Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Kevin C Ess"'
Autor:
Mary-Bronwen L Chalkley, Rachel B Mersfelder, Maria Sundberg, Laura C Armstrong, Mustafa Sahin, Rebecca A Ihrie, Kevin C Ess
Publikováno v:
PLoS ONE, Vol 18, Iss 10, p e0292086 (2023)
Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. TSC is caused by mutations in the TSC1 or TSC2 genes, which encode the hamartin/tuberin proteins respectively. These prot
Externí odkaz:
https://doaj.org/article/d45f6b6c25b340218f4d2f8d48a9b3ea
Autor:
Mark D Grier, Kathryn L West, Nathaniel D Kelm, Cary Fu, Mark D Does, Brittany Parker, Eleanor McBrier, Andre H Lagrange, Kevin C Ess, Robert P Carson
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0188417 (2017)
Myelin abnormalities are increasingly being recognized as an important component of a number of neurologic developmental disorders. The integration of many signaling pathways and cell types are critical for correct myelinogenesis. The PI3-K and mecha
Externí odkaz:
https://doaj.org/article/dae7a15021de44879ce950438c568727
Autor:
Andrew M Tidball, M Diana Neely, Reed Chamberlin, Asad A Aboud, Kevin K Kumar, Bingying Han, Miles R Bryan, Michael Aschner, Kevin C Ess, Aaron B Bowman
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150372 (2016)
Alterations in DNA damage response and repair have been observed in Huntington's disease (HD). We generated induced pluripotent stem cells (iPSC) from primary dermal fibroblasts of 5 patients with HD and 5 control subjects. A significant fraction of
Externí odkaz:
https://doaj.org/article/b56929f32f7b45e1a95523e51430836a
Autor:
Seok-Hyung Kim, Shu-Yu Wu, Jeong-In Baek, Soo Young Choi, Yanhui Su, Charles R Flynn, Joshua T Gamse, Kevin C Ess, Gary Hardiman, Joshua H Lipschutz, Naji N Abumrad, Don C Rockey
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0125980 (2015)
Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease such as simple steatosis, nonalcoholic steatohepatitis (NASH), cirrhosis and fibrosis. However, the molecular pathogenesis and genetic variations causi
Externí odkaz:
https://doaj.org/article/af2fa58e45da47c8b8fc7fd6c834cb62
Autor:
Seok-Hyung Kim, Sarah A Scott, Michael J Bennett, Robert P Carson, Joshua Fessel, H Alex Brown, Kevin C Ess
Publikováno v:
PLoS Genetics, Vol 9, Iss 6, p e1003563 (2013)
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) is a severe mitochondrial disorder featuring multi-organ dysfunction. Mutations in either the ETFA, ETFB, and ETFDH genes can cause MADD but very little is known about disease specific mechanisms due
Externí odkaz:
https://doaj.org/article/13fea3f8cb7c4352b00a7b4b8c1286e7
Autor:
Yeliz Boglev, Andrew P Badrock, Andrew J Trotter, Qian Du, Elsbeth J Richardson, Adam C Parslow, Sebastian J Markmiller, Nathan E Hall, Tanya A de Jong-Curtain, Annie Y Ng, Heather Verkade, Elke A Ober, Holly A Field, Donghun Shin, Chong H Shin, Katherine M Hannan, Ross D Hannan, Richard B Pearson, Seok-Hyung Kim, Kevin C Ess, Graham J Lieschke, Didier Y R Stainier, Joan K Heath
Publikováno v:
PLoS Genetics, Vol 9, Iss 2, p e1003279 (2013)
Ribosome biogenesis underpins cell growth and division. Disruptions in ribosome biogenesis and translation initiation are deleterious to development and underlie a spectrum of diseases known collectively as ribosomopathies. Here, we describe a novel
Externí odkaz:
https://doaj.org/article/f2b587b2488b4beba385b93b524c7da4
Autor:
Young Wook Chun, Matthew Miyamoto, Charles H. Williams, Leif R. Neitzel, Maya Silver-Isenstadt, Adrian G. Cadar, Daniela T. Fuller, Daniel C. Fong, Hanhan Liu, Robert Lease, Sungseek Kim, Mikako Katagiri, Matthew D. Durbin, Kuo-Chen Wang, Tromondae K. Feaster, Calvin C. Sheng, M. Diana Neely, Urmila Sreenivasan, Marcia Cortes-Gutierrez, Aloke V. Finn, Rachel Schot, Grazia M.S. Mancini, Seth A. Ament, Kevin C. Ess, Aaron B. Bowman, Zhe Han, David P. Bichell, Yan Ru Su, Charles C. Hong
Publikováno v:
Circulation, 147(17), 1291-1303. Lippincott Williams & Wilkins
Background: During cardiomyocyte maturation, the centrosome, which functions as a microtubule organizing center in cardiomyocytes, undergoes dramatic structural reorganization where its components reorganize from being localized at the centriole to t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b3337e9bbe73dad57cf13a9b3b4beaf
https://doi.org/10.1161/circulationaha.122.060985
https://doi.org/10.1161/circulationaha.122.060985
Autor:
Micah A. D’Archangel, Stephanie N. Del Tufo, Laurie E. Cutting, Fiona E. Harrison, Kevin C. Ess, Laura A. Barquero
Publikováno v:
Journal of Pediatric Neuropsychology. 8:155-167
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c02f37ca8224eec3fb931ed39cd5c225
https://doi.org/10.1007/s40817-022-00132-2
https://doi.org/10.1007/s40817-022-00132-2
Autor:
Laura C. Geben, Asa A. Brockman, Mary Bronwen L. Chalkley, Serena R. Sweet, Julia E. Gallagher, Alexandra L. Scheuing, Richard B. Simerly, Kevin C. Ess, Jonathan M. Irish, Rebecca A. Ihrie
Publikováno v:
bioRxiv
A limiting factor in the regenerative capacity of the adult brain is the abundance and proliferative ability of neural stem cells (NSCs). Adult NSCs are derived from a subpopulation of embryonic NSCs that temporarily enter quiescence during mid-gesta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3198b90449be7eb2cf47c3dcc1efda3
https://europepmc.org/articles/PMC9948964/
https://europepmc.org/articles/PMC9948964/
Autor:
Mary-Bronwen L. Chalkley, Rachel B. Mersfelder, Maria Sundberg, Laura Armstrong, Mustafa Sahin, Rebecca A. Ihrie, Kevin C. Ess
SUMMARYTuberous Sclerosis Complex (TSC) is a debilitating neurodevelopmental disorder characterized by a variety of clinical manifestations including epilepsy, autism, and intellectual disability. TSC is caused by mutations in theTSC1orTSC2genes, whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::697e91ee152acfe1df14cec375dd1726
https://doi.org/10.1101/2022.12.07.519401
https://doi.org/10.1101/2022.12.07.519401