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Related Concept Videos

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...
Osteoclasts in Bone Remodeling01:31

Osteoclasts in Bone Remodeling

Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Bone Remodeling and Repair01:31

Bone Remodeling and Repair

Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Pleiotropy01:33

Pleiotropy

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,...

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Related Experiment Video

Updated: May 23, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

Osteonecrosis in genetic disorders.

Laura Masi1, Alberto Falchetti, Maria Luisa Brandi

  • 1Department of Internal Medicine University of Florence, Florence, Italy.

Clinical Cases in Mineral and Bone Metabolism : the Official Journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases
|March 31, 2012
PubMed
Summary
This summary is machine-generated.

Avascular necrosis of bone involves tissue abnormality due to cell stress. Genetic factors and gene mutations may play a role in osteonecrosis, potentially aiding future identification of high-risk patients.

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A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders
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A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders

Published on: June 8, 2014

Related Experiment Videos

Last Updated: May 23, 2026

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
09:20

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis

Published on: December 18, 2019

A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders
11:47

A Novel in vivo Gene Transfer Technique and in vitro Cell Based Assays for the Study of Bone Loss in Musculoskeletal Disorders

Published on: June 8, 2014

Area of Science:

  • Orthopedics
  • Genetics
  • Pathology

Background:

  • Avascular necrosis of bone (AVN) is a condition characterized by bone tissue death due to impaired blood supply.
  • It can arise from various disease processes causing significant cellular stress.
  • Genetic predisposition is increasingly recognized as a contributing factor in some cases of AVN.

Purpose of the Study:

  • To explore the potential role of genetic factors in the pathogenesis of avascular necrosis.
  • To investigate the link between gene mutations and the development of osteonecrosis.
  • To assess the future implications of genetic research for identifying at-risk individuals.

Main Methods:

  • Review of existing genetic studies on avascular necrosis.
  • Analysis of evidence supporting the role of genetic mutations in osteonecrosis.
  • Evaluation of the potential for genetic markers in risk assessment.

Main Results:

  • Evidence suggests a genetic component in certain forms of avascular necrosis.
  • Gene mutations are implicated in the underlying mechanisms of osteonecrosis.
  • Genetic research offers a promising avenue for future patient stratification.

Conclusions:

  • Genetic factors are likely involved in the pathogenesis of some avascular necrosis cases.
  • Understanding these genetic underpinnings is crucial for advancing osteonecrosis research.
  • Future genetic studies may lead to tools for early detection and risk identification in avascular necrosis.