Fabiana S. Scornik
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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: 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: Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia Open
View article: Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome
Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome Open
It was hypothesized that the studied variants are not the primary cause of BrS in these patients. However, because small functional effects of these β-subunit variants can be discriminated, they might contribute to the BrS phenotype and be…