Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Ashley L, Siniard"'
Autor:
Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
Publikováno v:
Cells, Vol 12, Iss 10, p 1437 (2023)
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have an overlapping neurological phenotype with RTT but are lacking a mutat
Externí odkaz:
https://doaj.org/article/20acec46706042719162109c33744bd6
Autor:
Adrienne R. Henderson, Qi Wang, Bessie Meechoovet, Ashley L. Siniard, Marcus Naymik, Matthew De Both, Matthew J. Huentelman, Richard J. Caselli, Erika Driver-Dunckley, Travis Dunckley
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Parkinson’s disease (PD) is the second most common age-related neurodegenerative disease. It is presently only accurately diagnosed at an advanced stage by a series of motor deficits, which are predated by a litany of non-motor symptoms manifesting
Externí odkaz:
https://doaj.org/article/2d618f30f8de492a98d0be8ac1e9b9f9
Autor:
Wayne M. Jepsen, Matthew De Both, Ashley L. Siniard, Keri Ramsey, Ignazio S. Piras, Marcus Naymik, Adrienne Henderson, Matthew J. Huentelman
Publikováno v:
Biology Open, Vol 10, Iss 1 (2021)
The organic anion transporter Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1), also known as MRP1, has been demonstrated in murine models of Alzheimer's disease (AD) to export amyloid beta (Abeta) from the endothelial cells of th
Externí odkaz:
https://doaj.org/article/1ca471e5ceb64967ac8c963b61393b19
Autor:
Alex Janss, Elizabeth Carlson, Matt De Both, Chris Balak, Joseph Winarta, Ryan Richholt, Ashley L. Siniard, Brian Churas, Khalouk Shahbander, Rebecca Reiman, April N. Allen, Timothy G. Whitsett, Ryan Bruhns, Elizabeth Hutchins, Kendall Van Keuren-Jensen, Taylor Beecroft, Matthew J. Huentelman, Matthew Anastasi, Roger McCoy
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Scientific Data
Scientific Data
Circular RNA (circRNA) are a recently discovered class of RNA characterized by a covalently-bonded back-splice junction. As circRNAs are inherently more stable than other RNA species, they may be detected extracellularly in peripheral biofluids and p
Autor:
Matthew J. Huentelman, Ignazio S. Piras, Ashley L. Siniard, Matthew D. De Both, Ryan F. Richholt, Chris D. Balak, Pouya Jamshidi, Eileen H. Bigio, Sandra Weintraub, Emmaleigh T. Loyer, M.-Marsel Mesulam, Changiz Geula, Emily J. Rogalski
Publikováno v:
Frontiers in Aging Neuroscience, Vol 10 (2018)
Introduction: SuperAgers are adults age 80+ with episodic memory performance that is at least as good as that of average middle-aged adults. Understanding the biological determinants of SuperAging may have relevance to preventing age-related cognitiv
Externí odkaz:
https://doaj.org/article/998b12d250974148b751be24f7e361fc
Autor:
Mari N Willeman, Sarah E Mennenga, Ashley L Siniard, Jason J Corneveaux, Matt De Both, Lauren T Hewitt, Candy W S Tsang, Jason Caselli, B Blair Braden, Heather A Bimonte-Nelson, Matthew J Huentelman
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0198256 (2018)
Enzastaurin is a Protein Kinase C-β selective inhibitor that was developed to treat cancers. Protein Kinase C-β is an important enzyme for a variety of neuronal functions; in particular, previous rodent studies have reported deficits in spatial and
Externí odkaz:
https://doaj.org/article/ad0768c419be4439a12591cd99f2fae8
Autor:
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen
Publikováno v:
F1000Research, Vol 6 (2017)
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describ
Externí odkaz:
https://doaj.org/article/3c3a49b6d93e4c97a0f99e2dd4136961
Autor:
Isabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, Ahmet Kurdoglu, Jason J Corneveaux, Ivana Malenica, Ryan Richholt, Guy Van Camp, Matt De Both, Shanker Swaminathan, Mari Turk, Keri Ramsey, David W Craig, Vinodh Narayanan, Matthew J Huentelman
Publikováno v:
PLoS ONE, Vol 10, Iss 7, p e0131797 (2015)
A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revea
Externí odkaz:
https://doaj.org/article/86571f2e591c428f8ec1dd595dafcf7e
Autor:
Ashley L. Siniard, Marcus Naymik, Bessie Meechoovet, Matthew J. Huentelman, Erika Driver-Dunckley, Qi Wang, Richard J. Caselli, Matthew De Both, Travis Dunckley, Adrienne R. Henderson
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Parkinson’s disease (PD) is the second most common age-related neurodegenerative disease. It is presently only accurately diagnosed at an advanced stage by a series of motor deficits, which are predated by a litany of non-motor symptoms manifesting
Autor:
Isabelle Schrauwen, Renee M Barber, Scott J Schatzberg, Ashley L Siniard, Jason J Corneveaux, Brian F Porter, Karen M Vernau, Rebekah I Keesler, Kaspar Matiasek, Thomas Flegel, Andrew D Miller, Teresa Southard, Christopher L Mariani, Gayle C Johnson, Matthew J Huentelman
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e112755 (2014)
Necrotizing meningoencephalitis (NME) affects toy and small breed dogs causing progressive, often fatal, inflammation and necrosis in the brain. Genetic risk loci for NME previously were identified in pug dogs, particularly associated with the dog le
Externí odkaz:
https://doaj.org/article/7ba53d5e5b7b4ca1851f99a0bf60f77d