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

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.9K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.9K
Liver Histology01:27

Liver Histology

974
The microscopic anatomy of the liver is a complex and intricate system that comprises numerous structural units known as liver lobules, each of which is comparable in size to a sesame seed. These hexagonal structures consist of plates of liver cells or hepatocytes, which are characterized by their versatility and abundance of cellular apparatus like rough and smooth ER, Golgi apparatus, peroxisomes, and mitochondria.
Hepatocytes perform a variety of essential functions. They secrete...
974
Transcytosis of IgG01:15

Transcytosis of IgG

2.8K
Transcytosis is the process in which molecules are internalized by endocytosis, transported across the cell, and released through exocytosis from the opposite end of the cell. Molecules such as insulin, immunoglobulins, and certain nutrients are transferred through the recycling endosomes by recycling and transcytosis.
IgG molecules from a mother undergo transcytosis starting around 13 weeks of gestation. The amount of IgG transferred and entering the fetal blood circulation increases with...
2.8K
EPS and iPS Cells in Disease Research01:21

EPS and iPS Cells in Disease Research

2.8K
Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...
2.8K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

304
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
304
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

17
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
17

You might also read

Related Articles

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

Sort by
Same author

Diagnostic impact of 18F-FDG PET/MRI over PET/CT in histiocytoses: a prospective comparative study.

European journal of nuclear medicine and molecular imaging·2026
Same author

Exploring the strengths and limitations of AI-driven variant prioritization versus manual curation in inborn errors of immunity.

Frontiers in genetics·2026
Same author

Ocular adnexa follicular lymphoma: clinicopathological study of 23 patients.

Virchows Archiv : an international journal of pathology·2026
Same author

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations.

Blood advances·2025
Same author

Common variable immunodeficiency.

Medicina clinica·2025
Same author

Prevention of Tuberculosis in Patients Treated With Biological Therapies: 20 Years' Experience in a Specialized Tuberculosis Clinic in a Low-prevalence Country.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America·2025

Related Experiment Video

Updated: Jul 28, 2025

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation
09:43

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation

Published on: January 14, 2014

8.1K

[Histiocytosis].

Gemma Rocamora-Blanch1, Fina Climent2, Xavier Solanich1

  • 1Servicio de Medicina Interna, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Barcelona, España; Instituto de Investigación Biomédica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, España.

Medicina Clinica
|June 1, 2023
PubMed
Summary
This summary is machine-generated.

Histiocytosis involves rare inflammatory diseases with variable symptoms. Recent research identifies mutations activating MAPK/ERK and PI3K/AKT pathways, crucial for understanding Langerhans Cell Histiocytosis, Erdheim-Chester Disease, and Rosai-Dorfman Disease.

Keywords:
BRAF V600EErdheim-ChesterHistiocitosisHistiocytosisLangerhansRosai-Dorfman

More Related Videos

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.0K
Organotypic Hippocampal Slice Cultures As a Model to Study Neuroprotection and Invasiveness of Tumor Cells
07:48

Organotypic Hippocampal Slice Cultures As a Model to Study Neuroprotection and Invasiveness of Tumor Cells

Published on: August 27, 2017

13.0K

Related Experiment Videos

Last Updated: Jul 28, 2025

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation
09:43

Primary Orthotopic Glioma Xenografts Recapitulate Infiltrative Growth and Isocitrate Dehydrogenase I Mutation

Published on: January 14, 2014

8.1K
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.0K
Organotypic Hippocampal Slice Cultures As a Model to Study Neuroprotection and Invasiveness of Tumor Cells
07:48

Organotypic Hippocampal Slice Cultures As a Model to Study Neuroprotection and Invasiveness of Tumor Cells

Published on: August 27, 2017

13.0K

Area of Science:

  • Rare Diseases
  • Immunology
  • Oncology

Background:

  • Histiocytosis encompasses rare disorders marked by monocyte/macrophage cell accumulation and inflammation.
  • Clinical presentations range from mild, single-organ involvement to severe, life-threatening multisystem disease.
  • Diagnosis relies on clinical, radiological, and pathological findings, with biopsy recommended for therapeutic guidance.

Purpose of the Study:

  • To review the current understanding of histiocytosis, focusing on specific subtypes.
  • To highlight recent discoveries regarding molecular pathways involved in histiocytosis pathogenesis.
  • To emphasize the diagnostic and therapeutic implications of histiocytosis.

Main Methods:

  • Literature review focusing on histiocytosis, particularly Langerhans Cell Histiocytosis, Erdheim-Chester Disease, and Rosai-Dorfman Disease.
  • Analysis of recent findings on genetic mutations and cellular signaling pathways.
  • Synthesis of diagnostic criteria and therapeutic considerations.

Main Results:

  • Identification of specific mutations in affected tissues.
  • Demonstration of MAPK/ERK and PI3K/AKT pathway activation in variable proportions across histiocytosis types.
  • Recognition of the diagnostic and therapeutic importance of tissue biopsy.

Conclusions:

  • Histiocytosis pathogenesis is linked to specific molecular pathway activations.
  • Understanding these pathways is critical for targeted therapies in rare histiocytic disorders.
  • Further research into these mutations may lead to improved diagnostic and treatment strategies.