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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

hum0411-v1Release info

Latest

Research title

Investigation of molecular diagnosis by molecular biological analysis using next-generation sequencer for actionable endocrine diseases (including neoplastic diseases)

Research overview

Aims
Elucidation of the molecular mechanism of fructose-1,6-bisphosphatase (FBPase) deficiency
Methods
Whole exome analysis using DNAs extracted from the peripheral blood cells
Participants/materials
FBPase deficiency patient and its family member (father, mother, sister)
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000754NGS (Exome)
  • WES
Controlled-access (Type I)2023-07-18

Data provider

Principal investigator
Tomoaki Tanaka
Affiliation
Department of Molecular Diagnosis, Graduate School of Medicine, Chiba University

Research projects

NameURL
Molecular Pathophysiology of FBPase Deficiency / Tomoaki Tanaka Laboratory
N/A

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research (B)
Elucidation of molecular pathogenesis of obesity and diabetes via mitochondrial complex and its regulatory mechanism analyses
  • 19H03708
KAKENHI Grant-in-Aid for Challenging Research (Pioneering)
Elucidation of the mechanism of liver glucose metabolism-immune linkage by single cell analysis and spatial transcriptomics
  • 23K17429

Related publications

TitleDOIDataset ID
Identification of genotype-biochemical phenotype correlations associated with fructose1,6-bisphosphatase deficiency
https://doi.org/10.1038/s42003-023-05160-y (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.