Search Results - "Ess, C"

Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist by de Vries, Petrus J., MBChB, MRCPsych, PhD, Whittemore, Vicky H., PhD, Leclezio, Loren, MSc(Neurosci), Byars, Anna W., PhD, Dunn, David, MD, Ess, Kevin C., MD, PhD, Hook, Dena, King, Bryan H., MD, MBA, Sahin, Mustafa, MD, PhD, Jansen, Anna, MD

“…Abstract Background Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance,…”
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A Simplified, Fully Defined Differentiation Scheme for Producing Blood-Brain Barrier Endothelial Cells from Human iPSCs by Neal, Emma H, Marinelli, Nicholas A, Shi, Yajuan, McClatchey, P Mason, Balotin, Kylie M, Gullett, Dalton R, Hagerla, Kameron A, Bowman, Aaron B, Ess, Kevin C, Wikswo, John P, Lippmann, Ethan S

“…Human induced pluripotent stem cell (iPSC)-derived developmental lineages are key tools for in vitro mechanistic interrogations, drug discovery, and disease…”
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Interaction with WDR5 Promotes Target Gene Recognition and Tumorigenesis by MYC by Thomas, Lance R., Wang, Qingguo, Grieb, Brian C., Phan, Jason, Foshage, Audra M., Sun, Qi, Olejniczak, Edward T., Clark, Travis, Dey, Soumyadeep, Lorey, Shelly, Alicie, Bethany, Howard, Gregory C., Cawthon, Bryan, Ess, Kevin C., Eischen, Christine M., Zhao, Zhongming, Fesik, Stephen W., Tansey, William P.

“…MYC is an oncoprotein transcription factor that is overexpressed in the majority of malignancies. The oncogenic potential of MYC stems from its ability to bind…”
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Neuronal and glia abnormalities in Tsc1 -deficient forebrain and partial rescue by rapamycin by Carson, Robert P, Van Nielen, Dominic L, Winzenburger, Peggy A, Ess, Kevin C

“…Abstract Tuberous Sclerosis Complex (TSC) is a multiorgan genetic disease that prominently features brain malformations (tubers) with many patients suffering…”
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Evaluation of diffusion kurtosis imaging in ex vivo hypomyelinated mouse brains by Kelm, Nathaniel D., West, Kathryn L., Carson, Robert P., Gochberg, Daniel F., Ess, Kevin C., Does, Mark D.

“…Diffusion tensor imaging (DTI), diffusion kurtosis imaging (DKI), and DKI-derived white matter tract integrity metrics (WMTI) were experimentally evaluated ex…”
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Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation by Xie, Yunyao, Ng, Nathan N., Safrina, Olga S., Ramos, Carmen M., Ess, Kevin C., Schwartz, Philip H., Smith, Martin A., O'Dowd, Diane K.

“…Over 1250 mutations in SCN1A, the Nav1.1 voltage-gated sodium channel gene, are associated with seizure disorders including GEFS+. To evaluate how a specific…”
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Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex by Carson, Robert P, Fu, Cary, Winzenburger, Peggy, Ess, Kevin C

“…Tuberous sclerosis complex (TSC) is a multisystem genetic disorder with severe neurologic manifestations, including epilepsy, autism, anxiety and attention…”
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Non-canonical functions of a mutant TSC2 protein in mitotic division by Chalkley, Mary-Bronwen L, Mersfelder, Rachel B, Sundberg, Maria, Armstrong, Laura C, Sahin, Mustafa, Ihrie, Rebecca A, Ess, Kevin C

“…Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. TSC is caused by mutations in…”
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TSC1 Mosaicism Leading to Subependymal Giant Cell Astrocytoma but Not Tuberous Sclerosis Complex by Hall, Adriana, Westlake, Grant, Short, Brittany Parker, Pearson, Matthew, Ess, Kevin C.

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Combinatorial polymer matrices enhance in vitro maturation of human induced pluripotent stem cell-derived cardiomyocytes by Chun, Young Wook, Balikov, Daniel A, Feaster, Tromondae K, Williams, Charles H, Sheng, Calvin C, Lee, Jung-Bok, Boire, Timothy C, Neely, M. Diana, Bellan, Leon M, Ess, Kevin C, Bowman, Aaron B, Sung, Hak-Joon, Hong, Charles C

“…Abstract Cardiomyocytes derived from human induced pluripotent stem cells (iPSC-CMs) hold great promise for modeling human heart diseases. However, iPSC-CMs…”
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DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons by Klofas, Lindsay K., Short, Brittany P., Snow, John P., Sinnaeve, Justine, Rushing, Gabrielle V., Westlake, Grant, Weinstein, Will, Ihrie, Rebecca A., Ess, Kevin C., Carson, Robert P.

“…Mutations in the DEPDC5 gene can cause epilepsy, including forms with and without brain malformations. The goal of this study was to investigate the…”
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Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype by Snow, John P., Westlake, Grant, Klofas, Lindsay K., Jeon, Soyoun, Armstrong, Laura C., Swoboda, Kathryn J., George, Alfred L., Ess, Kevin C.

“…Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that…”
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Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood by Simmons, Christine Q., Thompson, Christopher H., Cawthon, Bryan E., Westlake, Grant, Swoboda, Kathryn J., Kiskinis, Evangelos, Ess, Kevin C., George, Alfred L.

“…Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as…”
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Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency by Kim, Seok-Hyung, Scott, Sarah A, Bennett, Michael J, Carson, Robert P, Fessel, Joshua, Brown, H Alex, Ess, Kevin C

“…Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a severe mitochondrial disorder featuring multi-organ dysfunction. Mutations in either the ETFA, ETFB, and…”
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Patient heal thyself: modeling and treating neurological disorders using patient-derived stem cells by Ess, Kevin C

“…Disorders of the brain and spinal cord are common worldwide problems but have remained very difficult to treat. As a group they have diverse etiologies and can…”
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Autophagy induction is a Tor- and Tp53-independent cell survival response in a zebrafish model of disrupted ribosome biogenesis by Boglev, Yeliz, Badrock, Andrew P, Trotter, Andrew J, Du, Qian, Richardson, Elsbeth J, Parslow, Adam C, Markmiller, Sebastian J, Hall, Nathan E, de Jong-Curtain, Tanya A, Ng, Annie Y, Verkade, Heather, Ober, Elke A, Field, Holly A, Shin, Donghun, Shin, Chong H, Hannan, Katherine M, Hannan, Ross D, Pearson, Richard B, Kim, Seok-Hyung, Ess, Kevin C, Lieschke, Graham J, Stainier, Didier Y R, Heath, Joan K

“…Ribosome biogenesis underpins cell growth and division. Disruptions in ribosome biogenesis and translation initiation are deleterious to development and…”
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Loss of mTORC2 signaling in oligodendrocyte precursor cells delays myelination by Grier, Mark D, West, Kathryn L, Kelm, Nathaniel D, Fu, Cary, Does, Mark D, Parker, Brittany, McBrier, Eleanor, Lagrange, Andre H, Ess, Kevin C, Carson, Robert P

“…Myelin abnormalities are increasingly being recognized as an important component of a number of neurologic developmental disorders. The integration of many…”
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Cerebral aquaporin-4 expression is independent of seizures in tuberous sclerosis complex by Short, Brittany, Kozek, Lindsay, Harmsen, Hannah, Zhang, Bo, Wong, Michael, Ess, Kevin C., Fu, Cary, Naftel, Robert, Pearson, Matthew M., Carson, Robert P.

“…Astrocytes serve many functions in the human brain, many of which focus on maintenance of homeostasis. Astrocyte dysfunction in Tuberous Sclerosis Complex…”
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PARK2 patient neuroprogenitors show increased mitochondrial sensitivity to copper by Aboud, Asad A, Tidball, Andrew M, Kumar, Kevin K, Neely, M. Diana, Han, Bingying, Ess, Kevin C, Hong, Charles C, Erikson, Keith M, Hedera, Peter, Bowman, Aaron B

“…Abstract Poorly-defined interactions between environmental and genetic risk factors underlie Parkinson's disease (PD) etiology. Here we tested the hypothesis…”
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Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit by Brown, Jacquelyn A, Faley, Shannon L, Judge, Monika, Ward, Patricia, Ihrie, Rebecca A, Carson, Robert, Armstrong, Laura, Sahin, Mustafa, Wikswo, John P, Ess, Kevin C, Neely, M Diana

“…Tuberous sclerosis complex (TSC) is a multi-system genetic disease that causes benign tumors in the brain and other vital organs. The most debilitating…”
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