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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Cytoskeletal Linker Proteins - Plakins01:09

Cytoskeletal Linker Proteins - Plakins

Plakins are large proteins with binding domains for microtubules, microfilaments, intermediate filaments, and membrane-associated protein complexes at cell junctions. Plakin functions are evolutionarily conserved and are primarily involved in organizing the different components of the cytoskeleton by crosslinking them to each other and connecting them to the cell-matrix and cell adhesion complexes. They are also known to interact with signal transducers, serve as scaffolds for signaling...
Bone Disorders01:29

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Cellular Adaptation IV: Dysplasia and Metaplasia01:24

Cellular Adaptation IV: Dysplasia and Metaplasia

DysplasiaDysplasia refers to abnormal changes in the size, shape, and organization of mature cells, characterized by pleomorphism, nuclear abnormalities, and increased mitotic activity. It commonly affects epithelial tissues, including the cervix, gastrointestinal tract, respiratory mucosa, and endometrium. Although it may occur alongside hyperplasia, dysplasia is not a true adaptive response but a preneoplastic change with potential to progress to cancer.When confined above the basement...
Bone Remodeling01:40

Bone Remodeling

Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can exist in...

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Related Experiment Video

Updated: May 20, 2026

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4
12:09

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

Published on: December 31, 2013

TRPV4-associated skeletal dysplasias.

Gen Nishimura1, Ekkehart Lausch, Ravi Savarirayan

  • 1Génétique Médicale, CHUV, Av. Decker 2, 1011 Lausanne, Switzerland.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|July 14, 2012
PubMed
Summary
This summary is machine-generated.

Dominant mutations in the TRPV4 gene cause a spectrum of bone dysplasias and can also lead to neurological disorders. Understanding these TRPV4 gene mutations is key to diagnosing and potentially treating these rare conditions.

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Tissue Triage and Freezing for Models of Skeletal Muscle Disease
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Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

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Last Updated: May 20, 2026

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4
12:09

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

Published on: December 31, 2013

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

Area of Science:

  • Genetics
  • Molecular Biology
  • Skeletal Dysplasias

Background:

  • Dominant mutations in the TRPV4 gene are linked to a range of skeletal dysplasias, including metatropic dysplasia (MD) and spondylometaphyseal dysplasia Kozlowski type (SMDK).
  • TRPV4 gene variants have also been associated with distinct neurological conditions, such as congenital spinal muscular atrophy and hereditary motor and sensory neuropathy.
  • Some patients present with a combined phenotype of skeletal dysplasia and peripheral neuropathy, highlighting the diverse roles of TRPV4.

Purpose of the Study:

  • To summarize the phenotypic spectrum associated with dominant TRPV4 mutations.
  • To highlight the association of TRPV4 variants with both skeletal and neurological disorders.
  • To discuss the current understanding and remaining questions regarding genotype-phenotype correlations in TRPV4-related conditions.

Main Methods:

  • Review of existing literature on TRPV4 mutations and associated phenotypes.
  • Analysis of reported genotype-phenotype correlations.
  • In vitro studies on calcium channel function (mentioned as context for ongoing research).

Main Results:

  • Over 50 TRPV4 mutations identified, with specific codons (P799 and R594) as mutational hotspots.
  • Established phenotypic spectrum includes lethal/nonlethal MD, SMDK, and autosomal dominant brachyolmia, with rare variant phenotypes also described.
  • TRPV4 mutations can cause skeletal dysplasia, peripheral neuropathy, or a combination of both.

Conclusions:

  • TRPV4 mutations lead to a complex spectrum of skeletal and neurological disorders.
  • While many mutations activate the calcium channel, the precise mechanisms causing disease remain unclear.
  • Clinical and radiographic assessment can guide molecular genetic analysis for suspected TRPV4-related disorders.