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

Protein Import into the Peroxisomes01:27

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...
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
Renal Regulation of Acid-Base Balance01:29

Renal Regulation of Acid-Base Balance

Metabolic reactions in the body produce nonvolatile acids, such as sulfuric acid, which generate an acid load of approximately 1 mEq of H+ per kilogram of body weight daily. Excreting H+ in the urine is essential to balance this acid load.
In the kidneys, cells within the proximal convoluted tubules (PCT) and the collecting ducts secrete hydrogen ions (H+) into the tubular fluid. Specifically, in the PCT, Na+/H+ antiporters secrete H+ while reabsorbing Na+.
However, the intercalated cells in...

You might also read

Related Articles

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

Sort by
Same author

Boosting cytotoxicity of adoptive allogeneic NK cell therapy with an oncolytic adenovirus encoding a human vIL-2 cytokine for the treatment of human ovarian cancer.

Cancer gene therapy·2023
Same author

Improving the cytotoxic response of tumor-infiltrating lymphocytes towards advanced stage ovarian cancer with an oncolytic adenovirus expressing a human vIL-2 cytokine.

Cancer gene therapy·2023
Same author

Long-term effectiveness of Self-Help Plus in refugees and asylum seekers resettled in Western Europe: 12-month outcomes of a randomised controlled trial.

Epidemiology and psychiatric sciences·2022
Same author

Ventricular arrhythmia and sudden cardiac death in young Leonbergers.

Journal of veterinary cardiology : the official journal of the European Society of Veterinary Cardiology·2019
Same author

Comparative transcriptome analysis of matched primary and distant metastatic ovarian carcinoma.

BMC cancer·2019
Same author

Efficacy and acceptability of psychosocial interventions in asylum seekers and refugees: systematic review and meta-analysis.

Epidemiology and psychiatric sciences·2019
Same journal

Genes Associated With Fracture Risk in Thoroughbred Horses Have Novel Roles in Osteogenesis.

Animal genetics·2026
Same journal

Characterization and Validation of A-to-I RNA Editing Events Reveal Their Potential Regulatory Role in Bovine Adipogenesis.

Animal genetics·2026
Same journal

The ISAG 2024/2025 Forensic Comparison Test: A Curated Pilot Dataset for Domestic Animal Forensic Genetics.

Animal genetics·2026
Same journal

Genetic Indicators of Performance Resilience in Barrel Racing Quarter Horses.

Animal genetics·2026
Same journal

Sex-Linked Dilution Colour in the European Domestic Goose Indicated To Be a 1-Bp Deletion in the Melan-A Gene.

Animal genetics·2026
Same journal

Genome-Wide Association Study and Genomic Prediction for Maximum Litter Size in Sows.

Animal genetics·2026
See all related articles

Related Experiment Video

Updated: May 23, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

Primary hyperoxaluria in Coton de Tulear.

G Vidgren1, K Vainio-Siukola, S Honkasalo

  • 1Finnish Food Safety Authority Evira, Pathology Research Unit, Helsinki, Finland. gabriele.vidgren@evira.fi

Animal Genetics
|April 11, 2012
PubMed
Summary
This summary is machine-generated.

Primary hyperoxaluria (PH), a rare metabolic disorder, caused neonatal death in Coton de Tulear puppies. A genetic mutation in the AGXT gene was identified, and carrier testing is recommended for breeding.

More Related Videos

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Related Experiment Videos

Last Updated: May 23, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
09:40

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

Area of Science:

  • Veterinary Medicine
  • Canine Genetics
  • Metabolic Disorders

Background:

  • Primary hyperoxaluria (PH) is a rare autosomal recessive disorder affecting glyoxylate metabolism.
  • PH leads to oxalate accumulation and calcium oxalate crystal deposition, primarily in the kidneys.
  • Deficiencies in AGXT or GRHPR enzymes cause most human PH cases.

Purpose of the Study:

  • To investigate the cause of neonatal mortality in Coton de Tulear puppies.
  • To identify the genetic basis of suspected primary hyperoxaluria in affected puppies.
  • To determine the carrier frequency of the identified mutation in the Finnish Coton de Tulear population.

Main Methods:

  • Necropsy and histopathological examination of affected puppies.
  • Microsatellite analysis to identify candidate genes (AGXT, GRHPR).
  • AGXT gene exon sequencing to detect mutations.
  • Genetic screening of a larger Coton de Tulear population for carrier status.

Main Results:

  • Necropsy revealed tubular necrosis and oxalate crystal deposition consistent with PH.
  • A novel mutation (c.996G>A) in the AGXT gene, leading to a p.Gly102Ser substitution, was identified.
  • This mutation segregated with the disease in affected litters.
  • Carrier screening identified 8.5% of 118 Finnish Coton de Tulear dogs as carriers.

Conclusions:

  • Primary hyperoxaluria is a cause of neonatal mortality in Finnish Coton de Tulear dogs.
  • The identified AGXT mutation is responsible for PH in this breed.
  • Genetic testing before breeding is crucial to prevent affected offspring.