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7 Cards in this Set
- Front
- Back
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Primary cilia dyskinesia
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Chronic respiratory distress, otitis media, persistent cough, and asthma. Autosomal recessive disorder. Dynein arms or radial spokes are missing or dysfunctional. Immotile cilia does not move debris out of sensitive areas
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Connexin mutations
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Connexin 26 mutation associated with deafness. Connexin 32 mutation associated with CharcotMarieTooth neuropathy. Connexin 50 mutation associated with cataracts
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Collagen Degradation
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Cancer cells produce enzymes that degrade collagen, which allows invasion and metastasis. Cadherin expression decreases. Collagenase IV compromises basement membrane.
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Marfan Syndrome
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Autosomal dominant disorder caused by mutation in FBN1 gene. Mutated fibrillin creates compromised elastin fibers. Present tall stature, long limbs, extreme nearsightedness, and curved spine.
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Duchenne Muscular Dystrophy
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Genetic mutation that creates the absence of dystrophin. Dystrophin join the muscle cytoskeleton to the extracellular matrix. This leads to progressive muscle degeneration.
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Botulinum Toxin
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Inhibits the release of ACh at neuromuscular junction
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Reactive lymphadenitis
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Enlargement of lymph nodes secondary to bacteria
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