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 Concept Videos

Immunoglobulin-like Cell Adhesion Molecules01:31

Immunoglobulin-like Cell Adhesion Molecules

4.6K
Immunoglobulin-like cell adhesion molecules or Ig-CAMs are a versatile group of cell surface glycoproteins belonging to the immunoglobulin protein superfamily. Ig-CAMs possess the characteristic immunoglobulin protein domains and other domains such as the fibronectin type III domain. The Ig domains are glycosylated to varying degrees in different Ig-CAMs.
Ig-CAMs exhibit either homophilic binding (to other Ig-CAMs) or heterophilic binding (to other ligands such as integrins). While most Ig-CAMs...
4.6K
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

24
Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
24
Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

775
Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
775
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

800
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
800

You might also read

Related Articles

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

Sort by
Same author

Proline-Rich Transmembrane Protein 2 Is Variably Expressed Across Excitatory and Inhibitory Neurons in Mouse Motor Circuits.

The Journal of comparative neurology·2026
Same author

The homozygous founder Psmb8 variant of Nakajo-Nishimura syndrome/proteasome-associated autoinflammatory syndrome causes panniculitis-associated lipoatrophy and a shortened lifespan in mice.

Scientific reports·2026
Same author

Genes with altered expression by 5-Aza treatment in myeloid leukemia cells through methylation in intron 1.

Leukemia research·2025
Same author

Familial Cases of Aicardi-Goutières Syndrome Presenting With Cutaneous Manifestations of Facial Lipodystrophy and Puffy Digits.

The Journal of dermatology·2025
Same author

Discrepancies Between Pathological Distinction and DNA Genotyping in the Diagnosis of Hydatidiform Moles.

Cureus·2025
Same author

Improved transcriptome assembly and functional annotation of Pleurodeles waltl for regeneration research.

PloS one·2025

Related Experiment Video

Updated: Mar 28, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

16.6K

[Camurati-Engelmann disease].

Akira Kinoshita

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |December 16, 2015
    PubMed
    Summary

    Camurati-Engelmann disease (CAEND) is a rare bone disorder caused by mutations in the transforming growth factor-β1 gene (TGFB1). Researchers developed patient-derived iPS cells to study CAEND and find new treatments.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Rare Diseases

    Context:

    • Camurati-Engelmann disease (CAEND) is a rare autosomal dominant progressive diaphyseal dysplasia.
    • Characterized by hyperostosis and sclerosis of long bone diaphyses.
    • Estimated 50-60 patients in Japan.

    Purpose:

    • Investigate the genetic basis of CAEND.
    • Establish a cellular model for CAEND research.
    • Develop novel therapeutic agents for CAEND.

    Summary:

    • Transforming growth factor-β1 gene (TGFB1) mutations, particularly in the latency associated peptide (LAP) domain, cause CAEND by destabilizing the TGF-β1 complex and potentially hyperactivating the TGF signaling pathway.
    • Attempts to create mouse models using gene-targeting and CRISPR/Cas9 were unsuccessful due to technical challenges.

    More Related Videos

    Quail Chorioallantoic Membrane - A Tool for Photodynamic Diagnosis and Therapy
    07:43

    Quail Chorioallantoic Membrane - A Tool for Photodynamic Diagnosis and Therapy

    Published on: April 28, 2022

    3.5K
    The In ovo CAM-assay as a Xenograft Model for Sarcoma
    12:44

    The In ovo CAM-assay as a Xenograft Model for Sarcoma

    Published on: July 17, 2013

    26.5K

    Related Experiment Videos

    Last Updated: Mar 28, 2026

    A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
    07:50

    A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

    Published on: September 20, 2018

    16.6K
    Quail Chorioallantoic Membrane - A Tool for Photodynamic Diagnosis and Therapy
    07:43

    Quail Chorioallantoic Membrane - A Tool for Photodynamic Diagnosis and Therapy

    Published on: April 28, 2022

    3.5K
    The In ovo CAM-assay as a Xenograft Model for Sarcoma
    12:44

    The In ovo CAM-assay as a Xenograft Model for Sarcoma

    Published on: July 17, 2013

    26.5K
  • CAEND patient-derived induced pluripotent stem cells (iPSCs) were successfully established as an alternative research model.

    • Impact:

    • Patient-derived iPSCs provide a valuable platform for understanding CAEND pathogenesis.
    • This research paves the way for developing targeted therapies for CAEND.
    • Advances understanding of TGF-β1 signaling in skeletal development and disease.