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

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

9
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
9
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.6K
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

8
IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
8
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

5.8K
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...
5.8K
Adrenal Gland Disorders01:27

Adrenal Gland Disorders

1.6K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.6K
Autoimmune Disorders01:29

Autoimmune Disorders

494
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
494

You might also read

Related Articles

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

Sort by
Same author

Characterization of Patient-Reported Loin Pain in IgAN.

Kidney international reports·2026
Same authorSame journal

Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.

Kidney international reports·2026
Same author

Unanswered Questions About Microscopic Hematuria With Tubulopathy.

Kidney international reports·2026
Same author

Chronic hyponatraemia with a reset osmostat: when abnormal is normal.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Essential but elusive: the availability of suitable salt treatments for tubulopathies.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026
Same author

Renal Fanconi syndrome and vitamin D deficiency: chicken or egg?

Pediatric nephrology (Berlin, Germany)·2026

Related Experiment Video

Updated: Jul 19, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.3K

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.

Mallory L Downie1,2, Sanjana Gupta1, Catalin Voinescu1

  • 1Department of Renal Medicine, University College London, London, UK.

Kidney International Reports
|August 7, 2023
PubMed
Summary

Genetic studies identified a new risk gene, AHI1, for childhood steroid-sensitive nephrotic syndrome (SSNS). This finding enhances understanding of SSNS pathophysiology and its link to immune dysregulation.

Keywords:
AHI1GWASHLASSNSpediatric nephrology

More Related Videos

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.2K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Related Experiment Videos

Last Updated: Jul 19, 2025

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.3K
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.2K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K

Area of Science:

  • Genetics
  • Pediatric Nephrology
  • Immunology

Background:

  • Steroid-sensitive nephrotic syndrome (SSNS) is a common childhood kidney disease globally.
  • Genome-wide association studies (GWAS) have linked SSNS to genetic variations in the HLA-DQ/DR region and other loci.
  • Identifying additional genetic factors is crucial for understanding SSNS pathophysiology.

Purpose of the Study:

  • To identify novel genetic loci associated with SSNS in pediatric populations of Sri Lankan and European ancestry.
  • To perform a transethnic meta-analysis to confirm and discover genetic associations.
  • To explore the role of identified genes in SSNS pathogenesis.

Main Methods:

  • Conducted a GWAS in a Sri Lankan cohort (420 SSNS patients, 2339 controls).
  • Performed transethnic meta-analysis with a European cohort (422 SSNS patients, 5642 controls).
  • Replicated findings in an independent South Asian cohort.

Main Results:

  • Confirmed the association of SSNS with HLA-DR/DQ (rs9271602, P=1.12×10⁻²⁷, OR=2.75).
  • Identified a novel association with AHI1 (rs2746432, P=2.79×10⁻⁸, OR=1.37) in the transethnic meta-analysis.
  • Replicated the AHI1 association in an independent South Asian cohort.

Conclusions:

  • Common variations in AHI1 contribute to SSNS risk in Sri Lankan and European populations.
  • The AHI1 association supports the role of immune dysregulation in SSNS pathogenesis.
  • Genetic variations across allele frequencies can contribute to both monogenic and polygenic diseases.