Publications by authors named "Fumika Yokoi"
Background: Long QT syndrome type 3 (LQT3) is caused by gain-of-function mutations in the gene, which encodes the α subunit of the cardiac voltage-gated sodium channel. LQT3 patients present bradycardia and lethal arrhythmias during rest or sleep. Further, the efficacy of β-blockers, the drug used for their treatment, is uncertain.
View Article and Find Full Text PDFBackground: Nestin, which was originally described as a neural crest stem cell marker, is known to be expressed in bulge follicle cells of human, canine and murine anagen hairs. However, the capacity of nestin-expressing cells to differentiate into the components of the hair follicle or the epidermis has been insufficiently investigated.
Hypothesis/objectives: To determine whether nestin-expressing cells are capable of differentiating into keratinocytes.
Article Synopsis
- - The study focuses on Long QT syndrome type 1 (LQT1) caused by a specific mutation in the KCNQ1 gene, which affects cardiac potassium channels, and investigates how this mutation leads to abnormal splicing in heart cells derived from a patient's stem cells.
- - Researchers created patient-specific heart cells (hiPSC-CMs) to analyze the mutations, discovering seven complex RNA variants. They performed electrophysiology tests which showed that the mutated cells had altered responses to certain drugs, leading to longer action potential durations compared to control cells.
- - The findings reveal that the mutation in KCNQ1 not only affects RNA splicing but also influences the electrical activity of heart cells, highlighting the potential for targeted therapies that
Background: TheSCN5Agene encodes the α subunit of the cardiac voltage-gated sodium channel, Na1.5. The missense mutation, D1275N, has been associated with a range of unusual phenotypes associated with reduced Na1.
View Article and Find Full Text PDFCalmodulin is a ubiquitous Ca2+ sensor molecule encoded by three distinct calmodulin genes, CALM1-3. Recently, mutations in CALM1-3 have been reported to be associated with severe early-onset long-QT syndrome (LQTS). However, the underlying mechanism through which heterozygous calmodulin mutations lead to severe LQTS remains unknown, particularly in human cardiomyocytes.
View Article and Find Full Text PDF