Publications by authors named "Kobe Ikegami"
Article Synopsis
- The study investigates the link between RNA alternative splicing abnormalities and physical function in children with congenital myotonic dystrophy (CDM), a severe form of myotonic dystrophy type 1 (DM1).
- Researchers analyzed data from 82 participants, including adults with DM1 and children with CDM, assessing muscle biopsies, motor function, strength, and myotonia.
- Results showed a significant correlation between myotonia and RNA mis-splicing in all DM1 individuals, while motor performance and strength were associated with splicing dysregulation, aiding future clinical trial designs for DM1 and CDM.
Article Synopsis
- - The study investigates the link between RNA alternative splicing dysregulation, a key feature of myotonic dystrophy type 1 (DM1), and physical function in children with congenital myotonic dystrophy (CDM), a severe form of the disease.
- - Researchers combined data from 82 participants (42 adults with DM1 and 40 children with CDM) to analyze muscle biopsies and assess their myotonia, motor function, and strength, finding significant correlations between muscle performance and alternative splicing measures.
- - The results indicate strong associations between RNA mis-splicing, muscle strength, and motor performance across all DM1 subjects, helping to develop predictive models that could guide future clinical trials for treating DM
() chromosomes are selfish -chromosomes that distort Mendelian segregation and are commonly associated with inversions. These chromosomal rearrangements suppress recombination with Standard () -chromosomes and are hypothesized to maintain multiple alleles important for distortion in a single large haplotype. Here, we conduct a multifaceted study of the multiply inverted chromosome to understand the evolutionary history, genetic architecture, and present-day dynamics that shape this enigmatic selfish chromosome.
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