IndraLab

Statements

KCNQ4 activates LIPC. 4 / 4
| 4
reach
"It has been demonstrated that HL in certain DFNA2 families is caused by mutations in KCNQ4, which are centromeric to MACF1."
40001331
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"As of October 2021, around 72 mutations in KCNQ4 have been reported to cause HL in humans, with a potential genotype–phenotype correlation, in which the truncating variants have been associated with severe phenotype as compared to non-truncating variants of KCNQ4 [26]."
| PMC
reach
"Conversely, screening of 80 hearing impaired families did not result in the identification of a single mutation in KCNQ4 causing HL (Talebizadeh et al., 1999)."
15276679
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"VPA is a candidate drug that slows down HL progression to increase the time window for the definite treatment of KCNQ4 p.W276S variant that induces genetic HL."
36982769