Related Experiment Video

Updated: Aug 17, 2026

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

Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease

A Giedion

    Clinical Orthopaedics and Related Research
    |January 1, 1976
    PubMed

    More Related Videos

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis09:20

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

    Published on: December 18, 2019

    Related Concept Videos

    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,...
    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.
    Desmosomes01:05

    Desmosomes

    The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
    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...
    Peripheral Artery Disease I: Introduction01:30

    Peripheral Artery Disease I: Introduction

    Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
    Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

    Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

    Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...