Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Protein Import into the Peroxisomes

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...

Inborn Errors of Metabolism

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...

Cystic Fibrosis: Pathogenesis

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Pleiotropy

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,...

Endoscopic Procedures V: ERCP

Endoscopic Procedures V: ERCP

Endoscopic Retrograde Cholangiopancreatography (ERCP) is a diagnostic procedure that combines endoscopy and fluoroscopy to diagnose and treat conditions related to the bile ducts, pancreatic ducts, and gallbladder. This procedure is beneficial for identifying and addressing blockages, gallstones, strictures, and tumors within the biliary or pancreatic systems. ERCP is both diagnostic and therapeutic, offering the ability to visualize and treat identified problems in one session.
Patient...

Cell Specific Gene Expression

Cell Specific Gene Expression

Multicellular organisms contain a variety of structurally and functionally distinct cell types, but the DNA in all the cells originated from the same parent cells. The differences in the cells can be attributed to the differential gene expression. Liver cells, whose functions include detoxification of blood, production of bile to metabolize fats, and synthesis of proteins essential for metabolism, must express a specific set of genes to perform their functions. Gene expression also varies with...

You might also read

Related Articles

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

Sort by

Same author

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Clinical genetics·2026

Same author

Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings.

Genes·2025

Same author

Congenital enteropathy caused by ezrin deficiency.

Human genetics·2025

Same author

Impact of formula protein quantity and source on infant metabolism: serum, urine, and fecal metabolomes of a randomized controlled study.

The American journal of clinical nutrition·2025

Same author

Pathogenic Deep Intronic PCSK1 Variant Causes Proprotein Convertase 1/3 Deficiency in a Family.

Clinical genetics·2025

Same author

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.

Hepatology communications·2024

Search research articles

Related Experiment Video

Updated: Jun 9, 2025

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

PERCC1 -Related Congenital Enteropathy.

Lena S Kerle¹, Pia Karlsland Åkeson², Thomas Müller¹

¹Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.

Clinical Genetics

|October 30, 2024

Summary

This summary is machine-generated.

Fourteen patients have been identified with nonsyndromic enteropathy linked to PERCC1 gene mutations. This rare genetic disorder necessitates lifelong parenteral nutrition support for affected individuals.

Keywords:

CODEs PERCC1 intestinal epithelial disorder intractable diarrhea

More Related Videos

Immunostaining to Visualize Murine Enteric Nervous System Development

Immunostaining to Visualize Murine Enteric Nervous System Development

Published on: April 29, 2015

Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation

Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation

Published on: March 22, 2017

Related Experiment Videos

Last Updated: Jun 9, 2025

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

Immunostaining to Visualize Murine Enteric Nervous System Development

Immunostaining to Visualize Murine Enteric Nervous System Development

Published on: April 29, 2015

Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation

Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation

Published on: March 22, 2017

Area of Science:

Genetics
Gastroenterology
Pediatrics

Background:

Nonsyndromic enteropathy is a rare condition affecting the small intestine.
Genetic mutations in the PERCC1 gene are implicated in its pathogenesis.
Current understanding of PERCC1 mutations is limited, with only 14 cases reported.

Purpose of the Study:

To summarize the known cases of nonsyndromic enteropathy associated with PERCC1 gene alterations.
To highlight the clinical implications and management challenges of this condition.

Main Methods:

Literature review of reported cases.
Analysis of genetic data from affected individuals.
Review of clinical management strategies.

Main Results:

Fourteen patients with biallelic deletions or truncating mutations in PERCC1 have been identified.
PERCC1 mutations lead to severe intestinal dysfunction requiring parenteral nutrition.
The PERCC1 gene is annotated in the GRCh38 reference sequence in gnomAD.

Conclusions:

PERCC1-related nonsyndromic enteropathy is a severe, rare genetic disorder.
Lifelong parenteral nutrition is essential for managing affected children and adolescents.
Further research is needed to understand PERCC1 function and explore potential therapeutic targets.