Zobrazeno 1 - 10
of 482
pro vyhledávání: '"Alfred L. George"'
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:
Megan J. Puckelwartz, Lorenzo L. Pesce, Edgar J. Hernandez, Gregory Webster, Lisa M. Dellefave-Castillo, Mark W. Russell, Sarah S. Geisler, Samuel D. Kearns, Felix Karthik, Susan P. Etheridge, Tanner O. Monroe, Tess D. Pottinger, Prince J. Kannankeril, M. Benjamin Shoemaker, Darlene Fountain, Dan M. Roden, Meghan Faulkner, Heather M. MacLeod, Kristin M. Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L. George, Elizabeth M. McNally
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variatio
Externí odkaz:
https://doaj.org/article/754c31b062b14f8fb5738e1f18f62142
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:
Joyce C. Ohiri, Lisa Dellefave‐Castillo, Garima Tomar, Lisa Wilsbacher, Lubna Choudhury, David Y. Barefield, Dominic Fullenkamp, Anthony M. Gacita, Tanner O. Monroe, Lorenzo Pesce, Malorie Blancard, Lauren Vaught, Alfred L. George, Alexis R. Demonbreun, Megan J. Puckelwartz, Elizabeth M. McNally
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 10 (2024)
Background Many cardiomyopathy‐associated FLNC pathogenic variants are heterozygous truncations, and FLNC pathogenic variants are associated with arrhythmias. Arrhythmia triggers in filaminopathy are incompletely understood. Methods and Results We
Externí odkaz:
https://doaj.org/article/f77896bb0287466494c3807c1849c7e0
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:
Yang Cao, Huachun Liu, Shannon S. Lu, Krysten A. Jones, Anitha P. Govind, Okunola Jeyifous, Christine Q. Simmons, Negar Tabatabaei, William N. Green, Jimmy. L. Holder, Soroush Tahmasebi, Alfred L. George, Bryan C. Dickinson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Technologies capable of programmable translation activation offer strategies to develop therapeutics for diseases caused by insufficient gene expression. Here, we present “translation-activating RNAs” (taRNAs), a bifunctional RNA-based m
Externí odkaz:
https://doaj.org/article/2f3bf8fe6f5a49a79837b57f3d09a867
Autor:
Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
The 16p11.2 duplication confers risk for autism and schizophrenia, but the disease mechanisms are unknown. Here, the authors use proteomics to show dysregulation of synaptic and epilepsy-associated protein networks in the cortex of model mice, and de
Externí odkaz:
https://doaj.org/article/d8bd400d64534b3a8bce832350e7bb51
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:
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:
Tracy S. Gertler, Suraj Cherian, Jean-Marc DeKeyser, Jennifer A. Kearney, Alfred L. George, Jr
Publikováno v:
Neurobiology of Disease, Vol 168, Iss , Pp 105713- (2022)
KCNT1 encodes the sodium-activated potassium channel KNa1.1, expressed preferentially in the frontal cortex, hippocampus, cerebellum, and brainstem. Pathogenic missense variants in KCNT1 are associated with intractable epilepsy, namely epilepsy of in
Externí odkaz:
https://doaj.org/article/a281ef78d17b40329578f8004652cca5