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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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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 goblet,...
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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
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Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
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Lysosomal Hydrolases

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,...
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Updated: Jun 11, 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

Hirschsprung's disease.

Simon E Kenny1, Paul K H Tam, Mercè Garcia-Barcelo

  • 1Department of Paediatric Surgery, Alder Hey Children's NHS Foundation Trust, Liverpool, UK. simon.kenny@liv.ac.uk

Seminars in Pediatric Surgery
|July 9, 2010
PubMed
Summary
This summary is machine-generated.

Hirschsprung's disease (HSCR) is a congenital condition where the enteric nervous system is absent in the distal gut. Understanding its genetic and developmental basis offers future hope for affected infants.

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A Quantitative Cell Migration Assay for Murine Enteric Neural Progenitors
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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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Published on: April 26, 2019

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

Area of Science:

  • Developmental biology
  • Gastroenterology
  • Genetics

Background:

  • Hirschsprung's disease (HSCR) involves the absence of the enteric nervous system in the distal bowel.
  • Infants with HSCR typically present with bowel obstruction shortly after birth.
  • Current surgical treatments for HSCR have variable long-term outcomes.

Purpose of the Study:

  • To synthesize recent advances in understanding HSCR.
  • To elucidate the developmental and molecular basis of Hirschsprung's disease.
  • To explore future therapeutic applications for children with HSCR.

Main Methods:

  • Review of recent scientific literature on HSCR.
  • Analysis of genetic and molecular mechanisms underlying HSCR.
  • Examination of normal enteric nervous system development and fetal motility.

Main Results:

  • Significant progress has been made in identifying genes and molecular pathways involved in HSCR.
  • Enhanced understanding of fetal gut development and motility has been achieved.
  • The review integrates genetic, developmental, and clinical aspects of HSCR.

Conclusions:

  • Knowledge of HSCR's developmental and biological underpinnings is rapidly advancing.
  • This integrated understanding holds potential for improved future treatments for HSCR.
  • Further research can translate biological insights into clinical benefits for affected children.