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Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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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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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...
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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.
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The lungs are nestled in a cavity, shielded by the pleura. The pleura, a form of serous membrane, wraps around each lung. This membrane arrangement consists of two layers: the visceral and parietal pleurae. The visceral pleura lines the surface of the lungIn contrast, the parietal pleura is the outer layer and contacts to the thoracic wall, the mediastinum, and the diaphragm. The hilum is the point of connection between the visceral and parietal layers. The space between the parietal and...

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Pleonostosis (Léri disease)

H L ROCHER

    Revue D'Orthopedie Et De Chirurgie De L'Appareil Moteur
    |March 19, 2010
    PubMed
    Summary

    No abstract available in PubMed .

    Keywords:
    BONES/diseases

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