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

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.7K
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...
12.7K
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

189
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
189
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.8K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.8K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

143
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
143
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

129
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
129
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

160
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
160

You might also read

Related Articles

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

Sort by
Same author

Insights into the experiences of people living with chronic kidney disease and obesity participating in a randomized controlled weight loss trial: A qualitative study.

Journal of the Academy of Nutrition and Dietetics·2026
Same author

Expression of sulfate pathway genes in human neurodevelopment.

Journal of neurogenetics·2026
Same author

The Bayley-4 Versus the Bayley-III in Very Preterm Children at 24 Months' Corrected Age.

Pediatrics·2026
Same author

The Concise Guide to PHARMACOLOGY 2025/26: Transporters.

British journal of pharmacology·2025
Same author

Stage-dependent effects of systemic ASBT inhibition in a cholestasis-induced cholemic nephropathy mouse model.

JHEP reports : innovation in hepatology·2025
Same author

Introducing Saul J. Karpen, MD, PhD, the 77th President of AASLD.

Hepatology (Baltimore, Md.)·2025
Same journal

Solvent Extraction of Metals in the Circular Economy: Enhancing Resource Efficiency and Sustainability.

TheScientificWorldJournal·2026
Same journal

Agronomic Performance and Nutritive Value Evaluation of Desho Grass Varieties Under Supplementary Irrigation in Western Oromia, Ethiopia.

TheScientificWorldJournal·2026
Same journal

Physicians' and Hospital Administrators' Perspectives of Diagnosis-Related Groups (DRGs) in High-Income Countries: A Systematic Review.

TheScientificWorldJournal·2026
Same journal

The Eco-Friendly Preparation of Se, Zn, and Ag MONPs and Their Current Medical Applications and Drug Delivery for AD Diseases.

TheScientificWorldJournal·2026
Same journal

Fear of COVID-19: A Comparative Study Among University Students in Peru.

TheScientificWorldJournal·2026
Same journal

Opportunities and Challenges of Integrating Ethiopian Traditional Medicine System Into Modern Medicine: A Narrative Review.

TheScientificWorldJournal·2026
See all related articles

Related Experiment Video

Updated: May 5, 2026

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

36.1K

Human SLC26A1 gene variants: a pilot study.

Paul A Dawson1, Pearl Sim, David W Mudge

  • 1Mater Research, Translational Research Institute, Woolloongabba, QLD 4102, Australia.

Thescientificworldjournal
|November 20, 2013
PubMed
Summary
This summary is machine-generated.

Genetic variants in the SLC26A1 gene are linked to recurrent kidney stones in humans. Mutations in this gene, which encodes the sulfate anion transporter 1 (SAT1) protein, may increase the risk of calcium oxalate stone formation.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

12.4K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

8.9K

Related Experiment Videos

Last Updated: May 5, 2026

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

36.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

12.4K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

8.9K

Area of Science:

  • Nephrology
  • Genetics
  • Biochemistry

Background:

  • Kidney stones represent a significant global health burden with substantial economic impact.
  • The underlying causes of recurrent kidney stone formation in patients are not fully understood, but likely involve a complex interplay of genetic, environmental, and physiological factors.
  • Previous studies in mice have implicated the solute linked carrier (SLC) 26A1 gene, encoding sulfate anion transporter 1 (SAT1), in the development of hyperoxaluria and calcium oxalate renal stones.

Purpose of the Study:

  • To investigate the potential role of the SAT1 protein, encoded by the SLC26A1 gene, in human urolithiasis.
  • To screen the SLC26A1 gene for mutations in a cohort of individuals experiencing recurrent calcium oxalate urolithiasis.

Main Methods:

  • DNA sequencing was performed on the SLC26A1 gene in a cohort of 13 patients with a history of recurrent calcium oxalate urolithiasis.
  • Analysis focused on identifying missense mutations within the coding region of the SLC26A1 gene.

Main Results:

  • Genetic variations in SLC26A1 were identified in seven out of 13 patients.
  • Specific mutations found include heterozygous R372H, heterozygous Q556R (in four patients), homozygous Q556R (in one patient), and a combination of homozygous Q556R and heterozygous M132T in a patient with severe nephrocalcinosis.
  • The M132 amino acid is evolutionarily conserved and located in a critical transmembrane domain of the SAT1 protein, suggesting functional importance.

Conclusions:

  • These findings suggest that genetic variants in the SLC26A1 gene are associated with recurrent calcium oxalate urolithiasis in humans.
  • The identified mutations, particularly in conserved regions of the SAT1 protein, warrant further investigation into their functional impact on kidney stone formation.
  • Larger, independent studies are recommended to validate these initial observations and explore the broader role of SLC26A1 in human kidney stone disease.