IndraLab

Statements

MATN3 activates SCN8A. 6 / 6
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"Missense mutations in the gene encoding matrilin-3 (MATN3) have been shown to cause some forms of MED and the related disease bilateral heredity micro-ephyseal dysplasia."
19851784
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"MED is genetically heterogeneous and the use of similar mapping approaches has determined that mutations in the genes encoding type IX collagen and matrilin-3 also cause autosomal dominant forms of MED."
19851784
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"This new observation is of particular interest because mutations in MATN3 cause a MED skeletal phenotype, as well as osteoarthritis of the hand (Briggs and Chapman, 2002; Chapman et al., 2001; Stefans[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
15694129
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"Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3 and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases."
30740902
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"Mutations in genes coding cartilage oligomeric matrix protein (COMP), type IX collagen alpha 1, 2, and 3 chains (COL9A1, COL9A2, COL9A3), and matrilin 3 (MATN3) cause the dominantly inherited forms of MED, while homozygous or compound heterozygous mutations in diastrophic dysplasia sulfate transporter (DTDST or SLC26A2) gene cause recessively inherited MED (rMED, EDM4 OMIM 226900)."
20592910
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"The phenotype severity of the reported family seems milder than MED caused by MATN3, COMP, and DTDST mutations, and more severe than in patients with mutations in genes encoding collagen type IX."
30740902