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

Pathogenic mechanisms in osteochondrodysplasias.

V Stanescu, R Stanescu, P Maroteaux

    The Journal of Bone and Joint Surgery. American Volume
    |July 1, 1984
    PubMed
    Summary

    This study reveals specific biochemical defects in various osteochondrodysplasias, identifying abnormal proteoglycan and collagen processing. Understanding these mechanisms aids in diagnosing and classifying these rare skeletal disorders.

    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

    Mental Disorders in Chronic Liver Diseases with Viral Etiology.

    Current health sciences journal·2018
    Same author

    [Hypophosphatasia].

    Pathologie et biologie·2014
    Same author

    [Technic and schedule of vaccinations].

    Revue medicale de France·2014
    Same author

    Cerebral microvascular changes induced by rich cholesterol and saturated fatty acid diet in Wistar rats.

    Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2013
    Same author

    Hypoxia induced VEGF synthesis in visceral adipose depots of obese diabetic patients.

    Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2013
    Same author

    Lability of potentially toxic elements in soils affected by smelting activities.

    Chemosphere·2012

    Area of Science:

    • Skeletal biology
    • Biochemistry
    • Genetics

    Background:

    • Osteochondrodysplasias are a group of rare genetic skeletal disorders.
    • Understanding their molecular pathogenesis is crucial for diagnosis and treatment.

    Purpose of the Study:

    • To investigate the underlying biochemical defects in various forms of osteochondrodysplasias.
    • To correlate specific molecular abnormalities with distinct clinical phenotypes.

    Main Methods:

    • Histochemical, immunohistochemical, electron-microscopic, and microchemical analyses of cartilage growth plates.
    • Biochemical studies including gel electrophoresis and collagen structural analysis.

    Main Results:

    • Pseudoachondroplasia: abnormal proteoglycan core protein accumulation and processing defects.
    • Kniest syndrome: abnormal proteoglycan metabolism.
    • Diastrophic dysplasia: structural alterations in type-II collagen.
    • Other dysplasias showed lipid or glycoprotein accumulation, or multinucleated chondrocytes.

    Conclusions:

    • Specific biochemical defects identified in multiple osteochondrodysplasias.
    • Findings contribute to improved classification, diagnosis, and understanding of endochondral growth.

    Related Experiment Videos