IndraLab

Statements

Mutated COMP activates SCN8A. 5 / 5
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"The majority (> 85%) of COMP mutations causing PSACH or MED are found in the exons encoding the T3 repeats, and the disease mechanism has been characterised in detail."
15880723
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"Both of these factors have been shown to be activated in a mouse model of PSACH MED caused by a Comp mutation and the former in a mouse model of MCDS caused by a mutation in col10a1."
20428984
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"All COMP mutations causing MED or PSACH are in either the TSP type III repeats (amino acids 268-528) or the C-terminal globular domain (amino acids 532-746) XREF_BIBR, XREF_BIBR, whereas the p.V66E mutation identified in Family 1 is located in the N-terminal homopentamer forming domain."
32686688
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"Such mechanism is similar to that of a point mutation of cartilage oligomeric matrix protein (COMP), which also leads to MED or related pseudoachondroplasia [XREF_BIBR]."
18518980
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"We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3."
11200990