Rebecca Martínez-Moreno
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View article: Generation of the induced pluripotent stem cell line ESi108-A from a familial atrial fibrillation patient
Generation of the induced pluripotent stem cell line ESi108-A from a familial atrial fibrillation patient Open
Tissue-specific cells differentiated from patient-derived human induced pluripotent stem cells (hiPSC) are a relevant cellular model to study several diseases. We obtained a hiPSC line from skin fibroblasts of a patient affected by familia…
View article: Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A
Generation of four induced pluripotent stem cell lines from a family harboring a single nucleotide variant in SCN5A Open
View article: Generation of an induced pluripotent stem cell line from a healthy Caucasian male
Generation of an induced pluripotent stem cell line from a healthy Caucasian male Open
The effects of genetic mutations on protein function can be studied in a physiologically relevant environment using tissue-specific cells differentiated from patient-derived induced pluripotent stem cells (iPSC). However, it is crucial to …
View article: Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle
Epigenetic Changes Governing Scn5a Expression in Denervated Skeletal Muscle Open
The SCN5A gene encodes the α-subunit of the voltage-gated cardiac sodium channel (NaV1.5), a key player in cardiac action potential depolarization. Genetic variants in protein-coding regions of the human SCN5A have been largely associated …
View article: An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders
An SCN1B Variant Affects Both Cardiac-Type (NaV1.5) and Brain-Type (NaV1.1) Sodium Currents and Contributes to Complex Concomitant Brain and Cardiac Disorders Open
Voltage-gated sodium (NaV) channels are transmembrane proteins that initiate and propagate neuronal and cardiac action potentials. NaV channel β subunits have been widely studied due to their modulatory role. Mice nul…
View article: Comparative Study of the Effects of an SCN5A Mutation within a Family Diagnosed with Brugada Syndrome using iPS-CM
Comparative Study of the Effects of an SCN5A Mutation within a Family Diagnosed with Brugada Syndrome using iPS-CM Open
View article: CPVT-Associated Mutation P.G357S-RYR2 Promotes a Gain of Function in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes (iPS-CM)
CPVT-Associated Mutation P.G357S-RYR2 Promotes a Gain of Function in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes (iPS-CM) Open
View article: β-Adrenergic Pathway is Enhanced by Hormone-Induced Maturation of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (iPS-CM)
β-Adrenergic Pathway is Enhanced by Hormone-Induced Maturation of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (iPS-CM) Open
View article: Cardiac Sodium Current is Severely Impaired in Induced Pluripotent Stem Cell-Derived Cardiomyocytes from Brugada Syndrome Patients
Cardiac Sodium Current is Severely Impaired in Induced Pluripotent Stem Cell-Derived Cardiomyocytes from Brugada Syndrome Patients Open
View article: An SCN1B Variant Found in a Child Diagnosed with Epilepsy and Brugada Syndrome Modifies Brain-Type (NaV1.1) and Cardiac-Type (NaV1.5) Sodium Currents
An SCN1B Variant Found in a Child Diagnosed with Epilepsy and Brugada Syndrome Modifies Brain-Type (NaV1.1) and Cardiac-Type (NaV1.5) Sodium Currents Open
View article: Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient
Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient Open
Brugada syndrome predisposes to sudden death due to disruption of normal cardiac ion channel function, yet our understanding of the underlying cellular mechanisms is incomplete. Commonly used heterologous expression models lack many charac…