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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
We apologize for any inconvenience this may cause and appreciate your understanding.

We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0514-v1Release info

Latest

Research title

Analysis of skeletal muscle messenger RNA expression to elucidate pathophysiology of neuromuscular diseases

Research overview

Aims
Using different tissues, including skeletal muscle, from patients with neuromuscular diseases, we are analysing the expression levels and splicing patterns of several messenger RNAs thought to be involved in the pathogenesis. By studying disease-related differences, this research aims to contribute to a deeper understanding of disease mechanisms, accurate diagnosis and the identification of therapeutic targets.
Methods
RNA-seq
Participants/materials
11 myotonic dystrophy type 1 (DM1) patients, 9 control patients
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000956NGS (RNA-seq)
  • RNA-seq
Controlled-access (Type I)2025-09-26

Data provider

Principal investigator
Masanori P Takahashi
Affiliation
Department of Clinical Laboratory and Biomedical Sciences, Faculty of Medicine, Clinical Neurophysiology, Osaka University

Research projects

No research projects.

Grants

NameTitleProject number
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Natural history and biomarker study of myotonic dystrophy- international harmonization and expansion to all ages including congenital form
  • JP25ek0109619
Practical Research Project for Rare/Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Natural history and biomarker study of myotonic dystrophy in conjunction with registry
  • JP22ek0109474

Related publications

TitleDOIDataset ID
Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1
https://doi.org/10.1093/hmg/ddaf124 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.