Publications
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“Ethnic and racial differences in Asian populations with ion channelopathies associated with sudden cardiac death.”, Front Cardiovasc Med, vol. 10, p. 1253479, 2023.
“Generation of control iPSC lines CBRCULi008-A and CBRCULi009-A derived from lymphoblastoid cell lines.”, Stem Cell Res, vol. 71, p. 103168, 2023.
“Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines.”, Stem Cell Res, vol. 67, p. 103037, 2023.
“Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A).”, Stem Cell Res, vol. 71, p. 103148, 2023.
“Optical Mapping of Cardiomyocytes in Monolayer Derived from Induced Pluripotent Stem Cells.”, Cells, vol. 12, no. 17, 2023.
“Pathophysiology of Ca1.3 L-type calcium channels in the heart.”, Front Physiol, vol. 14, p. 1144069, 2023.
“Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1.”, Gene Ther, vol. 29, no. 12, pp. 698-709, 2022.
“Combining NGN2 programming and dopaminergic patterning for a rapid and efficient generation of hiPSC-derived midbrain neurons.”, Sci Rep, vol. 12, no. 1, p. 17176, 2022.
“De novo Y1460C missense variant in Na1.1 impedes the pore region and results in epileptic encephalopathy.”, Sci Rep, vol. 12, no. 1, p. 17182, 2022.
“Editorial: Structure Related Druggability of Voltage-Gated Sodium and Calcium Ion-Channels to Treat Diseases.”, Front Pharmacol, vol. 13, p. 947511, 2022.
“Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1.”, Hum Gene Ther, vol. 33, no. 15-16, pp. 810-820, 2022.
“Genetic associations of protein-coding variants in human disease.”, Nature, vol. 603, no. 7899, pp. 95-102, 2022.
“NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis.”, eNeuro, vol. 9, no. 2, 2022.
“Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death.”, J Am Heart Assoc, vol. 11, no. 6, p. e023446, 2022.
“Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.”, Int J Mol Sci, vol. 23, no. 21, 2022.
“-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.”, J Neurophysiol, vol. 127, no. 5, pp. 1388-1397, 2022.
“Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy.”, Neurobiol Dis, vol. 160, p. 105532, 2021.
“The myocardial and neuronal infectivity of SARS-CoV-2 and detrimental outcomes.”, Can J Physiol Pharmacol, vol. 99, no. 11, pp. 1128-1136, 2021.
“Na1.5 knockout in iPSCs: a novel approach to study Na1.5 variants in a human cardiomyocyte environment.”, Sci Rep, vol. 11, no. 1, p. 17168, 2021.
, “Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State.”, CJC Open, vol. 3, no. 3, pp. 256-266, 2021.
, “R1617Q epilepsy mutation slows Na 1.6 sodium channel inactivation and increases the persistent current and neuronal firing.”, J Physiol, vol. 599, no. 5, pp. 1651-1664, 2021.
, “Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.”, iScience, vol. 23, no. 10, p. 101552, 2020.
, “Voltage-gated sodium channels from the bees Apis mellifera and Bombus terrestris are differentially modulated by pyrethroid insecticides.”, Sci Rep, vol. 9, no. 1, p. 1078, 2019.
, “A204E mutation in Na1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.”, Sci Rep, vol. 8, no. 1, p. 16681, 2018.
, “Interleukin-6 inhibition of hERG underlies risk for acquired long QT in cardiac and systemic inflammation.”, PLoS One, vol. 13, no. 12, p. e0208321, 2018.
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