Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Alfred L. George Jr."'
Autor:
Gabrielle A. Mesches, Jody D. Ciolino, Catherine S. Stika, Dorothy K. Sit, Katelyn Zumpf, Sheehan Fisher, Crystal T. Clark, Alfred L. George Jr.,, Michael J. Avram, Laura J. Rasmussen‐Torvik, Daniel L. Erickson, Steven Caritis, Dawn Fischer, Raman Venkataramanan, Maged Costantine, Holly West, Elizabeth Welch, Shannon Clark, Katherine L. Wisner, Jacqueline K. Gollan
Publikováno v:
Psychiatric Research and Clinical Practice, Vol 4, Iss 2, Pp 32-41 (2022)
Objective Tracking perinatal mood and anxiety disorders is championed by the American Psychiatric Association and the International Marcé Society for Perinatal Mental Health. We conducted this study to examine trajectories of monthly depressive and
Externí odkaz:
https://doaj.org/article/375337d6ffd043868a3ee9b36fdd7699
Autor:
Saaket Agrawal, Meredith S. Heiss, Remington B. Fenter, Tatiana V. Abramova, Minoli A. Perera, Jennifer A. Pacheco, Maureen E. Smith, Laura J. Rasmussen‐Torvik, Alfred L. George Jr.
Publikováno v:
Clinical and Translational Science, Vol 13, Iss 5, Pp 941-949 (2020)
Precise dosing of warfarin is important to achieve therapeutic benefit without adverse effects. Pharmacogenomics explains some interindividual variability in warfarin response, but less attention has been paid to drug‐drug interactions in the conte
Externí odkaz:
https://doaj.org/article/94a097a9a48043fc81ab20b0a4e05df8
Autor:
Carlos G. Vanoye, Reshma R. Desai, Zhigang Ji, Sneha Adusumilli, Nirvani Jairam, Nora Ghabra, Nishtha Joshi, Eryn Fitch, Katherine L. Helbig, Dianalee McKnight, Amanda S. Lindy, Fanggeng Zou, Ingo Helbig, Edward C. Cooper, Alfred L. George Jr.
Publikováno v:
JCI Insight, Vol 7, Iss 5 (2022)
Hundreds of genetic variants in KCNQ2 encoding the voltage-gated potassium channel KV7.2 are associated with early onset epilepsy and/or developmental disability, but the functional consequences of most variants are unknown. Absent functional annotat
Externí odkaz:
https://doaj.org/article/3ca0b7a7c21f4302b4b8b629aef4802b
Publikováno v:
Neurobiology of Disease, Vol 203, Iss , Pp 106751- (2024)
Pathogenic variants in ATP1A3 encoding the neuronal Na/K-ATPase cause a spectrum of neurodevelopmental disorders including alternating hemiplegia of childhood (AHC). Three recurrent ATP1A3 variants are associated with approximately half of known AHC
Externí odkaz:
https://doaj.org/article/9b9987373bdb451695dfb28c2c857244
Autor:
Xinghang Jiang, Olivia T. Ly, Hanna Chen, Ziwei Zhang, Beatriz A. Ibarra, Mahmud A. Pavel, Grace E. Brown, Arvind Sridhar, David Tofovic, Abigail Swick, Richard Marszalek, Carlos G. Vanoye, Fritz Navales, Alfred L. George, Jr., Salman R. Khetani, Jalees Rehman, Yu Gao, Dawood Darbar, Ankur Saxena
Publikováno v:
iScience, Vol 27, Iss 7, Pp 110395- (2024)
Summary: Developmental causes of the most common arrhythmia, atrial fibrillation (AF), are poorly defined, with compensation potentially masking arrhythmic risk. Here, we delete 9 amino acids (Δ9) within a conserved domain of the giant protein titin
Externí odkaz:
https://doaj.org/article/489be31f1fb44db7b69aaaf61e69c5c9
Autor:
Seok Kyu Kang, Nicole A. Hawkins, Christopher H. Thompson, Erin M. Baker, Dennis M. Echevarria-Cooper, Levi Barse, Tyler Thenstedt, Conor J. Dixon, Nathan Speakes, Alfred L. George, Jr, Jennifer A. Kearney
Publikováno v:
Neurobiology of Disease, Vol 194, Iss , Pp 106470- (2024)
Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and severit
Externí odkaz:
https://doaj.org/article/4b98448bbf9f4c469dfa4fe4876231d8
Autor:
K. Ashley Fetterman, Malorie Blancard, Davi M. Lyra-Leite, Carlos G. Vanoye, Hananeh Fonoudi, Mariam Jouni, Jean-Marc L. DeKeyser, Brian Lenny, Yadav Sapkota, Alfred L. George, Jr., Paul W. Burridge
Publikováno v:
Cell Reports, Vol 43, Iss 5, Pp 114160- (2024)
Summary: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) recapitulate numerous disease and drug response phenotypes, but cell immaturity may limit their accuracy and fidelity as a model system. Cell culture medium modification
Externí odkaz:
https://doaj.org/article/df419155f7fa4cacb87f83b0c98d9bc2
Autor:
Juan Lorenzo B. Pablo, Savannah L. Cornett, Lei A. Wang, Sooyeon Jo, Tobias Brünger, Nikita Budnik, Mudra Hegde, Jean-Marc DeKeyser, Christopher H. Thompson, John G. Doench, Dennis Lal, Alfred L. George, Jr., Jen Q. Pan
Publikováno v:
Cell Reports, Vol 42, Iss 6, Pp 112563- (2023)
Summary: It is challenging to apply traditional mutational scanning to voltage-gated sodium channels (NaVs) and functionally annotate the large number of coding variants in these genes. Using a cytosine base editor and a pooled viability assay, we sc
Externí odkaz:
https://doaj.org/article/a26ee4757b7c41068a33d54562302016
Autor:
Nicolas Barbera, Sara T. Granados, Carlos Guillermo Vanoye, Tatiana V. Abramova, Danielle Kulbak, Sang Joon Ahn, Alfred L. George, Jr., Belinda S. Akpa, Irena Levitan
Publikováno v:
iScience, Vol 25, Iss 5, Pp 104329- (2022)
Summary: Cholesterol is a major regulator of multiple types of ion channels. Although there is increasing information about cholesterol binding sites, the molecular mechanisms through which cholesterol binding alters channel function are virtually un
Externí odkaz:
https://doaj.org/article/418e7545d4254d19b60eb0bc326bea15
Autor:
Dina Simkin, Kelly A Marshall, Carlos G Vanoye, Reshma R Desai, Bernabe I Bustos, Brandon N Piyevsky, Juan A Ortega, Marc Forrest, Gabriella L Robertson, Peter Penzes, Linda C Laux, Steven J Lubbe, John J Millichap, Alfred L George Jr, Evangelos Kiskinis
Publikováno v:
eLife, Vol 10 (2021)
Mutations in KCNQ2, which encodes a pore-forming K+ channel subunit responsible for neuronal M-current, cause neonatal epileptic encephalopathy, a complex disorder presenting with severe early-onset seizures and impaired neurodevelopment. The conditi
Externí odkaz:
https://doaj.org/article/77a9457c95724ba991f9276aa4d1ab55