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

Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

3.3K
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
3.3K
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

584
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
584
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

618
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
618
Psychosis: Goals of Pharmacotherapy01:26

Psychosis: Goals of Pharmacotherapy

653
Antipsychotic drugs are a crucial treatment method for acute and chronic psychoses, bipolar illness, and behavioral disorders. The selection of these drugs depends on several factors, including the state of the disease, clinical judgment, possible drug interactions, and the patient's sensitivity to adverse effects. In immediate scenarios, such as delirium and dementia, short-term treatment with low doses of high-potency typical or atypical agents can effectively manage symptom exacerbation.
653
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

605
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
605
Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

469
Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
469

You might also read

Related Articles

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

Sort by
Same author

Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations.

European journal of human genetics : EJHG·2026
Same author

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.

American journal of medical genetics. Part C, Seminars in medical genetics·2026
Same author

Distinct mechanisms of CNV formation at the human 15q13.3 locus.

bioRxiv : the preprint server for biology·2026
Same author

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

American journal of medical genetics. Part A·2025
Same author

Navigating Drug Discovery for Myhre Syndrome: The Complexity of a Multisystemic Rare Disease.

American journal of medical genetics. Part C, Seminars in medical genetics·2025
Same author

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical Phenotypes.

Neurology. Genetics·2025

Related Experiment Video

Updated: Mar 17, 2026

A Mouse Model of Mechanotransduction-driven, Human-like Hypertrophic Scarring
05:54

A Mouse Model of Mechanotransduction-driven, Human-like Hypertrophic Scarring

Published on: November 29, 2024

2.3K

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Alessandro De Falco1,2,3, Alfonso Manuel D'Alessio1,2,3, Nicola Brunetti-Pierri1,2,3

  • 1Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|March 16, 2026
PubMed
Summary

Myhre Syndrome is a rare connective tissue disorder caused by SMAD4 gene variants, leading to progressive fibrosis across multiple organ systems. Future therapies may target TGF-β signaling and fibrosis, addressing current treatment limitations.

More Related Videos

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
02:22

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection

Published on: April 12, 2024

1.1K
Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder
11:17

Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder

Published on: November 25, 2025

621

Related Experiment Videos

Last Updated: Mar 17, 2026

A Mouse Model of Mechanotransduction-driven, Human-like Hypertrophic Scarring
05:54

A Mouse Model of Mechanotransduction-driven, Human-like Hypertrophic Scarring

Published on: November 29, 2024

2.3K
Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
02:22

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection

Published on: April 12, 2024

1.1K
Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder
11:17

Protocol for Repetitive Transcranial Magnetic Stimulation with Symptom Provocation to Treat Obsessive-compulsive Disorder

Published on: November 25, 2025

621

Area of Science:

  • Genetics and Molecular Biology
  • Connective Tissue Disorders
  • Fibrotic Diseases

Background:

  • Myhre Syndrome (MYHRS) is a rare, multisystem connective tissue disorder.
  • It stems from gain-of-function variants in the SMAD4 gene, crucial for TGF-β signaling and extracellular matrix.
  • MYHRS presents a progressive fibrotic phenotype impacting skeletal, cardiovascular, respiratory, and integumentary systems.

Purpose of the Study:

  • To review the current understanding of Myhre Syndrome.
  • To explore potential future therapeutic strategies for MYHRS.
  • To identify unmet needs in clinical and biochemical endpoints for therapy development.

Main Methods:

  • Literature review of Myhre Syndrome.
  • Discussion of potential therapeutic targets including TGF-β inhibitors and anti-fibrotic drugs.
  • Analysis of current research gaps and future directions.

Main Results:

  • MYHRS is characterized by short stature, joint contractures, cardiac defects, subglottic stenosis, and skin thickening.
  • Neurodevelopmental disorders, such as autism spectrum disorder, can also occur.
  • Significant phenotypic variability exists among individuals with MYHRS despite recurrent mutations.

Conclusions:

  • Current treatment for MYHRS is purely symptomatic, with no disease-modifying therapies available.
  • Investigational therapies include TGF-β inhibitors, anti-fibrotic agents, and gene editing.
  • Further research is needed to define clinical and biochemical endpoints for effective therapy evaluation.