Related Experiment Video

Updated: Dec 8, 2025

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

4.0K

Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis

Naomi Tani1, Nanako Yamada, Tetsuya Okazaki

  • 1Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, Tottori University, 683-8504 Yonago, Japan.

Acta Dermato-Venereologica
|September 23, 2020
PubMed
Abstract

No abstract available in PubMed .

Keywords:
cholesterol cleftselectron microscopylamellar granulestransglutaminase 1bathing suit ichthyosis

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.1K
Screening for Melanoma Modifiers using a Zebrafish Autochthonous Tumor Model
10:23

Screening for Melanoma Modifiers using a Zebrafish Autochthonous Tumor Model

Published on: November 13, 2012

14.0K

Related Experiment Videos

Last Updated: Dec 8, 2025

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

4.0K
In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.1K
Screening for Melanoma Modifiers using a Zebrafish Autochthonous Tumor Model
10:23

Screening for Melanoma Modifiers using a Zebrafish Autochthonous Tumor Model

Published on: November 13, 2012

14.0K

Related Concept Videos

Pleiotropy01:33

Pleiotropy

42.6K
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,...
42.6K

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

IMU-Based Analysis of Task-Dependent Associations Between Anticipatory Postural Adjustments and Gait Speed Under Dual-Task Conditions.

Sensors (Basel, Switzerland)·2026

Hypoglycemia and altered bile acid metabolism are linked to latent iron deficiency in young Japanese women.

Journal of clinical biochemistry and nutrition·2026

Immunocompromised Adults at Risk of Severe Varicella.

Reports (MDPI)·2026

Characteristics of Eye Movements and Correlation to Cognitive Functions in Relation to the Location of Guide Signs and Driving Speed.

Journal of eye movement research·2026

Elucidating the role of right dorsolateral prefrontal cortex in cognitive-motor interference: Polarity-specific effects of transcranial direct current stimulation.

Behavioural brain research·2026

Effects of the Color Narrative Preventive Intervention Using Occupational Storytelling: A Randomized Controlled Trial.

The American journal of occupational therapy : official publication of the American Occupational Therapy Association·2026

Primary Hyperhidrosis: A Review of Epidemiology, Pathophysiology and Management.

Acta dermato-venereologica·2026

Connecting Skin and Gut in Dermatitis Herpetiformis: Insights from Gluten Challenge Transcriptomics.

Acta dermato-venereologica·2026

Narrow-band UV-B (TL-01) Phototherapy Exposure and Skin Cancer Risk: A Nested Case-control Study.

Acta dermato-venereologica·2026

The Efficacy of Different Treatment Options in Cutaneous Sarcoidosis: A Meta-analysis of RCTs.

Acta dermato-venereologica·2026

Temporal Inflammatory Profile in Skin Surface after Oronasal Mask Application.

Acta dermato-venereologica·2026

A Delphi Consensus on Tildrakizumab Dosing and Titration in Moderate-to-Severe Plaque Psoriasis.

Acta dermato-venereologica·2026

From Approximation to Validation: Rethinking Frequency-Matched Acoustic Models of Cochlear Implants.

Ear and hearing·2026

A bacterial protein inhibitor of dUTPase disrupts zebrafish embryogenesis through a conserved active-site mechanism.

Protein science : a publication of the Protein Society·2026

Successful management of acute respiratory distress syndrome secondary to type A aortic dissection using venovenous oxygenation: A case report.

Perfusion·2026

When Subtle Guiding Catheter-Induced Stent Deformation Leads to Abluminal Guidewire Passage: Successful IVUS Tip-Detection-Guided Bailout.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions·2026

Guide Extension and Balloon-Assisted Retrieval of an Entrapped Embolic Protection Device Within a Coronary Stent: A Case Report and In Vitro Analysis.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions·2026

Designing intranasal formulations for Alzheimer's disease: A material-based perspective.

Tzu chi medical journal·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