Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Louis J Ptacek"'
Publikováno v:
Advances in genetics. 74
Daily rhythms of behavioral and physiological processes are believed to arise from endogenous circadian clocks. Unlike model organisms, genetic studies of human behavioral traits present extra challenges due to many factors such as the heterogeneous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a28b97f10297fc33781ab098dfbee19b
https://pubmed.ncbi.nlm.nih.gov/21924979
https://pubmed.ncbi.nlm.nih.gov/21924979
Autor:
Brian Jay Feldman, Maria Jose Costa, Alex Y So, Krista Kaasik, Katherine C Krueger, Marlisa L Pillsbury, Ying-Hui Fu, Louis J Ptacek, Keith R Yamamoto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a862743fdf4527528508f77022b5d764
https://doi.org/10.1210/endo-meetings.2011.part3.p32.p3-347
https://doi.org/10.1210/endo-meetings.2011.part3.p32.p3-347
Publikováno v:
Developmental neuroscience. 27(5)
The gene responsible for the audiogenic seizure (AGS) phenotype in Frings mice, which was identified and originally designated Mass1, is now referred to as Mgr1. Although the function of the gene product is not known, the expression pattern suggests
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8b5d38d6545c4dad3454e0535a13db54
https://pubmed.ncbi.nlm.nih.gov/16137990
https://pubmed.ncbi.nlm.nih.gov/16137990
Autor:
Kathryn J. Swoboda, Emmanuel Kanavakis, Athina Xaidara, Justine E. Johnson, Mark F. Leppert, Mylynda B. Schlesinger-Massart, Louis J. Ptacek, Kenneth Silver, Sotiris Youroukos
Publikováno v:
Annals of Neurology; Jun2004, Vol. 55 Issue 6, p884-887, 4p
Autor:
Rabi Tawil, Louis J Ptacek, Steven G. Pavlakis, Darryl C. DeVivo, Audrey S. Penn, Coskun Öuzdemir, Robert C. Griggs
Publikováno v:
Annals of Neurology. 36:253-253
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed4cb211a9ce04807a252067540e0d0f
https://doi.org/10.1002/ana.410360224
https://doi.org/10.1002/ana.410360224
Autor:
Arisa Hirano, Guangsen Shi, Christopher R Jones, Anna Lipzen, Len A Pennacchio, Ying Xu, William C Hallows, Thomas McMahon, Maya Yamazaki, Louis J Ptáček, Ying-Hui Fu
Publikováno v:
eLife, Vol 5 (2016)
Familial Advanced Sleep Phase (FASP) is a heritable human sleep phenotype characterized by very early sleep and wake times. We identified a missense mutation in the human Cryptochrome 2 (CRY2) gene that co-segregates with FASP in one family. The muta
Externí odkaz:
https://doaj.org/article/136bb08d5052403ab88a6847a7402a92
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0137370 (2015)
Externí odkaz:
https://doaj.org/article/a5c2a9a5ae1d4309b4ff3807c966e1af
Autor:
Louis Viollet, Gustavo Glusman, Kelley J Murphy, Tara M Newcomb, Sandra P Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L Barbano, Candida Brown, Mary E Brunkow, Harry T Chugani, Sarah R Cheyette, Abigail Collins, Suzanne D DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B Jorde, Mary D King, Bernie LaSalle, Richard J Leventer, Aga J Lewelt, Mylynda B Massart, Mario R Mérida, Louis J Ptáček, Jared C Roach, Robert S Rust, Francis Renault, Terry D Sanger, Marcio A Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J Swoboda
Publikováno v:
PLoS ONE, Vol 10, Iss 5, p e0127045 (2015)
Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase. Published studies to date indicate 2 recurrent mutations, D801N and E815K, and a more severe phenotype in the E815K cohort. We p
Externí odkaz:
https://doaj.org/article/e7147684d4fa49fb9e01318e1d1efef6
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e31987 (2012)
Throughout the day, clock proteins synchronize changes in animal physiology (e.g., wakefulness and appetite) with external cues (e.g., daylight and food). In vertebrates, both casein kinase 1 delta and epsilon (CK1δ and CK1ε) regulate these circadi
Externí odkaz:
https://doaj.org/article/76d47a1603a3459389664b2b7efe0113