IndraLab

Statements

KCNQ1 binds PSMD4. 8 / 8
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"However, despite identification of other KCNQ1 mutations associated with AF, 14 the prevalence of KCNQ1 mutations probably is low, 15 in accordance with the finding that AF is genetically hetero[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
18313602
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"Interestingly, a cluster of gain of function KCNQ1 mutation that are associated with AF (S140G, V141M, Q147R) are located in this part of S1."
22529812
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"For example, while most KCNQ1 mutations associated with AF cause gain of function, a few loss-of-function mutations have been identified in familial AF patients."
27261823
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"Most of the identified gain-of-function KCNQ1 mutations associated with AF show similar slowed deactivation kinetics to various degrees [ xref – xref , xref , xref ]."
27261823
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"Mutations in the IKs channel leading to gain-of-function have previously been described in familial AF, yet this is the first time a loss-of-function mutation in KCNQ1 is associated with early-onset lone AF."
25786344
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"This is consistent with the findings of xref who reported that recurrent AF associated with the KCNQ1 V141M mutation was unresponsive to multiple anti-arrhythmic agents (failing to revert to sinus rhythm), including (hydro)quinidine ( xref )."
30337886
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"A gain of function in I Ks secondary to a KCNE1 deletion in mice 43 or KCNQ1 mutation in humans 11,14,15 has been associated with the development of AF."
18313602
sparser
"KCNQ1 mutations have previously been described in AF, yet this is the first time a mutation in KCNQ1 is associated with age-dependent bradycardia and persistent AF."
23989646