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Related Concept Videos

Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

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Barrett's esophagus is a medical condition where the esophageal mucosa is significantly damaged by stomach acid or other digestive fluids, often due to long-term exposure associated with gastroesophageal reflux disease (GERD). In GERD, a weakened or abnormally relaxed lower esophageal sphincter allows stomach acid to flow persistently into the esophagus.
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more...
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Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

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Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure...
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Abnormal Proliferation02:23

Abnormal Proliferation

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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Tumor Progression02:07

Tumor Progression

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Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
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Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

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Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
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Related Experiment Video

Updated: Jul 29, 2025

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
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ARPC1B Mutation Manifesting as Recurrent Hematemesis With Metaplasia.

Swati Antala1, Bridget Whitehead1, Hector Melin-Aldana2

  • 1From the Division of Gastroenterology, Hepatology and Nutrition, Northwestern University, Feinberg School of Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.

JPGN Reports
|May 19, 2023
PubMed
Summary

A mutation in ARPC1B impairs the ARP2/3 complex, affecting cell functions and immunity. This case highlights gastrointestinal bleeding in a patient with this rare genetic disorder.

Area of Science:

  • Immunology
  • Cell Biology
  • Genetics

Background:

  • The ARPC1B gene is crucial for ARP2/3 complex assembly and function.
Keywords:
ARPC1Bcongenitalgastrointestinal hemorrhagegenetic mutationhemorrhagic gastritisimmunodeficiencymetaplasia

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  • Loss of ARPC1B function disrupts actin polymerization, impacting cell migration, chemotaxis, and DNA repair.
  • Mutations in ARPC1B lead to severe immune dysregulation and inflammatory conditions presenting in infancy.