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

Lumber Defects01:23

Lumber Defects

Lumber defects, which can affect both the appearance and structural integrity of wood, include a variety of growth and manufacturing flaws. Growth defects such as knots and knotholes occur where branches were once attached to the tree trunk, with knotholes forming when these knots fall out. Other natural defects include decay and insect damage, which compromise the wood's strength and durability.
Shakes are minor fractures that run along or across the wood's annual rings, while wane is...
Imperfections in Crystal Structure: Non-Stoichiometric Defects01:29

Imperfections in Crystal Structure: Non-Stoichiometric Defects

Non-stoichiometric defects refer to a type of defect in the crystal structure of a compound where the ratio of its constituent elements deviates from the ideal stoichiometric ratio. There are two main types of non-stoichiometric defects: metal excess defects and metal deficiency defects.Metal excess defects occur when there is a slight surplus of metal ions than what is required by the stoichiometric ratio of the compound. For example, heating a sodium chloride crystal in sodium vapor results...
Imperfections in Crystal Structure: Point, Line and Plane Defects01:25

Imperfections in Crystal Structure: Point, Line and Plane Defects

A perfect crystal, in theory, has a uniform structure with the same unit cell and lattice points throughout. However, any deviation from this periodic arrangement is known as an imperfection or defect. These defects can be categorized into three types: point, line, and plane defects.Point defects occur when there is a deviation from the ideal due to missing atoms, displaced atoms, or additional atoms. These imperfections might occur due to imperfect packing during crystallization or because of...
Imperfections in Crystal Structure: Stoichiometric Point Defects01:26

Imperfections in Crystal Structure: Stoichiometric Point Defects

Schottky defects arise when some lattice points in a crystal, such as those in NaCl, remain unoccupied, creating lattice vacancies without disturbing the overall electrical neutrality of the crystal. This defect is common in ionic crystals where the positive and negative ions are similar in size, as seen in sodium chloride and cesium chloride. The presence of Schottky defects enables the crystal to conduct electricity to a small extent through an ionic mechanism. Electric fields cause nearby...
Documentation of Nursing Diagnosis01:10

Documentation of Nursing Diagnosis

The nurse documents nursing diagnoses and enters them into the patient record. The identified patient's nursing diagnosis is either written out with a plan of care or entered into the electronic health record.
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters assessment...
Pedigree Analysis01:35

Pedigree Analysis

Overview

You might also read

Related Articles

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

Sort by
Same author

Germline TP53 Mutations Causing Diamond-Blackfan Anemia: A French Report.

Pediatric blood & cancer·2026
Same author

Retraction Notice to: Blocking Macrophage Migration Inhibitory Factor Protects Against Cisplatin-Induced Acute Kidney Injury in Mice.

Molecular therapy : the journal of the American Society of Gene Therapy·2026
Same author

Hematologic Landscape of Adult Patients With Diamond-Blackfan Anemia Syndrome.

American journal of hematology·2026
Same author

MMS22L is a novel key actor of normal and pathological erythropoiesis.

HemaSphere·2025
Same author

Immunodeficiency in children with Diamond Blackfan and Diamond Blackfan like anemia.

Blood cells, molecules & diseases·2025
Same author

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

Genetics in medicine : official journal of the American College of Medical Genetics·2024

Related Experiment Video

Updated: May 9, 2026

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

Defects in DBA: more than meets the eye.

Lydie Da Costa1

  • 1Hôpital Universitaire Robert-Debré.

Blood
|August 10, 2013
PubMed
Summary

Researchers derived induced pluripotent stem cells (iPSs) from Diamond Blackfan anemia (DBA) patients, revealing global hematopoietic defects beyond red blood cell production in multipotent progenitors.

Area of Science:

  • Hematology
  • Stem Cell Biology
  • Genetics

Background:

  • Diamond-Blackfan anemia (DBA) is a rare genetic disorder characterized by severe anemia due to impaired red blood cell production.
  • The underlying genetic defects in DBA often involve ribosomal proteins, crucial for protein synthesis.
  • Understanding the cellular and molecular mechanisms of DBA is essential for developing effective therapies.

Purpose of the Study:

  • To generate induced pluripotent stem cells (iPSs) from patients with Diamond-Blackfan anemia (DBA) harboring distinct ribosomal defects.
  • To investigate the hematopoietic potential and differentiation capacity of DBA-derived iPSs.
  • To elucidate the impact of ribosomal defects on global hematopoiesis beyond erythropoiesis.

Main Methods:

  • Fibroblast isolation from DBA patients with identified ribosomal defects.

More Related Videos

Comprehensive Characterization of Extended Defects in Semiconductor Materials by a Scanning Electron Microscope
11:14

Comprehensive Characterization of Extended Defects in Semiconductor Materials by a Scanning Electron Microscope

Published on: May 28, 2016

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Related Experiment Videos

Last Updated: May 9, 2026

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering
09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

Comprehensive Characterization of Extended Defects in Semiconductor Materials by a Scanning Electron Microscope
11:14

Comprehensive Characterization of Extended Defects in Semiconductor Materials by a Scanning Electron Microscope

Published on: May 28, 2016

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

  • Reprogramming of fibroblasts into induced pluripotent stem cells (iPSs) using established protocols.
  • In vitro differentiation of iPSs into various hematopoietic lineages.
  • Assessment of erythropoiesis and global hematopoiesis using functional assays and molecular analyses.

    • Main Results:

    • Successful derivation of iPSs from DBA patient fibroblasts with two distinct ribosomal defects.
    • DBA-iPSCs exhibited impaired erythropoiesis, confirming a key feature of the disease.
    • Crucially, these cells demonstrated globally impaired hematopoiesis affecting multipotent progenitors, indicating a broader impact on blood cell development.
    • The study highlights a more comprehensive cellular defect in DBA than previously understood.

    Conclusions:

    • Induced pluripotent stem cells are a valuable tool for modeling Diamond-Blackfan anemia.
    • Ribosomal defects in DBA lead to profound, multi-lineage hematopoietic stem and progenitor cell dysfunction.
    • These findings expand our understanding of DBA pathogenesis and suggest potential therapeutic targets for broader hematopoietic restoration.