Search Results - "George, Alfred L. Jr"

The KATP channel is a molecular sensor of atrophy in skeletal muscle by Tricarico, Domenico, Mele, Antonietta, Camerino, Giulia Maria, Bottinelli, Roberto, Brocca, Lorenza, Frigeri, Antonio, Svelto, Maria, George Jr, Alfred L., Camerino, Diana Conte

“…The involvement of ATP-sensitive K + (K ATP ) channels in the atrophy of slow-twitch (MHC-I) soleus (SOL) and fast-twitch (MHC-IIa) flexor digitorum brevis…”
Get full text

The genetic basis of variability in drug responses by Roden, Dan M, George Jr, Alfred L

“…It is almost axiomatic that patients vary widely in their beneficial responses to drug therapy, and serious and apparently unpredictable adverse drug reactions…”
Get full text

Susceptibility to innate immune activation in genetically-mediated myocarditis by Selgrade, Daniel F, Fullenkamp, Dominic E, Chychula, Ivana A, Li, Binjie, Dellefave-Castillo, Lisa, Dubash, Adi D, Ohiri, Joyce, Monroe, Tanner O, Blancard, Malorie, Tomar, Garima, Holgren, Cory, Burridge, Paul W, George, Jr, Alfred L, Demonbreun, Alexis R, Puckelwartz, Megan, George, Sharon A, Efimov, Igor R, Green, Kathleen J, McNally, Elizabeth M

“…Myocarditis is clinically characterized by chest pain, arrhythmias, and heart failure, and treatment for myocarditis is often supportive. Mutations in DSP, a…”
Get full text

Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1-p.R306C voltage-sensor variant by Kang, Seok Kyu, Hawkins, Nicole A., Thompson, Christopher H., Baker, Erin M., Echevarria-Cooper, Dennis M., Barse, Levi, Thenstedt, Tyler, Dixon, Conor J., Speakes, Nathan, George, Alfred L., Kearney, Jennifer A.

“…Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment,…”
Get full text

KCNE4 domains required for inhibition of KCNQ1 by Manderfield, Lauren J., Daniels, Melissa A., Vanoye, Carlos G., George Jr, Alfred L.

“…Voltage-gated potassium (K v ) channels are modulated in distinct ways by members of the KCNE family of single transmembrane domain accessory subunits. KCNE4…”
Get full text

Predicting the functional impact of KCNQ1 variants with artificial neural networks by Phul, Saksham, Kuenze, Georg, Vanoye, Carlos G, Sanders, Charles R, George, Jr, Alfred L, Meiler, Jens

“…Recent advances in experimental and computational protein structure determination have provided access to high-quality structures for most human proteins and…”
Get full text

SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs by Thompson, Christopher H., Kahlig, Kristopher M., George Jr, Alfred L.

“…Summary Purpose:  A common genetic variant (rs3812718) in a splice donor consensus sequence within the neuronal sodium channel gene SCN1A (encoding NaV1.1)…”
Get full text

Multiplexed transposon-mediated stable gene transfer in human cells by Kahlig, Kristopher M, Saridey, Sai K, Kaja, Aparna, Daniels, Melissa A, George, Alfred L. Jr, Wilson, Matthew H

“…Generation of cultured human cells stably expressing one or more recombinant gene sequences is a widely used approach in biomedical research, biotechnology,…”
Get full text

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility by Jorge, Benjamin S, Campbell, Courtney M, Miller, Alison R, Rutter, Elizabeth D, Gurnett, Christina A, Vanoye, Carlos G, George, Alfred L. Jr, Kearney, Jennifer A

“…Mutations in voltage-gated ion channels are responsible for several types of epilepsy. Genetic epilepsies often exhibit variable severity in individuals with…”
Get full text

Cholesterol-induced suppression of Kir2 channels is mediated by decoupling at the inter-subunit interfaces by Barbera, Nicolas, Granados, Sara T., Vanoye, Carlos Guillermo, Abramova, Tatiana V., Kulbak, Danielle, Ahn, Sang Joon, George, Alfred L., Akpa, Belinda S., Levitan, Irena

“…Cholesterol is a major regulator of multiple types of ion channels. Although there is increasing information about cholesterol binding sites, the molecular…”
Get full text

Divergent sodium channel defects in familial hemiplegic migraine by Kahlig, Kristopher M, Rhodes, Thomas H, Pusch, Michael, Freilinger, Tobias, Pereira-Monteiro, José M, Ferrari, Michel D, van den Maagdenberg, Arn M.J.M, Dichgans, Martin, George, Alfred L. Jr

“…Familial hemiplegic migraine type 3 (FHM3) is a severe autosomal dominant migraine disorder caused by mutations in the voltage-gated sodium channel NaV1.1…”
Get full text

Cardiac ion channels by Roden, Dan M, Balser, Jeffrey R, George, Jr, Alfred L, Anderson, Mark E

“…The normal electrophysiologic behavior of the heart is determined by ordered propagation of excitatory stimuli that result in rapid depolarization and slow…”
Get full text

Manipulating piggyBac Transposon Chromosomal Integration Site Selection in Human Cells by Kettlun, Claudia, Galvan, Daniel L, George Jr, Alfred L, Kaja, Aparna, Wilson, Matthew H

“…The ability to direct gene delivery to a user-defined chromosomal location would greatly improve gene transfer applications. The piggyBac transposon system is…”
Get full text

In Memoriam Arthur J. Atkinson, Jr. (1938–2024) by Lertora, Juan J. L., Huang, Shiew‐Mei, George, Alfred L.

Get full text

Molecular and genetic basis of sudden cardiac death by George, Jr, Alfred L

“…The abrupt cessation of effective cardiac function due to an aberrant heart rhythm can cause sudden and unexpected death at any age, a syndrome called sudden…”
Get full text

Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity by Chai, Sam, Wan, Xiaoping, Ramirez-Navarro, Angelina, Tesar, Paul J, Kaufman, Elizabeth S, Ficker, Eckhard, George, Jr, Alfred L, Deschênes, Isabelle

“…Congenital long QT syndrome (LQTS) is an inherited channelopathy associated with life-threatening arrhythmias. LQTS type 2 (LQT2) is caused by mutations in…”
Get full text

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice by Mistry, Akshitkumar M, Thompson, Christopher H, Miller, Alison R, Vanoye, Carlos G, George,, Alfred L, Kearney, Jennifer A

“…Abstract Heterozygous loss-of-function SCN1A mutations cause Dravet syndrome, an epileptic encephalopathy of infancy that exhibits variable clinical severity…”
Get full text

Late Sodium Current Promotes Ventricular Arrhythmia in Epilepsy-Related Sudden Death by George, Alfred L.

“…[Display omitted]…”
Get full text

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders by Berg, Anne T, Thompson, Christopher H, Myers, Leah Schust, Anderson, Erica, Evans, Lindsey, Kaiser, Ariela J E, Paltell, Katherine, Nili, Amanda N, DeKeyser, Jean-Marc L, Abramova, Tatiana V, Nesbitt, Gerry, Egan, Shawn M, Vanoye, Carlos G, George, Jr, Alfred L

“…SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel Nav1.2 are rare, with clinically heterogeneous expressions that…”
Get full text

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome by CROTTI, Lia, MONTI, Maria Cristina, INSOLIA, Roberto, PELJTO, Anna, GOOSEN, Althea, BRINK, Paul A, GREENBERG, David A, SCHWARTZ, Peter J, GEORGE, Alfred L

“…In congenital long-QT syndrome (LQTS), a genetically heterogeneous disorder that predisposes to sudden cardiac death, genetic factors other than the primary…”
Get full text