Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Keio Mutation Database (KMDB) for human disease gene mutations.

S Minoshima1, S Mitsuyama, S Ohno

  • 1Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

Nucleic Acids Research
|December 11, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Hepatocyte growth factor is linked by O-glycosylated oligosaccharide on the alpha chain.

Biochemical and biophysical research communications·1992
Same author

Overproduction of biologically-active human nerve growth factor in Escherichia coli.

Bioscience, biotechnology, and biochemistry·1992
Same author

Electrophysiological study of neurotropin-induced responses in guinea pig hypothalamic neurons.

Brain research bulletin·1992
Same author

[Burkitt's lymphoma diagnosed by molecular analysis of DNA from malignant cells in ascites].

[Rinsho ketsueki] The Japanese journal of clinical hematology·1992
Same author

[A case of periodic ataxia].

Rinsho shinkeigaku = Clinical neurology·1992
Same author

[A case of traumatic right diaphragmatic hernia diagnosed by pleurography].

Kyobu geka. The Japanese journal of thoracic surgery·1992

The Keio Mutation Database (KMDB) now offers a centralized resource for human disease-causing gene mutations. This database provides graphical data analysis for 38 genes linked to 35 diseases affecting the eye, heart, ear, and brain.

Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Informatics

Background:

  • Genetic mutations are key drivers of numerous human diseases.
  • Comprehensive databases are essential for understanding genotype-phenotype correlations.
  • Existing mutation data is often fragmented, hindering research.

Purpose of the Study:

  • To establish a centralized, user-friendly database for human disease-causing gene mutations.
  • To provide advanced data analysis and visualization tools for mutation data.
  • To facilitate research into genetic disorders affecting critical organs.

Main Methods:

  • Development and implementation of the Keio Mutation Database (KMDB).
  • Utilization of MutationView database software for data compilation and graphical analysis.

Related Experiment Videos

  • Inclusion of mutation data for 38 genes associated with 35 distinct diseases.

    • Main Results:

    • Successful construction and launch of the Keio Mutation Database (KMDB).
    • KMDB currently houses mutation data for 38 genes and 35 diseases.
    • The database offers graphical data presentation and analysis capabilities.

    Conclusions:

    • The KMDB serves as a valuable resource for researchers studying genetic diseases.
    • Enhanced data accessibility and visualization can accelerate the understanding of mutation impacts.
    • The database supports research in ophthalmology, cardiology, neurology, and audiology.