Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Pamela J. Snyder"'
Autor:
Huolin Tu, Pamela J. Snyder, John Madison, Dan Jones, Richard Eltringham, Huanyu Wang, Amy Leber, Sophonie Jean
Publikováno v:
J Clin Microbiol
The emergence of more transmissible and/or more virulent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants of concern (VOC) has triggered intensive genomic surveillance, which is costly and difficult to sustain operationally over
Autor:
Sergey Paushkin, Charlotte J. Sumner, Frank Rigo, Ian Waters, Pamela J. Snyder, Thomas W. Prior, Shannon J. Taylor, Constantin d’Ydewalle, Christine L. Hatem, Nikhil Gupte, Thomas O. Crawford, Daniel A. Norris, John B. Matson, Amal Dakka, Kathryn J. Swoboda, C. Frank Bennett, Phillip G. Zaworski, Nikolai Naryshkin, Vijayalakshmi Gabbeta, Stephanie Klein, Daniel M. Ramos, David Valdivia
Publikováno v:
Journal of Clinical Investigation. 129:4817-4831
BACKGROUND: Spinal muscular atrophy (SMA) is caused by deficient expression of survival motor neuron (SMN) protein. New SMN-enhancing therapeutics are associated with variable clinical benefits. Limited knowledge of baseline and drug-induced SMN leve
Autor:
Pamela J. Snyder, Huolin Tu, Dan Jones, John Madison, Richard Eltringham, Amy Leber, Sophonie Jean, Huanyu Wang
The emergence of more transmissible and/or more virulent SARS-CoV-2 variants of concern (VOCs) has triggered intensive genomic surveillance, which is costly and difficult to sustain operationally over the long-term. To address this problem, we develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54e04fbda6e23613a7ebcfd9f171c5b8
https://doi.org/10.1101/2021.04.22.21255574
https://doi.org/10.1101/2021.04.22.21255574
Autor:
Thomas W. Prior, Stephen J. Kolb, Corey Ruhno, John T. Kissel, Arthur H. M. Burghes, W. David Arnold, Pamela J. Snyder, Vicki L. McGovern, Jennifer Roggenbuck, Stanley Iyadurai
Publikováno v:
Muscle & Nerve. 56:341-345
Introduction: Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a com
Autor:
Matthew R. Avenarius, Jennifer S Roggenbuck, Abdurrahman W. Muhtaseb, Flávia C. Nery, Pamela J. Snyder, John T. Kissel, Kathryn J. Swoboda, Pann H. Nwe, Vicki L. McGovern, Thomas W. Prior, Arthur H.M. Burghes, Ren Z Zhang, Jennifer J. Siranosian, Alec J. Johnstone, Valeria A. Sansone, Corey Ruhno
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3257448dc926ad825225c043d2c0793
https://europepmc.org/articles/PMC6503527/
https://europepmc.org/articles/PMC6503527/
Autor:
Stanley, Iyadurai, W David, Arnold, John T, Kissel, Corey, Ruhno, Vicki L, Mcgovern, Pamela J, Snyder, Thomas W, Prior, Jennifer, Roggenbuck, Arthur H, Burghes, Stephen J, Kolb
Publikováno v:
Musclenerve. 56(2)
Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype
Autor:
Patricia I. Botma, Sandi L. Talbott, Gerald L. Feldman, Jin Fang, Thomas W. Prior, Fatimah A. Nahhas, Thomas J. Monroe, Pamela J. Snyder
Publikováno v:
Genetic Testing and Molecular Biomarkers. 16:187-192
Fragile X syndrome (FXS) is caused by the absence of a functional fragile X mental retardation protein (FMRP). In most cases, the molecular mutation is an expansion and consequent methylation of the CGG trinucleotide repeat in the 5' end of the FMR1
Autor:
Pamela J. Snyder, Manisha H. Shah, Steffen Sammet, Lai Wei, Elaine T. Lam, Minden Collamore, Vasyl Vasko, Matthew D. Ringel, Richard T. Kloos, Jeffrey F. Moley, John Wright, Daria Arbogast, Miguel A. Villalona-Calero, Jiachao Liang, Motoyasu Saji, Michael V. Knopp, Paul E. Wakely, Thomas W. Prior, Nathan Hall
Publikováno v:
Journal of Clinical Oncology. 28:2323-2330
Purpose Mutations in the RET proto-oncogene and vascular endothelial growth factor receptor (VEGFR) activity are critical in the pathogenesis of medullary thyroid cancer (MTC). Sorafenib, a multikinase inhibitor targeting Ret and VEGFR, showed antitu
Autor:
E. A. Renard, William Arnold, Thomas W. Prior, E. J. Poi, Miriam Freimer, John T. Kissel, Stephen J. Kolb, Victoria H. Lawson, S. Sutton, S. Gu, Amy Bartlett, Pamela J. Snyder
Publikováno v:
Neurology. 74:502-506
Objective: Idiopathic peripheral neuropathy is common and likely due to genetic factors that are not detectable using standard linkage analysis. We initiated a candidate gene approach to study the genetic influence of the small heat shock protein (sH
Autor:
Thomas W. Prior, James R. Van Brocklyn, Dennis K. Pearl, Catherine A Jackson, Pamela J. Snyder, Mark S. Kotur
Publikováno v:
Journal of Neuropathology and Experimental Neurology. 64:695-705
Sphingosine-1-phosphate is a bioactive lipid that is mitogenic for human glioma cell lines by signaling through its G protein-coupled receptors. We investigated the role of sphingosine-1-phosphate receptors and the enzymes that form sphingosine-1-pho