IndraLab

Statements

COL9A2 activates SCN8A. 8 / 8
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"So far, mutations in COMP and COL9A2 have been shown to cause MED phenotype."
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"Because COL9A2 and COL9A3 mutations can cause MED, one could expect COL9A1 to be another locus for MED."
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"One of the affected family members had a double layered patella, which is frequently seen in patients with autosomal recessive MED caused by DTDST mutations and sporadically in the dominant form of MED caused by COL9A2 defect."
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"Because of the recent discovery that a mutation in the intron 3 splice-donor site of COL9A2 produces the Fairbank type of MED (Muragaki et al. 1996), we have screened affected individuals from 28 unre[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
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"Muragaki et al. (1996) and van Mourik et al. (1998) reported that a splice site mutation in COL9A2 has been shown to cause MED of an unclassified form in one family."
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"On the other hand, this is not an exclusive feature of DTDST defect considering that XREF_BIBR observed it in a 12-year-old boy with an autosomal dominant form of MED caused by mutation in the COL9A2 gene."
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"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."
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"The phenotype caused by the COL9A3 mutation is similar to that caused by the mutation in the COL9A2 gene, thus emphasizing the potential role of the COL3 domain in the pathogenesis of MED."
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