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

MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA ends...

You might also read

Related Articles

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

Sort by
Same author

2025 Inborn errors of immunity practice parameter: Guidance from the Joint Task Force on Practice Parameters, the American Academy of Allergy, Asthma & Immunology (AAAAI), the American College of Allergy, Asthma and Immunology (ACAAI) and the Clinical Immunology Society (CIS).

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology·2026
Same author

Synthetic Hybrid Receptors for Safer and Programmable T Cell Therapy.

bioRxiv : the preprint server for biology·2026
Same author

Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9<sup>+</sup> chondrocyte expansion.

Journal of human immunity·2026
Same author

The systemic effects of 22q11.2 deletion syndrome on immunity.

Journal of human immunity·2026
Same author

Protocol for dual spatial transcriptomic profiling of infected tissues.

STAR protocols·2026
Same author

Inherited IL-18BP deficiency in two Egyptian siblings with fulminant viral hepatitis.

Journal of human immunity·2025

Related Experiment Video

Updated: May 13, 2026

High Throughput MicroRNA Profiling: Optimized Multiplex qRT-PCR at Nanoliter Scale on the Fluidigm Dynamic ArrayTM IFCs
07:27

High Throughput MicroRNA Profiling: Optimized Multiplex qRT-PCR at Nanoliter Scale on the Fluidigm Dynamic ArrayTM IFCs

Published on: August 3, 2011

Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome.

M Teresa de la Morena1, Jennifer L Eitson2, Igor M Dozmorov2

  • 1Department of Pediatrics, The University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9063, USA.

Clinical Immunology (Orlando, Fla.)
|March 5, 2013
PubMed
Summary

MicroRNA expression patterns in 22q11.2 deletion syndrome (DiGeorge syndrome) patients differ significantly from controls. Specific microRNAs correlate with clinical features like cardiac anomalies and immunodeficiency.

More Related Videos

Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform
10:37

Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform

Published on: November 30, 2016

Differentiation of a Human Neural Stem Cell Line on Three Dimensional Cultures, Analysis of MicroRNA and Putative Target Genes
10:48

Differentiation of a Human Neural Stem Cell Line on Three Dimensional Cultures, Analysis of MicroRNA and Putative Target Genes

Published on: April 12, 2015

Related Experiment Videos

Last Updated: May 13, 2026

High Throughput MicroRNA Profiling: Optimized Multiplex qRT-PCR at Nanoliter Scale on the Fluidigm Dynamic ArrayTM IFCs
07:27

High Throughput MicroRNA Profiling: Optimized Multiplex qRT-PCR at Nanoliter Scale on the Fluidigm Dynamic ArrayTM IFCs

Published on: August 3, 2011

Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform
10:37

Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform

Published on: November 30, 2016

Differentiation of a Human Neural Stem Cell Line on Three Dimensional Cultures, Analysis of MicroRNA and Putative Target Genes
10:48

Differentiation of a Human Neural Stem Cell Line on Three Dimensional Cultures, Analysis of MicroRNA and Putative Target Genes

Published on: April 12, 2015

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Disease Research

Background:

  • 22q11.2 deletion syndrome presents with diverse symptoms including immunodeficiency, cardiac defects, and hypocalcemia.
  • This syndrome results from deletions on chromosome 22q11.2, affecting numerous genes and microRNAs.
  • MicroRNAs are crucial gene regulators, and their dysregulation is linked to various human diseases.

Purpose of the Study:

  • To investigate microRNA expression profiles in the peripheral blood of individuals with 22q11.2 deletion syndrome.
  • To identify specific microRNA signatures associated with the syndrome and its clinical manifestations.
  • To compare microRNA expression between patients and healthy controls.

Main Methods:

  • Peripheral blood samples were collected from 31 patients with 22q11.2 deletion syndrome and 22 healthy controls.
  • MicroRNA expression levels were analyzed and compared between the two groups.
  • Statistical analyses were performed to identify differentially expressed microRNAs and their clinical correlations.

Main Results:

  • Eighteen microRNAs showed statistically significant differential expression (p<0.05) in patients compared to controls.
  • miR-185 was notably downregulated, with levels at approximately 0.4 times that of normal controls.
  • The patient cohort displayed increased microRNA expression variability and overall dysregulation.
  • Certain microRNAs could distinguish patients with specific clinical features such as cardiac anomalies, hypocalcemia, or low T cell counts.

Conclusions:

  • MicroRNA profiling reveals a distinct expression signature in 22q11.2 deletion syndrome (DiGeorge syndrome) patients compared to controls.
  • This microRNA signature has potential clinical relevance for diagnosing and understanding the syndrome's heterogeneity.
  • Further research into microRNA dysregulation may offer new diagnostic or therapeutic avenues for 22q11.2 deletion syndrome.