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

The Human Collagen Mutation Database 1998

R Dalgleish1

  • 1Department of Genetics, University of Leicester, University Road, Leicester LE1 7RH, UK. ray@le.ac.uk

Nucleic Acids Research
|February 21, 1998
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

Microsatellite variation of ESR1, ESR2, and AR in Serbian women with primary ovarian insufficiency.

Climacteric : the journal of the International Menopause Society·2018
Same author

Lack of association between ESR1 gene polymorphisms and premature ovarian failure in Serbian women.

Climacteric : the journal of the International Menopause Society·2013
Same author

Boning up on mutations: assessing the significance of candidate disease-causing DNA sequence variation.

Genetics and molecular research : GMR·2011
Same author

Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form.

Clinical science (London, England : 1979)·1999
Same author

The human type I collagen mutation database.

Nucleic acids research·1997
Same author

Assignment of secreted phosphoprotein 24 (SPP2) to human chromosome band 2q37-->qter by in situ hybridization.

Cytogenetics and cell genetics·1997
Same journal

Correction to 'scSuperAnnotator: A platform for benchmarking comparison and visualizing automated cellular annotation methods for scRNA-seq data'.

Nucleic acids research·2026
Same journal

Correction to 'Differentiable partition function calculation for RNA'.

Nucleic acids research·2026
Same journal

Deployment of non-canonical splicing in tunicate genomes is mediated by divergent U2AF function and changing m6A modification in U1 and U6 snRNA.

Nucleic acids research·2026
Same journal

Bacillus subtilis DnaB forms multiple protein-protein interactions essential for DNA replication initiation.

Nucleic acids research·2026
Same journal

Multiple forms of protein-protein and DNA binding are exhibited by BrxC from the BREX phage restriction system.

Nucleic acids research·2026
Same journal

Biosynthesis of glycosylated 5-hydroxycytosine in the DNA of diverse viruses.

Nucleic acids research·2026
See all related articles

Collagens are diverse extracellular matrix proteins. Mutations in collagen genes cause heritable connective tissue disorders, with data for types I and III available online.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Collagens constitute a large, diverse protein family integral to the extracellular matrix.
  • All 19 known collagen types share triple-helical domains but vary in size and globular domain characteristics.

Purpose of the Study:

  • To present mutation data for collagen types I and III.
  • To highlight the role of collagen mutations in heritable connective tissue defects.

Main Methods:

  • Data compilation and presentation of collagen mutation information.
  • Web-based accessibility of mutation data.

Main Results:

  • Detailed mutation data for collagen types I and III are provided.
  • The study establishes an online resource for collagen mutation information.

Related Experiment Videos

Conclusions:

  • Collagen mutations are linked to various heritable connective tissue disorders.
  • Accessible online databases are crucial for studying collagenopathies and genetic defects.