NBDC Research ID: hum0514.v1
SUMMARY
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
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| JGAS000814 | NGS (RNA-seq) | Controlled-access (Type I) | 2025/09/22 |
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MOLECULAR DATA
| Participants/Materials: |
DM1 (ICD10: G71.1): 11 cases 9 control patients frozen postmortem liver tissue: total 20 samples |
| Targets | RNA-seq |
| Target Loci for Capture Methods | - |
| Platform | MGI [DNBSEQ-G400] |
| Library Source | RNAs extracted from frozen postmortem liver tissue |
| Cell Lines | - |
| Library Construction (kit name) | TruSeq Stranded mRNA Sample Prep Kit |
| Fragmentation Methods | - |
| Spot Type | Paired-end |
| Read Length (without Barcodes, Adaptors, Primers, and Linkers) | 100 bp |
| Japanese Genotype-phenotype Archive Dataset ID | JGAD000956 |
| Total Data Volume | 155.4 GB（fastq、tab） |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Masanori P Takahashi
Affiliation: Department of Clinical Laboratory and Biomedical Sciences, Faculty of Medicine, Clinical Neurophysiology, Osaka University
Project / Group Name: -
Funds / Grants (Research Project Number):
| Name | Title | Project 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 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | Transcriptome alterations underlying metabolic dysfunction and liver disease in myotonic dystrophy type 1 | doi: 10.1093/hmg/ddaf124 | JGAD000956 |
USRES (Controlled-access Data)
| Principal Investigator | Affiliation | Country/Region | Research Title | Data in Use (Dataset ID) | Period of Data Use |
|---|---|---|---|---|---|
