Search Results - "Shy, R."

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis by Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E

“…BackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with…”
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Opposing effects of Tcf3 and Tcf1 control Wnt stimulation of embryonic stem cell self-renewal by Merrill, Bradley J, Yi, Fei, Pereira, Laura, Hoffman, Jackson A, Shy, Brian R, Yuen, Courtney M, Liu, David R

“…The co-occupancy of Tcf3 with Oct4, Sox2 and Nanog on embryonic stem cell (ESC) chromatin indicated that Tcf3 has been suggested to play an integral role in a…”
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Engineering an Escherichia coli strain for production of long single-stranded DNA by Shen, Konlin, Flood, Jake J, Zhang, Zhihuizi, Ha, Alvin, Shy, Brian R, Dueber, John E, Douglas, Shawn M

“…Long single-stranded DNA (ssDNA) is a versatile molecular reagent with applications including RNA-guided genome engineering and DNA nanotechnology, yet its…”
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Regulation of Tcf7l1 DNA Binding and Protein Stability as Principal Mechanisms of Wnt/β-Catenin Signaling by Shy, Brian R., Wu, Chun-I., Khramtsova, Galina F., Zhang, Jenny Y., Olopade, Olufunmilayo I., Goss, Kathleen H., Merrill, Bradley J.

“…Wnt/β-catenin signal transduction requires direct binding of β-catenin to Tcf/Lef proteins, an event that is classically associated with stimulating…”
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Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease by Cornett, Kayla M D, Menezes, Manoj P, Bray, Paula, Halaki, Mark, Shy, Rosemary R, Yum, Sabrina W, Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laurá, Matilde, Bhandari, Trupti, Muntoni, Francesco, Reilly, Mary M, Finkel, Richard S, Sowden, Janet, Eichinger, Katy J, Herrmann, David N, Shy, Michael E, Burns, Joshua

“…Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been extensively characterized, either within or between types of CMT to date. To…”
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Polyclonal Regulatory T Cell Manufacturing Under cGMP: A Decade of Experience by Balcerek, Joanna, Shy, Brian R, Putnam, Amy L, Masiello, Lisa M, Lares, Angela, Dekovic, Florinna, Acevedo, Luis, Lee, Michael R, Nguyen, Vinh, Liu, Weihong, Paruthiyil, Sreenivasan, Xu, Jingying, Leinbach, Ashley S, Bluestone, Jeffrey A, Tang, Qizhi, Esensten, Jonathan H

“…We report on manufacturing outcomes for 41 autologous polyclonal regulatory T cell (PolyTreg) products for 7 different Phase 1 clinical trials over a 10-year…”
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MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B by Saporta, Mario A C, Shy, Brian R, Patzko, Agnes, Bai, Yunhong, Pennuto, Maria, Ferri, Cinzia, Tinelli, Elisa, Saveri, Paola, Kirschner, Dan, Crowther, Michelle, Southwood, Cherie, Wu, Xingyao, Gow, Alexander, Feltri, M Laura, Wrabetz, Lawrence, Shy, Michael E

“…Mutations in myelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B. Many dominant MPZ mutations, including R98C, present as infantile onset…”
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Phenotypic clustering in MPZ mutations by Shy, Michael E., Jáni, Agnes, Krajewski, Karen, Grandis, Marina, Lewis, Richard A., Li, Jun, Shy, Rosemary R., Balsamo, Janne, Lilien, Jack, Garbern, James Y., Kamholz, John

“…Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains. Homotypic…”
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Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS by Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Reilly, Mary M., Finkel, Richard S., Eichinger, Katy J., Herrmann, David N., Shy, Michael E., Burns, Joshua

“…The CMT Pediatric Scale (CMTPedS) is a reliable, valid, and responsive clinical outcome measure of disability in children with CMT. The aim of this study was…”
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Magnitude and Kinetics of Anti–Severe Acute Respiratory Syndrome Coronavirus 2 Antibody Responses and Their Relationship to Disease Severity by Lynch, Kara L, Whitman, Jeffrey D, Lacanienta, Noreen P, Beckerdite, Erica W, Kastner, Shannon A, Shy, Brian R, Goldgof, Gregory M, Levine, Andrew G, Bapat, Sagar P, Stramer, Susan L, Esensten, Jonathan H, Hightower, Allen W, Bern, Caryn, Wu, Alan H B

“…Abstract Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be detected indirectly by measuring the host immune response…”
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Targeted delivery of CRISPR-Cas9 and transgenes enables complex immune cell engineering by Hamilton, Jennifer R., Tsuchida, Connor A., Nguyen, David N., Shy, Brian R., McGarrigle, E. Riley, Sandoval Espinoza, Cindy R., Carr, Daniel, Blaeschke, Franziska, Marson, Alexander, Doudna, Jennifer A.

“…As genome engineering advances cell-based therapies, a versatile approach to introducing both CRISPR-Cas9 ribonucleoproteins (RNPs) and therapeutic transgenes…”
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High-yield genome engineering in primary cells using a hybrid ssDNA repair template and small-molecule cocktails by Shy, Brian R., Vykunta, Vivasvan S., Ha, Alvin, Talbot, Alexis, Roth, Theodore L., Nguyen, David N., Pfeifer, Wolfgang G., Chen, Yan Yi, Blaeschke, Franziska, Shifrut, Eric, Vedova, Shane, Mamedov, Murad R., Chung, Jing-Yi Jing, Li, Hong, Yu, Ruby, Wu, David, Wolf, Jeffrey, Martin, Thomas G., Castro, Carlos E., Ye, Lumeng, Esensten, Jonathan H., Eyquem, Justin, Marson, Alexander

“…Enhancing CRISPR-mediated site-specific transgene insertion efficiency by homology-directed repair (HDR) using high concentrations of double-stranded DNA…”
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Co-incident insertion enables high efficiency genome engineering in mouse embryonic stem cells by Shy, Brian R, MacDougall, Matthew S, Clarke, Ryan, Merrill, Bradley J

“…CRISPR/Cas9 nucleases have enabled powerful, new genome editing capabilities; however, the preponderance of non-homologous end joining (NHEJ) mediated repair…”
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Pooled screening of CAR T cells identifies diverse immune signaling domains for next-generation immunotherapies by Goodman, Daniel B, Azimi, Camillia S, Kearns, Kendall, Talbot, Alexis, Garakani, Kiavash, Garcia, Julie, Patel, Nisarg, Hwang, Byungjin, Lee, David, Park, Emily, Vykunta, Vivasvan S, Shy, Brian R, Ye, Chun Jimmie, Eyquem, Justin, Marson, Alexander, Bluestone, Jeffrey A, Roybal, Kole T

“…Chimeric antigen receptors (CARs) repurpose natural signaling components to retarget T cells to refractory cancers but have shown limited efficacy in…”
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Base-editing mutagenesis maps alleles to tune human T cell functions by Schmidt, Ralf, Ward, Carl C., Dajani, Rama, Armour-Garb, Zev, Ota, Mineto, Allain, Vincent, Hernandez, Rosmely, Layeghi, Madeline, Xing, Galen, Goudy, Laine, Dorovskyi, Dmytro, Wang, Charlotte, Chen, Yan Yi, Ye, Chun Jimmie, Shy, Brian R., Gilbert, Luke A., Eyquem, Justin, Pritchard, Jonathan K., Dodgson, Stacie E., Marson, Alexander

“…CRISPR-enabled screening is a powerful tool for the discovery of genes that control T cell function and has nominated candidate targets for immunotherapies 1 –…”
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Bidirectional epigenetic editing reveals hierarchies in gene regulation by Pacalin, Naomi M, Steinhart, Zachary, Shi, Quanming, Belk, Julia A, Dorovskyi, Dmytro, Kraft, Katerina, Parker, Kevin R, Shy, Brian R, Marson, Alexander, Chang, Howard Y

“…CRISPR perturbation methods are limited in their ability to study non-coding elements and genetic interactions. In this study, we developed a system for…”
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CRISPR–Cas9-mediated nuclear transport and genomic integration of nanostructured genes in human primary cells by Lin-Shiao, Enrique, Pfeifer, Wolfgang G, Shy, Brian R, Saffari Doost, Mohammad, Chen, Evelyn, Vykunta, Vivasvan S, Hamilton, Jennifer R, Stahl, Elizabeth C, Lopez, Diana M, Sandoval Espinoza, Cindy R, Deyanov, Alexander E, Lew, Rachel J, Poirer, Michael G, Marson, Alexander, Castro, Carlos E, Doudna, Jennifer A

“…Abstract DNA nanostructures are a promising tool to deliver molecular payloads to cells. DNA origami structures, where long single-stranded DNA is folded into…”
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Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study by Pipis, Menelaos, Feely, Shawna M E, Polke, James M, Skorupinska, Mariola, Perez, Laura, Shy, Rosemary R, Laura, Matilde, Morrow, Jasper M, Moroni, Isabella, Pisciotta, Chiara, Taroni, Franco, Vujovic, Dragan, Lloyd, Thomas E, Acsadi, Gyula, Yum, Sabrina W, Lewis, Richard A, Finkel, Richard S, Herrmann, David N, Day, John W, Li, Jun, Saporta, Mario, Sadjadi, Reza, Walk, David, Burns, Joshua, Muntoni, Francesco, Ramchandren, Sindhu, Horvath, Rita, Johnson, Nicholas E, Züchner, Stephan, Pareyson, Davide, Scherer, Steven S, Rossor, Alexander M, Shy, Michael E, Reilly, Mary M

“…Mitofusin-2 (MFN2) is one of two ubiquitously expressed homologous proteins in eukaryote cells, playing a critical role in mitochondrial fusion. Mutations in…”
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Function of Wnt/β-catenin in counteracting Tcf3 repression through the Tcf3-β-catenin interaction by Wu, Chun-I, Hoffman, Jackson A, Shy, Brian R, Ford, Erin M, Fuchs, Elaine, Nguyen, Hoang, Merrill, Bradley J

“…The canonical Wnt/β-catenin signaling pathway classically functions through the activation of target genes by Tcf/Lef-β-catenin complexes. In contrast to…”
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Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene by Sanmaneechai, Oranee, Feely, Shawna, Scherer, Steven S, Herrmann, David N, Burns, Joshua, Muntoni, Francesco, Li, Jun, Siskind, Carly E, Day, John W, Laura, Matilde, Sumner, Charlotte J, Lloyd, Thomas E, Ramchandren, Sindhu, Shy, Rosemary R, Grider, Tiffany, Bacon, Chelsea, Finkel, Richard S, Yum, Sabrina W, Moroni, Isabella, Piscosquito, Giuseppe, Pareyson, Davide, Reilly, Mary M, Shy, Michael E

“…We aimed to characterize genotype-phenotype correlations and establish baseline clinical data for peripheral neuropathies caused by mutations in the myelin…”
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