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

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...

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,...

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

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

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...

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...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

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...

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

You might also read

Related Articles

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

Sort by

Same author

NETest® 2.0-A decade of innovation in neuroendocrine tumor diagnostics.

Journal of neuroendocrinology·2025

Same author

Evaluating the impact of a virtual educational intervention on medical students' knowledge and attitudes towards patients with intellectual and developmental disabilities.

Journal of intellectual & developmental disability·2025

Same author

Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.

Annals of oncology : official journal of the European Society for Medical Oncology·2024

Same author

Residual unabsorbed midazolam: a case report.

Journal of medical case reports·2023

Same author

Patient perspectives on elective orthopaedic surgery during the COVID-19 pandemic: a comparison between patients from different ethnic backgrounds.

Annals of the Royal College of Surgeons of England·2021

Same author

Lateral segmental mandibulectomy reconstruction with bridging reconstruction plate and anterolateral thigh free flap: a case series of 30 consecutive patients.

The British journal of oral & maxillofacial surgery·2021

Search research articles

Related Experiment Video

Updated: May 13, 2026

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

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

Published on: April 4, 2018

Common mutation underlying primary hyperoxaluria type1 in three Indian children.

R Chanchlani¹, A Sinha, A Gulati

¹Department of Pediatrics, Division of Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.

Indian Journal of Nephrology

|February 27, 2013

Summary

Primary hyperoxaluria type 1 is a genetic kidney disease. A common AGXT gene mutation was found in three Indian children, highlighting the need for targeted genetic screening.

Keywords:

AGXT gene chronic kidney disease nephrocalcinosis

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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

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

Published on: August 20, 2019

Related Experiment Videos

Last Updated: May 13, 2026

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

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

Published on: April 4, 2018

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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

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

Published on: August 20, 2019

Area of Science:

Genetics
Nephrology
Biochemistry

Background:

Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder.
It results from a deficiency in the AGXT gene, encoding alanine-glyoxylate aminotransferase.
PH1 leads to oxalate overproduction and kidney damage.

Observation:

Three Indian children with PH1 were studied.
All presented with chronic kidney disease (CKD).
A shared mutation in the AGXT gene was identified in all patients.

Findings:

The study identified a common AGXT gene mutation in three Indian children with PH1.
All affected children showed signs of CKD at diagnosis.
Progression to end-stage renal disease (ESRD) was observed in these patients.

Implications:

The findings suggest a specific AGXT mutation is prevalent in this Indian cohort.
Targeted genetic screening for this mutation could aid early PH1 diagnosis.
Early diagnosis and intervention may alter the course of kidney disease in PH1.