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

Collagen genes: mutations affecting collagen structure and expression

W G Cole1

  • 1Division of Orthopaedics, Hospital for Sick Children, Toronto, Ontario, Canada.

Progress in Nucleic Acid Research and Molecular Biology
|January 1, 1994
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

Acute osteomyelitis overview.

Orthopedics·2014
Same author

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

European journal of human genetics : EJHG·2011
Same author

Accident prevention.

American journal of public health and the nation's health·2010
Same author

Preferences for life-sustaining treatments in advance care planning and surrogate decision making.

Journal of palliative medicine·2005
Same author

A search for the gene(s) predisposing to idiopathic clubfoot.

Clinical genetics·2005
Same author

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

Clinical genetics·2004
Same journal

Molecular colony technique: a new tool for biomedical research and clinical practice.

Progress in nucleic acid research and molecular biology·2008
Same journal

Molecular computing with deoxyribozymes.

Progress in nucleic acid research and molecular biology·2008
Same journal

Site-directed spin labeling studies on nucleic acid structure and dynamics.

Progress in nucleic acid research and molecular biology·2008
Same journal

DNA polymerase epsilon: a polymerase of unusual size (and complexity).

Progress in nucleic acid research and molecular biology·2008
Same journal

RNA structure and modeling: progress and techniques.

Progress in nucleic acid research and molecular biology·2008
Same journal

Applications of fluorescence correlation spectroscopy to the study of nucleic acid conformational dynamics.

Progress in nucleic acid research and molecular biology·2008
See all related articles

Discovering new collagen genes and studying connective tissue diseases are key. Research using transgenic mice and understanding gene regulation will advance treatments for genetic collagen disorders.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Collagen genes are crucial for connective tissue structure and function.
  • Mutations in collagen genes lead to various heritable connective tissue diseases.
  • Understanding these genetic underpinnings is vital for developing effective therapies.

Purpose of the Study:

  • To explore the identification of novel collagen genes.
  • To investigate the link between collagen mutations and connective tissue disorders.
  • To advance therapeutic strategies for collagen-related diseases.

Main Methods:

  • Coordinated study of naturally occurring and induced heritable connective tissue diseases.
  • Utilizing transgenic mouse models to study human collagen mutations.

Related Experiment Videos

  • Investigating the transcriptional regulation of collagen genes.

    • Main Results:

    • Anticipation of identifying more collagen genes and associated diseases.
    • Demonstration of collagen mutations as a cause of heritable connective tissue diseases.
    • Transgenic studies will elucidate the phenotypic outcomes of specific collagen gene mutations.

    Conclusions:

    • Further research into collagen genes and their mutations will expand our understanding of connective tissue diseases.
    • Transgenic models are essential tools for studying disease mechanisms and predicting phenotypes.
    • Understanding gene regulation offers potential for therapeutic interventions in collagen disorders.