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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance. , Steffensen AB., Sci Rep. January 12, 2015; 5 10009.
Six1 is a key regulator of the developmental and evolutionary architecture of sensory neurons in craniates. , Yajima H., BMC Biol. May 29, 2014; 12 40.
A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/ Ostm1 causes osteopetrosis with gingival hamartomas in cattle. , Sartelet A., Dis Model Mech. January 1, 2014; 7 (1): 119-28.
A single charged voltage sensor is capable of gating the Shaker K+ channel. , Gagnon DG., J Gen Physiol. May 1, 2009; 133 (5): 467-83.
Structural and functional role of the extracellular s5-p linker in the HERG potassium channel. , Liu J ., J Gen Physiol. November 1, 2002; 120 (5): 723-37.
A mutation linked with Bartter's syndrome locks Kir 1.1a (ROMK1) channels in a closed state. , Flagg TP., J Gen Physiol. November 1, 1999; 114 (5): 685-700.