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

Irritable Bowel Syndrome01:23

Irritable Bowel Syndrome

70
DefinitionIrritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by recurrent combinations of abdominal pain, bloating, diarrhea, or constipation.Pathophysiology of irritable bowel syndromeIts pathophysiology is multifactorial, involving disturbances in motility, sensory processing, microbial balance, barrier integrity, and gut–brain communication. These mechanisms interact to produce symptoms that vary across IBS subtypes.Altered Motility...
70
Renewal of Intestinal Stem Cells01:23

Renewal of Intestinal Stem Cells

2.7K
The intestinal epithelial lining rapidly renews every 4 to 5 days. The renewal is facilitated by intestinal stem cells (ISCs) located at the base of the crypt– a gland located at the bottom of each villus. ISCs divide asymmetrically to form new stem cells and progenitor daughter cells. The daughter cells are called transit-amplifying (TA) cells which move upwards along the crypt and either differentiate into absorptive cells– the enterocytes or secretory cells– including the...
2.7K
Microtubules in Signaling01:22

Microtubules in Signaling

1.5K
The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
1.5K
Diverticular Disease of the Colon01:27

Diverticular Disease of the Colon

49
Diverticular disease involves the formation of diverticula—small sac-like outpouchings of the colonic wall—and their complications. It most commonly affects the sigmoid colon due to higher intraluminal pressure and structural vulnerability. It results from structural weakness and increased pressure in the colon, producing pseudodiverticula that may remain silent or progress to inflammation and serious complications.Structure of DiverticulaIn diverticulosis, these outpouchings are...
49
Sympathetic Pathways: Sympathetic Chain Ganglia01:20

Sympathetic Pathways: Sympathetic Chain Ganglia

7.2K
The sympathetic chain ganglia, also known as the sympathetic trunk ganglia or paravertebral ganglia, are a series of ganglia located bilaterally on either side of the spinal column. These ganglia serve as relay stations for the sympathetic nervous system. Preganglionic neurons originating in the spinal cord project their axons to the sympathetic chain ganglia. Within the ganglia, these preganglionic fibers synapse with postganglionic neurons.The postganglionic neurons of the sympathetic trunk...
7.2K
Chronic Bowel Disorders: Introduction01:17

Chronic Bowel Disorders: Introduction

906
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
906

You might also read

Related Articles

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

Sort by
Same author

Machine learning, whole genome sequencing, and Mendelian randomization support a role of CRP on COVID-19 severity.

Molecular medicine (Cambridge, Mass.)·2026
Same author

A massively parallel reporter assay of <i>MECP2</i> cis-regulatory elements reveals genetic candidates for male-biased autism.

bioRxiv : the preprint server for biology·2026
Same author

<i>Sod1</i> trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal <i>Ret</i> suppression and glial remodeling.

bioRxiv : the preprint server for biology·2026
Same author

Using the linear references from the pangenome to discover missing autism variants.

Nature communications·2026
Same author

Joint disruption of <i>Ret</i> and <i>Ednrb</i> transcription shifts cell fate trajectories in the enteric nervous system in Hirschsprung disease.

Proceedings of the National Academy of Sciences of the United States of America·2025
Same author

Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.

bioRxiv : the preprint server for biology·2025
Same journal

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023.

Orphanet journal of rare diseases·2026
Same journal

A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation.

Orphanet journal of rare diseases·2026
Same journal

Mortality trends and socioeconomic inequalities in sickle cell disease in Colombia, 2012-2023: a population-based study.

Orphanet journal of rare diseases·2026
Same journal

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Orphanet journal of rare diseases·2026
Same journal

Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy.

Orphanet journal of rare diseases·2026
Same journal

Fatigue and pain in children with multiple osteochondromas: a cross-sectional study.

Orphanet journal of rare diseases·2026
See all related articles

Related Experiment Video

Updated: May 5, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

13.4K

Pathways systematically associated to Hirschsprung's disease.

Raquel M Fernández, Marta Bleda, Berta Luzón-Toro

  • 1Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Av, Manuel Siurot s/n, Seville, 41013, Spain. jdopazo@cipf.es.

Orphanet Journal of Rare Diseases
|December 3, 2013
PubMed
Summary
This summary is machine-generated.

This study validates that gene ontology modules involved in signal transduction and enteric nervous system formation are key to Hirschsprung

More Related Videos

Immunostaining to Visualize Murine Enteric Nervous System Development
07:54

Immunostaining to Visualize Murine Enteric Nervous System Development

Published on: April 29, 2015

10.9K
A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors
08:26

A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors

Published on: September 18, 2013

8.6K

Related Experiment Videos

Last Updated: May 5, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

13.4K
Immunostaining to Visualize Murine Enteric Nervous System Development
07:54

Immunostaining to Visualize Murine Enteric Nervous System Development

Published on: April 29, 2015

10.9K
A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors
08:26

A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors

Published on: September 18, 2013

8.6K

Area of Science:

  • Genetics
  • Developmental Biology
  • Computational Biology

Background:

  • The precise molecular underpinnings of Hirschsprung's disease (HSCR) remain largely elusive, despite identified genetic loci.
  • Studying gene function modules offers a robust statistical approach for rare disease research, overcoming sample size limitations.

Purpose of the Study:

  • To extend previous findings on HSCR genetic associations to an international cohort.
  • To validate the generality of functional mechanisms underlying Hirschsprung's disease.

Main Methods:

  • Pathway-Based Analysis (PBA) was employed on an international cohort of 162 HSCR trios.
  • Gene Ontology (GO) module enrichment and network analysis were utilized to identify associated functional pathways.
  • Functional profiles were compared across different international patient populations.

Main Results:

  • PBA confirmed significant associations between HSCR and GO modules related to signal transduction, its regulation, and enteric nervous system (ENS) development.
  • Network analysis identified disease-associated sub-networks with conserved gene functionalities, independently validating the PBA findings.
  • Despite variations in specific gene associations across populations, the core functional profiles remained consistent internationally.

Conclusions:

  • The study confirms the conserved functional basis of Hirschsprung's disease across diverse populations.
  • Identified gene ontology modules provide critical insights into HSCR pathogenesis.
  • The findings help explain the variability in individual gene association reproducibility across different patient cohorts.