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

Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

12.3K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
12.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.1K
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,...
17.1K

You might also read

Related Articles

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

Sort by
Same author

Human umbilical cord mesenchymal stem cells derived exosomes enhance the therapeutic efficacy of anti-miR-10b in glioblastoma.

Scientific reports·2026
Same author

Association of XPD Gene Polymorphisms with Cutaneous Melanoma Risk: A Meta-Analysis and Trial Sequence Evaluation.

Cancer investigation·2026
Same author

Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.

Galen medical journal·2026
Same author

The Association between Serum Biochemical Markers and Early Amniocentesis in Diagnosing Chromosomal Anomalies: A Cross-Sectional Study in Southern Iran, 2021-2022.

Iranian journal of medical sciences·2026
Same author

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Molecular genetics & genomic medicine·2026
Same author

Tubularized augmented peritoneal cap (TAPCap) with intact fish skin xenograft for primary gender-affirming vaginoplasty: early experience and surgical results.

Translational andrology and urology·2026

Related Experiment Video

Updated: Nov 2, 2025

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

34.2K

A novel PTRH2 missense mutation causing IMNEPD: a case report.

Hossein Jafari Khamirani1,2, Sina Zoghi2, Mehdi Dianatpour1,3

  • 1Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

Human Genome Variation
|June 11, 2021
PubMed
Summary

We identified the first Iranian patient with infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD), caused by a PTRH2 gene variant. This rare condition affects multiple body systems from infancy.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.8K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

3.9K

Related Experiment Videos

Last Updated: Nov 2, 2025

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

34.2K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.8K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

3.9K

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • PTRH2 deficiency is linked to infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD).
  • IMNEPD is an extremely rare genetic disorder with significant multi-systemic impact.

Purpose of the Study:

  • To report the first documented case of IMNEPD in an Iranian patient.
  • To identify the genetic basis of IMNEPD in this individual.

Main Methods:

  • Clinical evaluation of the patient.
  • Genetic analysis to detect pathogenic variants in the PTRH2 gene.

Main Results:

  • A pathogenic variant (NM_016077.5: c.68T>C, p.V23A) in the PTRH2 gene was identified.
  • The patient presented with myopia, spastic diplegic cerebral palsy, urolithiasis, and a history of seizures.

Conclusions:

  • This case expands the known spectrum of PTRH2-associated IMNEPD.
  • Highlights the importance of genetic diagnosis in rare pediatric multisystem disorders.