Zobrazeno 1 - 10
of 168
pro vyhledávání: '"Lori L. Isom"'
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-21 (2023)
Abstract Voltage gated sodium channels (VGSCs) are required for action potential initiation and propagation in mammalian neurons. As with other ion channel families, VGSC density varies between neurons. Importantly, sodium current (I Na ) density var
Externí odkaz:
https://doaj.org/article/0bcb2363d1794048ae424adcff6473c4
Autor:
Hao Liu, René N. Caballero-Florán, Ty Hergenreder, Tao Yang, Jacob M. Hull, Geng Pan, Ruonan Li, Macy W. Veling, Lori L. Isom, Kenneth Y. Kwan, Z. Josh Huang, Peter G. Fuerst, Paul M. Jenkins, Bing Ye
Publikováno v:
PLoS Biology, Vol 21, Iss 4 (2023)
Down syndrome (DS) is caused by the trisomy of human chromosome 21 (HSA21). A major challenge in DS research is to identify the HSA21 genes that cause specific symptoms. Down syndrome cell adhesion molecule (DSCAM) is encoded by a HSA21 gene. Previou
Externí odkaz:
https://doaj.org/article/74b66cc531524704bb62e3a0ac57b5a2
Autor:
Roberto Ramos-Mondragón, Andrey Lozhkin, Aleksandr E. Vendrov, Marschall S. Runge, Lori L. Isom, Nageswara R. Madamanchi
Publikováno v:
Antioxidants, Vol 12, Iss 10, p 1833 (2023)
Atrial fibrillation (AF) is the most common type of cardiac arrhythmia and its prevalence increases with age. The irregular and rapid contraction of the atria can lead to ineffective blood pumping, local blood stasis, blood clots, ischemic stroke, an
Externí odkaz:
https://doaj.org/article/e3407661e46b4a829b9b7196e0ad1637
Autor:
Yao-Chang Tsan, Samuel J. DePalma, Yan-Ting Zhao, Adela Capilnasiu, Yu-Wei Wu, Brynn Elder, Isabella Panse, Kathryn Ufford, Daniel L. Matera, Sabrina Friedline, Thomas S. O’Leary, Nadab Wubshet, Kenneth K. Y. Ho, Michael J. Previs, David Nordsletten, Lori L. Isom, Brendon M. Baker, Allen P. Liu, Adam S. Helms
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-16 (2021)
Investigations of human cardiac disease involving human pluripotent stem cell-derived cardiomyocytes are limited by the disorganized presentation of biomechanical cues resulting in cell immaturity. Here the authors develop a platform of micron-scale
Externí odkaz:
https://doaj.org/article/866175855d3a4449bdab9d5e10355c8b
Autor:
Andrey Lozhkin, Aleksandr E. Vendrov, R. Ramos-Mondragón, Chandrika Canugovi, Mark D. Stevenson, Todd J. Herron, Scott L. Hummel, C Alberto Figueroa, Dawn E. Bowles, Lori L. Isom, Marschall S. Runge, Nageswara R. Madamanchi
Publikováno v:
Redox Biology, Vol 57, Iss , Pp 102474- (2022)
Diastolic dysfunction (DD) underlies heart failure with preserved ejection fraction (HFpEF), a clinical syndrome associated with aging that is becoming more prevalent. Despite extensive clinical studies, no effective treatment exists for HFpEF. Recen
Externí odkaz:
https://doaj.org/article/dc83512223294a7ca072f2906aa86579
Autor:
Roberto Ramos-Mondragon, Nnamdi Edokobi, Samantha L. Hodges, Shuyun Wang, Alexandra A. Bouza, Chandrika Canugovi, Caroline Scheuing, Lena Juratli, William R. Abel, Sami F. Noujaim, Nageswara R. Madamanchi, Marschall S. Runge, Luis F. Lopez-Santiago, Lori L. Isom
Publikováno v:
JCI Insight, Vol 7, Iss 10 (2022)
Loss-of-function (LOF) variants in SCN1B, encoding the voltage-gated sodium channel β1/β1B subunits, are linked to neurological and cardiovascular diseases. Scn1b-null mice have spontaneous seizures and ventricular arrhythmias and die by approximat
Externí odkaz:
https://doaj.org/article/d5c4382c17d04144bec174f8c5eb54a6
Autor:
Jacob M. Hull, Heather A. O’Malley, Chunling Chen, Yukun Yuan, Nicholas Denomme, Alexandra A. Bouza, Charles Anumonwo, Luis F. Lopez‐Santiago, Lori L. Isom
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2137-2149 (2020)
Abstract Objective Human variants in voltage‐gated sodium channel (VGSC) α and β subunit genes are linked to developmental and epileptic encephalopathies (DEEs). Inherited, biallelic, loss‐of‐function variants in SCN1B, encoding the β1/β1B
Externí odkaz:
https://doaj.org/article/34e03d65f7274edcbd5c7e0136263957
Autor:
Alec Aeby, Claudine Sculier, Alexandra A. Bouza, Brandon Askar, Damien Lederer, Anne‐Sofie Schoonjans, Marc Vander Ghinst, Berten Ceulemans, James Offord, Luis F. Lopez‐Santiago, Lori L. Isom
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2354-2367 (2019)
Abstract Objective Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits. Methods Here, we
Externí odkaz:
https://doaj.org/article/042278afa5c4482580133ac277176421
Autor:
Wandi Zhu, Wei Wang, Paweorn Angsutararux, Rebecca L. Mellor, Lori L. Isom, Jeanne M. Nerbonne, Jonathan R. Silva
Publikováno v:
JCI Insight, Vol 6, Iss 15 (2021)
Native myocardial voltage-gated sodium (NaV) channels function in macromolecular complexes comprising a pore-forming (α) subunit and multiple accessory proteins. Here, we investigated the impact of accessory NaVβ1 and NaVβ3 subunits on the functio
Externí odkaz:
https://doaj.org/article/3a1cd7dc535f4598ae819c3d1643d27f
Autor:
Heather A. O'Malley, Jacob M. Hull, Brittany C. Clawson, Chunling Chen, Gic Owens‐Fiestan, Margaret B. Jameson, Sara J. Aton, Jack M. Parent, Lori L. Isom
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1121-1126 (2019)
Abstract Pathogenic loss‐of‐function variants in SCN1B are linked to Dravet syndrome (DS). Previous work suggested that neuronal pathfinding defects underlie epileptogenesis and SUDEP in the Scn1b null mouse model of DS. We tested this hypothesis
Externí odkaz:
https://doaj.org/article/f5bde058212248008bc631fb1ce63f5d