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Related Concept Videos

Bone Disorders01:29

Bone Disorders

5.0K
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...
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Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
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Notch Signaling Pathway03:14

Notch Signaling Pathway

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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...
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Osteoclasts in Bone Remodeling01:31

Osteoclasts in Bone Remodeling

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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...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Bone Remodeling01:40

Bone Remodeling

40.2K
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.
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Related Experiment Video

Updated: Jan 10, 2026

The Creation of a Rat Model for Osteosarcopenia via Ovariectomy
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Osteoporosis Associated with SCN8A Mutation.

Daniyeh Khurram1, Kristyna Kupkova2, Larry D Mesner2

  • 1Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor, MI 48109, USA.

JCEM Case Reports
|November 21, 2025
PubMed
Summary
This summary is machine-generated.

A genetic variant in the SCN8A gene caused elevated bone-specific alkaline phosphatase and bone pain in a patient with epilepsy. Treatment with alendronate improved symptoms and lowered alkaline phosphatase levels.

Area of Science:

  • Genetics
  • Bone Biology
  • Neurology

Background:

Keywords:
SCN8A mutationelevated alkaline phosphataseepilepsylow bone mineral densityosteoblast

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  • A 26-year-old male presented with elevated bone-specific alkaline phosphatase (BSAP), chronic pain, and declining physical activity.
  • Medical history included a neurodevelopmental disorder with epilepsy; vitamin D deficiency was corrected, but BSAP remained high.
  • Imaging showed increased bone scintigraphy uptake and low bone mineral density without focal lesions.