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

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

5.6K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
5.6K
Erythropoiesis01:14

Erythropoiesis

6.8K
Red blood cells  (RBCs) transport oxygen to all body tissues. These cells survive only for 120 days and then need to be replenished. Erythropoiesis is the process of RBC production. In healthy individuals, erythropoiesis ensures all tissues are amply supplied with oxygen. In addition, blood loss due to injury leads to a drop in the physiological oxygen level that will cause erythropoiesis. Any defect in erythropoiesis leads to several physiological disorders, including thalassemia, anemia,...
6.8K
Erythropoiesis01:14

Erythropoiesis

4.1K
No description available
4.1K
Lifecycle of Erythrocytes01:22

Lifecycle of Erythrocytes

6.0K
Erythrocytes, also known as red blood cells, constantly move through blood capillaries. As a result, they damage their plasma membrane due to the continuous friction. Typically, after 100 to 120 days, erythrocytes become rigid and fragile as they wear out. As they pass through small vessels in the spleen and liver, they can get trapped and break apart into fragments.
The resident phagocytic macrophages deal with these damaged cells by engulfing them and separating their globin and heme groups....
6.0K
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

2.8K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
2.8K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K

You might also read

Related Articles

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

Sort by
Same author

Glyphosate, AMPA and glufosinate in soils and earthworms in a French arable landscape.

Chemosphere·2022
Same author

Genome-wide surveillance of transcription errors in response to genotoxic stress.

Proceedings of the National Academy of Sciences of the United States of America·2021
Same author

Patients with sciatica still experience pain and disability 5 years after surgery: A systematic review with meta-analysis of cohort studies.

European journal of pain (London, England)·2016
Same author

Tracking pan-continental trends in environmental contamination using sentinel raptors-what types of samples should we use?

Ecotoxicology (London, England)·2016
Same author

Fermentation performance of lactic acid bacteria in different lupin substrates-influence and degradation ability of antinutritives and secondary plant metabolites.

Journal of applied microbiology·2015
Same author

An overview of existing raptor contaminant monitoring activities in Europe.

Environment international·2014
Same journal

Epinastine inhibits eosinophil chemotaxis and adhesion molecules in atopic dermatitis.

Skin pharmacology and applied skin physiology·2003
Same journal

Role of isopropyl myristate, isopropyl alcohol and a combination of both in hydrocortisone permeation across the human stratum corneum.

Skin pharmacology and applied skin physiology·2003
Same journal

N-acetyltransferase 2 acetylation polymorphism: prevalence of slow acetylators does not differ between atopic dermatitis patients and healthy subjects.

Skin pharmacology and applied skin physiology·2003
Same journal

HaCaT cell proliferation influenced by melatonin.

Skin pharmacology and applied skin physiology·2003
Same journal

Detection of enhanced monohydroxyeicosatetraenoic acid and F2-isoprostane levels in human plasma samples after extracorporeal photoimmunotherapy.

Skin pharmacology and applied skin physiology·2003
Same journal

Hydrating effects of a corticoid oil formulation and its vehicle on human skin.

Skin pharmacology and applied skin physiology·2003
See all related articles

Related Experiment Video

Updated: Apr 3, 2026

Identification and Analysis of Mouse Erythroid Progenitors using the CD71/TER119 Flow-cytometric Assay
15:32

Identification and Analysis of Mouse Erythroid Progenitors using the CD71/TER119 Flow-cytometric Assay

Published on: August 5, 2011

34.3K

Congenital erythropoietic porphyria.

C Fritsch1, K Lang, K Bolsen

  • 1Departmentof Dermatology, Heinrich Heine University, Düsseldorf, Germany.

Skin Pharmacology and Applied Skin Physiology
|May 27, 1999
PubMed
Summary
This summary is machine-generated.

Congenital erythropoietic porphyria (CEP) is a rare genetic disorder causing porphyrin buildup, leading to severe skin photosensitivity and organ damage. Early diagnosis and sunlight avoidance are crucial for managing this debilitating condition.

More Related Videos

Induction of Eryptosis in Red Blood Cells Using a Calcium Ionophore
09:15

Induction of Eryptosis in Red Blood Cells Using a Calcium Ionophore

Published on: January 21, 2020

9.4K
Author Spotlight: Advancing Erythropoiesis Research - A Simplified Pipeline for Assessing Hematopoietic Stem Cell Function in Myelodysplastic Syndromes
08:53

Author Spotlight: Advancing Erythropoiesis Research - A Simplified Pipeline for Assessing Hematopoietic Stem Cell Function in Myelodysplastic Syndromes

Published on: January 10, 2025

1.1K

Related Experiment Videos

Last Updated: Apr 3, 2026

Identification and Analysis of Mouse Erythroid Progenitors using the CD71/TER119 Flow-cytometric Assay
15:32

Identification and Analysis of Mouse Erythroid Progenitors using the CD71/TER119 Flow-cytometric Assay

Published on: August 5, 2011

34.3K
Induction of Eryptosis in Red Blood Cells Using a Calcium Ionophore
09:15

Induction of Eryptosis in Red Blood Cells Using a Calcium Ionophore

Published on: January 21, 2020

9.4K
Author Spotlight: Advancing Erythropoiesis Research - A Simplified Pipeline for Assessing Hematopoietic Stem Cell Function in Myelodysplastic Syndromes
08:53

Author Spotlight: Advancing Erythropoiesis Research - A Simplified Pipeline for Assessing Hematopoietic Stem Cell Function in Myelodysplastic Syndromes

Published on: January 10, 2025

1.1K

Area of Science:

  • Biochemistry
  • Genetics
  • Dermatology

Background:

  • Congenital erythropoietic porphyria (CEP) is an ultra-rare autosomal-recessive disorder.
  • It stems from a homozygous defect in uroporphyrinogen III cosynthase, impacting porphyrin metabolism.

Observation:

  • Elevated uroporphyrin I in cells, erythrocytes, urine, and feces.
  • Patients exhibit severe phototoxic skin damage, ulcerations, and mutilations.
  • Internal symptoms include splenomegaly, hemolytic anemia, and skeletal changes like osteolysis.

Findings:

  • Up to 130 CEP cases have been documented globally.
  • Treatments like splenectomy and erythrocyte transfusions offer partial benefits.
  • Bone marrow and stem cell transplantation have been attempted in limited cases.

Implications:

  • Sunlight avoidance remains the most effective management strategy.
  • Understanding CEP pathogenesis is vital for developing targeted therapies.
  • Further research is needed to improve treatment outcomes for this rare disease.