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Questions and Answers
What is the consequence of genetic and acquired disorders that affect the hemidesmosome or the dermal molecules that connect to it?
Life-threatening epidermal fragility
What is the function of gap junctions in cells?
Allowing for the rapid exchange of small molecules up to 1kDa
What is the composition of a connexon?
6 connexins
What is the result of dominant mutations in connexin26, Cx26?
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What is the purpose of connexons aggregating into larger units known as gap junctional plaques?
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What is the effect of dysfunction of skin-expressed connexins?
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What is the role of gap junctions containing Cx26 in the inner ear?
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What is the function of tight junctions in the skin?
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What are the main proteins that make up tight junctions?
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What is the result of homozygous loss of function mutations in the gene coding for Claudin-1?
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What is one of the symptoms of NISCh syndrome?
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What is another symptom of NISCh syndrome?
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