205–213. External Icon

Sowalsky, A. G., Sager, R., Schaefer, R. J., Bratslavsky, G., Pandolfi, P. P., Balk, S. P., & Kotula, L. (2015). Loss of Wave1 gene defines a subtype of lethal prostate cancer. Oncotarget6(14), 12383–12391.

Liao, W., Huang, N., Yu, J., Jares, A., Yang, J,, Zieve, G., Avila, C. Jiang, X. Zhang, X.B., Ma, Y. Direct Conversion of Cord Blood CD34+ Cells Into Neural Stem Cells by OCT4. Stem Cells Transl Med 4, 755-763, doi:10.5966/sctm.2014-0289 (2015).

Tylee, D. S., Chandler, S. D., Nievergelt, C. M., Liu, X., Pazol, J., Woelk, C. H., … Tsuang, M. T. (2015). Blood-based gene-expression biomarkers of post-traumatic stress disorder among deployed marines: A pilot study. Psychoneuroendocrinology, 51, 472–94.

Breen, M. S., Maihofer, A. X., Glatt, S. J., Tylee, D. S., Chandler, S. D., Tsuang, M. T., … Woelk, C. H. (2015). Gene networks specific for innate immunity define post-traumatic stress disorder. Molecular Psychiatry.

Oest, Megan E, Mark A Miller, Karen I Howard, and Kenneth A Mann. “A Novel in Vitro Loading System to Produce Supraphysiologic Oscillatory Fluid Shear Stress.” Journal of Biomechanics 47, no. 2 (January 22, 2014): 518–25. doi:10.1016/j.jbiomech.2013.10.036.

Yu X, Blanden AR, Narayanan S, Jayakumar L,Lubin D, Augeri D, Kimball SD, Loh SN, Carpizo DR. (2014) Small moleculerestoration of wildtype structure and function of mutant p53 using a novelzinc-metallochaperone based mechanism. Oncotarget 5(0). Available

Autism-related behavioral phenotypes in an inbred rat substrain YanliZhang-Jamesa,Li Yangc,Frank A. Middletona, Lina Yangb, Jameson Patak, Stephen V. Faraonea,b,∗Behavioural Brain Research Behavioural Brain Research 269 (2014)103–114

Christophi G, Caza T, Curtiss C, Landas S.  Gene expression profiles in granuloma tissue reveal novel diagnostic biomarkers in sarcoidosis.  Journal of experimental and molecular pathology 2014; in press.

Howard, Karen I., Mark A. Miller, Timothy A. Damron, and Kenneth A. Mann. “The Distribution of Implant Fixation for Femoral Components of TKA: A Postmortem Retrieval Study.” The Journal of Arthroplasty, April 21, 2014. doi:10.1016/j.arth.2014.04.014.

Doherty E, Oaks Z, Perl A. Increased Mitochondrial Electron Transport Chain Activity at Complex I Is Regulated by N-Acetylcysteine in Lymphocytes of Patients with Systemic Lupus Erythematosus. Antioxid Redox Signal. 2014 Mar 27.

Tiffany Caza et al. Interplay of Infections, Autoimmunity, and Immunosuppression in Systemic Lupus Erythematosus. Int Rev Immunol. [Epub ahead of print]

Adeseye Adekeye et al. Ablation of the proapoptotic genes chop or ask1 does not prevent or delay loss of visual function in a P23H transgenic mouse model of retinitis pigmentosa. PLoS One; 9(2):e83871 (2014).

Caza T, Oaks Z, Perl A. Interplay of Infections, Autoimmunity, and Immunosuppression in Systemic Lupus Erythematosus. Int Rev Immunol. 2014 Jan 28.

Talaber G, Miklossy G, Oaks Z, Liu Y, Tooze SA, Chudakov DM, Banki K, Perl A. HRES-1/Rab4 promotes the formation of LC3(+) autophagosomes and the accumulation of mitochondria during autophagy. PLoS One. 2014 Jan 3;9(1):e84392.

Tylee, D. S., Kawaguchi, D. M., & Glatt, S. J. (2013). On the outside, looking in: a review and evaluation of the comparability of blood and brain “-omes”. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics, 162B(7), 595–603. doi:10.1002/ajmg.b.32150

Glatt, S. J., Tylee, D. S., Chandler, S. D., Pazol, J., Nievergelt, C. M., Woelk, C. H., … Tsuang, M. T. (2013). Blood-based gene-expression predictors of PTSD risk and resilience among deployed marines: a pilot study. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics, 162B(4), 313–26. doi:10.1002/ajmg.b.32167

Oaks Z, Perl A. Metabolic control of the epigenome in systemic Lupus erythematosus. Autoimmunity. 2013 Oct 16.

Caza TN, Fernandez DR, Talaber G, Oaks Z, Haas M, Madaio MP, Lai ZW, Miklossy G, Singh RR, Chudakov DM, Malorni W, Middleton F, Banki K, Perl A. HRES-1/Rab4-mediated depletion of Drp1 impairs mitochondrial homeostasis and represents a target for treatment in SLE. Ann Rheum Dis. 2013 Jul 29.

Caza TN, Talaber G, Perl A. Metabolic regulation of organelle homeostasis in lupus T cells. Clinical Immunology 2012 Jul 13; 144 (3): 200-213.

Telarico T, Perl A. The role of endocytic recycling in autoimmunity. Autoimmunity: Methods and Protocols, Humana Press 2012.

Gumbleton M and Kerr WG (2013). Role of inositol phospholipid signaling in natural killer cell biology. Front. Immunol. 4:47. doi: 10.3389/fimmu.2013.00047

Ho JS*, Radoeva PD*, Jalbrzikowski M, Chow C, Hopkins J, Tran WC, Mehta A, Enrique N, Gilbert C, Antshel KM, Fremont W, Kates WR*, Bearden CE*. 2012. Deficits in Mental State Attributions in Individuals with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome). Autism Research ••: ••–••. DOI: 10.1002/aur.1252

Radoeva PD, Coman IL, Antshel KM, Fremont W, McCarthy CS, Kotkar A, Wang D, Shprintzen RJ, Kates WR. 2012. Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings. Behavioral and Brain Functions, 8(1):38.

Choi R, Engbretson G, Solessio E, Jones G, Coughlin A, Aleksic I, Zuber M. 2010. Cone degeneration following rod ablation in a reversible model of retinal degeneration. Invest Ophthalmol Vis Sci; doi:10.1167/iovs.10-5347

 Christophi GP & Massa PT. 2009. Central Neuroinvasion and Demyelination by Inflammatory Macrophages Following Peripheral Virus Infection is Controlled by SHP-1. Viral Immunology:22(6):371-87.

Christophi GP, Panos M, Hudson CA, Mihai C, Jubelt B, Massa PT. 2009 Interferon-b Treatment in Multiple Sclerosis Attenuates Inflammatory Gene Expression Through Inducible Activity of the Phosphatase SHP-1. Clinical Immunology: 133(1):27-44.

Christophi GP, Panos M, Hudson CA, Christophi RL, Gruber RC, Mersich AT, Blystone SD, Jubelt B, Massa PT. 2009. Macrophages of multiple sclerosis patients display deficient SHP-1 expression and enhanced inflammatory phenotype. Laboratory Investigation: Jul;89(7):742-59.

Christophi GP, Hudson CA, Panos M, Gruber R, Massa PT. 2009. Modulation of macrophage infiltration and inflammatory activity by the phosphatase SHP-1 in virus-induced demyelinating disease. Journal of Virology: Jan;83(2):522-39

Fernandez D, Perl A.  Metabolic Control of T cell activation and death in SLE. Autoimmun Rev. Jan;8(3):184-9, 2009.

Fernandez DR, Telarico T, Bonilla E, Li Q, Banerjee S, Middleton FA, Phillips PE, Crow MK, Oess S, Muller-Esterl W, Perl A. Activation of mammalian target of rapamycin controls the loss of TCRzeta in lupus T cells through HRES-1/Rab4-regulated lysosomal degradation. J Immunol. Feb 15;182(4):2063-73, 2009.

Fernandez D, Perl A. mTOR signaling: a central pathway to pathogenesis in systemic lupus erythematosus? Discov Med. 2010 Mar;9(46):173-8. 2010.

Perl A, Fernandez D, Telarico T, Phillips PE. Endogenous retroviral pathogenesis in lupus. Curr Opin Rheumatol. 2010 Sep;22(5):483-92.

 Nagy G, Koncz A, Telarico T, Fernandez D, Ersek B, Buzás E, Perl A. Central role of nitric oxide in the pathogenesis of rheumatoid arthritis and systemic lupus erythematosus. Arthritis Res Ther. 2010;12(3):210.

Perl A, Fernandez DR, Telarico T, Doherty E, Francis L, Phillips.  T-cell and B-cell signaling biomarkers and treatment targets in lupus. Curr Opin Rheumatol. 2009 Sep;21(5):454-64. Review.

Gerber AM, Beaman-Hall CM, Mathur A, Vallano ML.  Reduced blockade by extracellular Mg2+ is permissive to NMDA receptor activation in cerebellar granule neurons that model a migratory phenotype. J Neurochem. Jul;114(1):191-202, 2010.

Coman IL, Gnirke MH, Middleton FA, Antshel KM, Fremont W, Higgins AM, Shprintzen RJ, Kates WR. The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study. Neuroimage. 2010 Feb 1.

Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL. 2011. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. Apr 1;332(6025):65-8.

Fuhler, G.M., Brooks, R., Toms, B., Iyer, S., Gengo, E.A., Park, M.Y., Gumbleton, M., Viernes, D.R., Chisholm, J.D., and Kerr, W.G. (2012). Therapeutic potential of SH2 domain-containing inositol-5'-phosphatase 1 (SHIP1) and SHIP2 inhibition in cancer. Mol Med 18, 65-75.

Hicks S, Middleton FA, Miller MW. 2010. Ethanol-induced methylation of cell cycle genes in neural stem cells. J Neurochem., 114(6):1767-80.

Lubin DJ, Butler JS, Loh SNJ. 2010. Folding of tetrameric p53: oligomerization and tumorigenic mutations induce misfolding and loss of function. Mol Biol. 29;395(4):705-16.
Viczian AS, Solessio EC, Lyou Y, Zuber ME. 2009. Generation of functional eyes from pluripotent cells. PLoS Biol. Aug;7(8):e1000174.

Mackenzie SJ, Smirnov I, Calancie B. 2011. Cauda Equina Repair in the Rat: Part 2. Time Course of Ventral Root Conduction Failure. J. Neurotrauma May 5, 2011.Â

Mersich AT, Â Miller MR, Chkourko H, Blystone SD. 2010 . The formin FRL1 (FMNL1) is an essential component of macrophage podosomes. Cytoskeleton (Hoboken) Sep;67(9):573-85.

O'Dell RS, Ustine CJ, Cameron DA, Lawless SM, Williams RR, Zipfel WR, Olson EC.
Layer 6 cortical neurons require Reelin-Dab1 signaling for cellular orientation, Golgi deployment, and directed neurite growth into the marginal zone. Neural Dev. 2012 Jul 7;7(1):25. [Epub ahead of print]