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Related Concept Videos

Barrett Esophagus-I: Introduction01:21

Barrett Esophagus-I: Introduction

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 similar...
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

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 entails...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pedigree Analysis01:35

Pedigree Analysis

Overview
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,...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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Updated: May 9, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Barth syndrome.

John L Jefferies1

  • 1Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA. john.jefferies@cchmc.org

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|July 12, 2013
PubMed
Summary
This summary is machine-generated.

Barth syndrome (BTHS) is an X-linked disorder caused by TAZ gene mutations, leading to cardiomyopathy and neutropenia. Understanding its genetic basis improves clinical management and explores new therapeutic strategies.

Keywords:
Barth syndromecardiomyopathygeneticsheart failure

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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Last Updated: May 9, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Barth syndrome (BTHS) is an X-linked recessive disorder.
  • Characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and 3-methylglutaconic aciduria (3-MGCA).
  • Caused by mutations in the TAZ gene, leading to tafazzin protein dysfunction.

Purpose of the Study:

  • Review the genetic and molecular basis of BTHS.
  • Summarize clinical features and current management strategies.
  • Discuss potential future therapeutic directions.

Main Methods:

  • Literature review of genetic and clinical studies on BTHS.
  • Analysis of current treatment approaches for BTHS manifestations.
  • Exploration of emerging therapeutic targets and strategies.

Main Results:

  • Mutations in the TAZ gene are the primary cause of BTHS.
  • Common clinical manifestations include cardiomyopathy (dilated CMP, LVNC) and neutropenia.
  • Improved clinical management offers potential to alter disease progression.

Conclusions:

  • BTHS is a complex genetic disorder with significant cardiac and hematologic involvement.
  • Advances in understanding TAZ gene function are crucial for BTHS research.
  • Future therapies may target molecular pathways to improve patient outcomes.