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

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

20.5K
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,...
20.5K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

1.1K
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,...
1.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

19.4K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
19.4K
Incomplete Dominance01:43

Incomplete Dominance

32.9K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.9K
Mutations in Microorganisms01:18

Mutations in Microorganisms

1.1K
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
1.1K

You might also read

Related Articles

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

Sort by
Same author

Kidney Stone Research in the Rochester Epidemiology Project.

Mayo Clinic proceedings·2026
Same author

Accuracy and precision of automated kidney stone detection on CT.

Abdominal radiology (New York)·2026
Same author

Differences between cystatin C- and creatinine-based estimated glomerular filtration rate and the risks of postoperative complications and mortality.

Journal of clinical anesthesia·2026
Same author

Prevention of urinary stones with hydration: a randomised clinical trial of an adherence intervention.

Lancet (London, England)·2026
Same author

The Significance of Fibroblast Growth Factor 23 and 24,25-Dihydroxyvitamin D in Dent Disease Type 1.

Clinical journal of the American Society of Nephrology : CJASN·2026
Same author

Comparative Analysis of Glomerular Filtration Rate Measurement Techniques: Part 2. Current GFR Measurements.

Kidney360·2026
Same journal

Ultrasensitive Immunoassay Using a Novel Galactose-Deficient IgA1 Antibody and Its Clinical Application in the Diagnosis of IgAN.

Kidney international reports·2026
Same journal

Association of IgG N-Glycans With Adverse Outcomes in CKD.

Kidney international reports·2026
Same journal

Urinary Soluble CD163: A Dynamic Biomarker for Monitoring Treatment Response and Relapse in IgA Nephropathy.

Kidney international reports·2026
Same journal

<i>APOL1</i> Variants, AKI, and Progression to Kidney Failure in People of African Ancestry Living with HIV.

Kidney international reports·2026
Same journal

Validation of the Standardized Outcomes in Nephrology - Life Participation (SONG-LP) Instrument in People Receiving Dialysis.

Kidney international reports·2026
Same journal

Effect of Hemodialysis With Citrate on Vascular Calcification.

Kidney international reports·2026
See all related articles

Related Experiment Video

Updated: Apr 21, 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

35.1K

Database of CLCN5 Pathogenic Variants Causing Dent Disease.

Pin Lyu1,2, Kyung Whan Yoo2, Zhuo Chen1

  • 1School of Physical Education, Hangzhou Normal University, Hangzhou, Zhejiang, China.

Kidney International Reports
|April 20, 2026
PubMed
Summary
This summary is machine-generated.

This study created a comprehensive catalog of 524 CLCN5 variants, improving diagnosis and prevalence estimates for Dent disease type 1. The findings identify key functional regions for potential therapeutic development.

Keywords:
CLCN5ClC-5Dent disease type 1HGVS nomenclaturehelix Hvariant database

More Related Videos

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

10.6K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Related Experiment Videos

Last Updated: Apr 21, 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

35.1K
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

10.6K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Dent disease type 1 is an X-linked disorder caused by CLCN5 variants, leading to kidney failure.
  • Current CLCN5 variant databases are incomplete and inconsistent, hindering accurate diagnosis and prevalence estimation.

Purpose of the Study:

  • To create a comprehensive, uniformly annotated catalog of pathogenic CLCN5 variants.
  • To improve diagnostic accuracy and refine prevalence estimates for Dent disease type 1.
  • To identify functionally important regions within the CLC-5 protein.

Main Methods:

  • Compiled pathogenic CLCN5 variants from case reports, databases, and unpublished data.
  • Standardized variants using HGVS nomenclature and mapped them to reference sequences.
  • Assessed pathogenicity and cross-validated with existing literature and databases.

Main Results:

  • Identified 524 unique pathogenic or likely pathogenic CLCN5 variants, more than any existing database.
  • Characterized variant types, including missense (31%), InDel (37%), nonsense (14%), splicing (13%), and large deletions (5%).
  • Exon 10 showed the highest variant density; structural mapping identified functional regions in Helix H and O-Q helices.

Conclusions:

  • The developed catalog is the most comprehensive to date, enhancing CLCN5 variant interpretation.
  • Refined estimates suggest at least 880 families affected globally, totaling approximately 3520 individuals.
  • Identified key functional regions in CLC-5, relevant for future therapeutic strategies.