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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...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Genetic Lingo01:11

Genetic Lingo

Overview
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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.
What is the Skeletal System?01:02

What is the Skeletal System?

Overview

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Related Experiment Video

Updated: Jun 9, 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

Albright hereditary osteodystrophy.

Karola Stieler1, Dirk Schnabel, Saman Atugoda

  • 1Charité-University Medicine Berlin, Department of Dermatology and Allergy, Clinical Research Center for Hair and Skin Science (CRC), Charitéplatz, Berlin, Germany. karola.stieler@charite.de

Pediatric Dermatology
|August 27, 2010
PubMed
Summary
This summary is machine-generated.

Albright hereditary osteodystrophy with pseudohypoparathyroidism results from GNAS gene mutations. This report details a Tunisian boy exhibiting typical symptoms of this rare genetic disorder.

Area of Science:

  • Genetics and Developmental Biology
  • Endocrinology
  • Pediatrics

Background:

  • Albright hereditary osteodystrophy with pseudohypoparathyroidism (AHO-PHP) is a rare genetic disorder.

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Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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Published on: July 3, 2020

  • It is characterized by specific physical features and hormonal imbalances.
  • Maternal loss-of-function mutations in the GNAS gene are the primary cause.