Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro

por Jepsen, Wayne M., De Both, Matthew, Siniard, Ashley L., Ramsey, Keri, Piras, Ignazio S., Naymik, Marcus, Henderson, Adrienne, Huentelman, Matthew J.
Publicado 2021

DNA Methylation and Expression Profiles of Whole Blood in Parkinson’s Disease

por Henderson, Adrienne R., Wang, Qi, Meechoovet, Bessie, Siniard, Ashley L., Naymik, Marcus, De Both, Matthew, Huentelman, Matthew J., Caselli, Richard J., Driver-Dunckley, Erika, Dunckley, Travis
Publicado 2021

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

por Szelinger, Szabolcs, Malenica, Ivana, Corneveaux, Jason J., Siniard, Ashley L., Kurdoglu, Ahmet A., Ramsey, Keri M., Schrauwen, Isabelle, Trent, Jeffrey M., Narayanan, Vinodh, Huentelman, Matthew J., Craig, David W.
Publicado 2014

The PKC-β selective inhibitor, Enzastaurin, impairs memory in middle-aged rats

por Willeman, Mari N., Mennenga, Sarah E., Siniard, Ashley L., Corneveaux, Jason J., De Both, Matt, Hewitt, Lauren T., Tsang, Candy W. S., Caselli, Jason, Braden, B. Blair, Bimonte-Nelson, Heather A., Huentelman, Matthew J.
Publicado 2018

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers

por Huentelman, Matthew J., Piras, Ignazio S., Siniard, Ashley L., De Both, Matthew D., Richholt, Ryan F., Balak, Chris D., Jamshidi, Pouya, Bigio, Eileen H., Weintraub, Sandra, Loyer, Emmaleigh T., Mesulam, M.-Marsel, Geula, Changiz, Rogalski, Emily J.
Publicado 2018

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

por Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matthew J.
Publicado 2015

Identification of Novel Genetic Risk Loci in Maltese Dogs with Necrotizing Meningoencephalitis and Evidence of a Shared Genetic Risk across Toy Dog Breeds

por Schrauwen, Isabelle, Barber, Renee M., Schatzberg, Scott J., Siniard, Ashley L., Corneveaux, Jason J., Porter, Brian F., Vernau, Karen M., Keesler, Rebekah I., Matiasek, Kaspar, Flegel, Thomas, Miller, Andrew D., Southard, Teresa, Mariani, Christopher L., Johnson, Gayle C., Huentelman, Matthew J.
Publicado 2014

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

por Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Publicado 2016

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle
Publicado 2017

Transcriptomic Analysis of Tail Regeneration in the Lizard Anolis carolinensis Reveals Activation of Conserved Vertebrate Developmental and Repair Mechanisms

por Hutchins, Elizabeth D., Markov, Glenn J., Eckalbar, Walter L., George, Rajani M., King, Jesse M., Tokuyama, Minami A., Geiger, Lauren A., Emmert, Nataliya, Ammar, Michael J., Allen, April N., Siniard, Ashley L., Corneveaux, Jason J., Fisher, Rebecca E., Wade, Juli, DeNardo, Dale F., Rawls, J. Alan, Huentelman, Matthew J., Wilson-Rawls, Jeanne, Kusumi, Kenro
Publicado 2014

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

por Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2020

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

por Frankel, Eric, Podder, Avijit, Sharifi, Megan, Pillai, Roshan, Belnap, Newell, Ramsey, Keri, Dodson, Julius, Venugopal, Pooja, Brzezinski, Molly, Llaci, Lorida, Gerald, Brittany, Mills, Gabrielle, Sanchez-Castillo, Meredith, Balak, Chris D., Szelinger, Szabolcs, Jepsen, Wayne M., Siniard, Ashley L., Richholt, Ryan, Naymik, Marcus, Schrauwen, Isabelle, Craig, David W., Piras, Ignazio S., Huentelman, Matthew J., Schork, Nicholas J., Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2023