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

Acute Coronary Syndrome III: Diagnostic Studies01:30

Acute Coronary Syndrome III: Diagnostic Studies

Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
Asthma III: Clinical Manifestations01:13

Asthma III: Clinical Manifestations

Asthma presents with a characteristic pattern of episodic respiratory symptoms that reflect underlying airway inflammation, bronchoconstriction, and mucus hypersecretion. Although severity varies among individuals, certain clinical manifestations are considered hallmarks of the disorder and often guide diagnosis and assessment.Respiratory SymptomsA persistent cough is one of the most common early features of asthma. It is frequently dry and tends to worsen at night or in the early morning,...
Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum sickness, a systemic...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...
Mitral Valve Prolapse III: Nursing Management01:19

Mitral Valve Prolapse III: Nursing Management

The nursing management of Mitral Valve Prolapse, or MVP, centers around patient education, symptom monitoring, and lifestyle modifications.Patient Education on MVP Diagnosis and Heredity: Nurses should provide comprehensive education about MVP, a condition where the mitral valve does not close appropriately during heartbeats. This education often includes the condition's pathophysiology, symptoms, and potential complications, like arrhythmias or mitral regurgitation. Though not fully...
Nephrotic Syndrome III : Nursing Management01:24

Nephrotic Syndrome III : Nursing Management

Nursing management for nephrotic syndrome adapts as the disease progresses, with strategies evolving to address advancing symptoms and complications.Early-Stage Management In the early stages, nursing interventions for nephrotic syndrome resemble those used in managing acute glomerulonephritis, focusing on symptom monitoring, fluid balance, and managing mild to moderate edema.Vital Signs: Regularly monitor blood pressure, pulse, respiratory rate, and temperature to promptly identify...

You might also read

Related Articles

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

Sort by
Same author

Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.

Translational psychiatry·2026
Same author

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Nature genetics·2026
Same author

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases.

European journal of immunology·2026
Same author

Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies.

medRxiv : the preprint server for health sciences·2025
Same author

Childhood POLG-related disorders: Focus on polyradiculoneuropathy.

Molecular genetics and metabolism·2025
Same author

Preconception carrier screening among assisted reproduction patients: insights from a monocentric survey in France.

Reproductive biomedicine online·2025
Same journal

Control of muscle mass and accretion.

Best practice & research. Clinical endocrinology & metabolism·2026
Same journal

Multiple endocrine neoplasia type 2: From molecular genetics to precision therapy.

Best practice & research. Clinical endocrinology & metabolism·2026
Same journal

Nutritional advice for patients with obesity and prediabetes.

Best practice & research. Clinical endocrinology & metabolism·2026
Same journal

Effects of prolonged physical training on skeletal muscle mass accrual throughout the life span.

Best practice & research. Clinical endocrinology & metabolism·2026
Same journal

Type 2 diabetes and obesity in South Asian patients with polyendocrine metabolic ovarian syndrome: The emerging role of metabolomics.

Best practice & research. Clinical endocrinology & metabolism·2026
Same journal

Stress and the interaction of the hypothalamic-pituitary-adrenal axis with other pituitary axes and its consequences on muscle mass.

Best practice & research. Clinical endocrinology & metabolism·2026
See all related articles

Related Experiment Video

Updated: Jun 3, 2026

State-Dependency Effects on TMS: A Look at Motive Phosphene Behavior
12:38

State-Dependency Effects on TMS: A Look at Motive Phosphene Behavior

Published on: December 28, 2010

The 3M syndrome.

Céline Huber1, Arnold Munnich, Valerie Cormier-Daire

  • 1Department of Genetics, Paris Descartes University, INSERM U781, Hôpital Necker Enfants Malades, 149 rue de Sèvres, Paris, France. huberceline@hotmail.com

Best Practice & Research. Clinical Endocrinology & Metabolism
|March 15, 2011
PubMed
Summary
This summary is machine-generated.

3M syndrome is a rare genetic disorder causing severe growth retardation and distinctive facial features. Mutations in CUL7 and OBSL1 genes are the primary causes, though a third gene may also be involved.

More Related Videos

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Related Experiment Videos

Last Updated: Jun 3, 2026

State-Dependency Effects on TMS: A Look at Motive Phosphene Behavior
12:38

State-Dependency Effects on TMS: A Look at Motive Phosphene Behavior

Published on: December 28, 2010

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • 3M syndrome is a rare autosomal recessive disorder.
  • It is characterized by severe pre- and post-natal growth retardation, facial dysmorphism, and macrocephaly.
  • Skeletal anomalies include long slender bones and tall vertebral bodies.

Purpose of the Study:

  • To summarize the genetic basis of 3M syndrome.
  • To identify the primary genes responsible for the disorder.
  • To highlight the clinical and radiological similarities between mutations in different genes.

Main Methods:

  • Literature review of genetic studies on 3M syndrome.
  • Analysis of mutation data from affected individuals.
  • Clinical and radiological assessment comparison.

Main Results:

  • Mutations in CUL7 and OBSL1 genes are identified as causes of 3M syndrome.
  • CUL7 mutations account for 77.5% of cases, while OBSL1 mutations account for 16.3%.
  • No clinical or radiological differences distinguish between CUL7 and OBSL1 mutations.

Conclusions:

  • CUL7 and OBSL1 are the major genes implicated in 3M syndrome.
  • The genetic etiology of some cases remains unexplained, suggesting a potential third gene.
  • Understanding the genetic basis is crucial for diagnosis and potential future therapies.