Related Experiment Video

Updated: Jan 13, 2026

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

4.2K

Genomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning

Takashi Okuno1,2, Masamichi Ikawa2, Miori Yuasa1

  • 1Department of Pediatrics, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|January 6, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
fetal hydropsgenomic autopsylysosomal storage disordermucopolysaccharidosis VIIprenatal diagnosis

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

9.0K
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

618

Related Experiment Videos

Last Updated: Jan 13, 2026

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

4.2K
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

9.0K
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

618

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.4K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

9.0K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.0K
Pedigree Analysis01:35

Pedigree Analysis

88.8K
Overview
88.8K

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

Immunohistochemical Characterization of Keratan Sulfate Preferentially Expressed in Papillary Thyroid Carcinoma Using a Novel Monoclonal Antibody 299-1C1.

The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society·2026

Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32.

Journal of human genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation.

Science immunology·2026

Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.

Journal of human genetics·2026

Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations.

Journal of human genetics·2026

Comparison of Phenol Application and Endoscopic Pilonidal Sinus Treatment in Pediatric Pilonidal Sinus Disease.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Outcomes and Regional Care Patterns of Critically Ill Pediatric Emergency Patients: A Population-Based Registry Study.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Characteristics of Pediatric Patients With Home Mechanical Ventilation in a Japanese Regional Core Hospital.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Inspiratory Muscle Training in Children With Cerebral Palsy: Effects on Respiratory and Motor Functions.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Limited Clinical Associations of Age-Adjusted Serum Thymus and Activation-Regulated Chemokine in Kawasaki Disease.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Hepatic Steatosis Complicating Pediatric Idiopathic Nephrotic Syndrome During Systemic Corticosteroid Therapy: A Case Report.

Cureus·2026

Umbilical artery bypass for surgical treatment of femoral artery stenosis in a newborn: A case report.

Journal of vascular surgery cases and innovative techniques·2026

Association between 24-hour urine output during early non-invasive ventilation and short-term adverse outcomes in late preterm infants: a retrospective cohort study.

Translational pediatrics·2026

Development and validation of a risk prediction model for respiratory tract Ureaplasma urealyticum infection in preterm infants.

Translational pediatrics·2026

Ultrasound-based nomogram for predicting high-risk hepatic portal venous gas in children: a retrospective cohort study.

Translational pediatrics·2026

Construction of a prediction model for retinopathy of prematurity based on placenta-derived genes and clinical variables.

Translational pediatrics·2026
See all related articles
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
Jove
Visualize
Contact Us