long QT syndrome 1

Literature (8)

Literature for DOID 0110644: long QT syndrome 1

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

:
(

Denotes literature images)

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene., Tsuji K,Akao M,Ishii TM,Ohno S,Makiyama T,Takenaka K,Doi T,Haruna Y,Yoshida H,Nakashima T,Kita T,Horie M, J Mol Cell Cardiol. March 1, 2007; 42(3):1095-8584.
A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels., Gustina AS,Trudeau MC, Proc Natl Acad Sci U S A. August 4, 2009; 106(31):1091-6490.
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Biochim Biophys Acta. April 1, 2011; 1812(4):0006-3002.
Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process., Tsuji-Wakisaka K,Akao M,Ishii TM,Ashihara T,Makiyama T,Ohno S,Toyoda F,Dochi K,Matsuura H,Horie M, Biochim Biophys Acta. November 1, 2011; 1812(11):0006-3002.
Structural basis of slow activation gating in the cardiac I Ks channel complex., Strutz-Seebohm N,Pusch M,Wolf S,Stoll R,Tapken D,Gerwert K,Attali B,Seebohm G, Cell Physiol Biochem. January 1, 2011; 27(5):1421-9778.
Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Gene. December 10, 2012; 511(1):1879-0038.
High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB,Refaat MM,David JP,Mujezinovic A,Calloe K,Wojciak J,Nussbaum RL,Scheinman MM,Schmitt N, Sci Rep. January 12, 2015; 5:2045-2322.
Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness., Oertli A,Rinné S,Moss R,Kääb S,Seemann G,Beckmann BM,Decher N, Int J Mol Sci. January 23, 2021; 22(3):1422-0067.

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene., Tsuji K,Akao M,Ishii TM,Ohno S,Makiyama T,Takenaka K,Doi T,Haruna Y,Yoshida H,Nakashima T,Kita T,Horie M, J Mol Cell Cardiol. March 1, 2007; 42(3):1095-8584.

A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium channels., Gustina AS,Trudeau MC, Proc Natl Acad Sci U S A. August 4, 2009; 106(31):1091-6490.

Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Biochim Biophys Acta. April 1, 2011; 1812(4):0006-3002.

Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process., Tsuji-Wakisaka K,Akao M,Ishii TM,Ashihara T,Makiyama T,Ohno S,Toyoda F,Dochi K,Matsuura H,Horie M, Biochim Biophys Acta. November 1, 2011; 1812(11):0006-3002.

Structural basis of slow activation gating in the cardiac I Ks channel complex., Strutz-Seebohm N,Pusch M,Wolf S,Stoll R,Tapken D,Gerwert K,Attali B,Seebohm G, Cell Physiol Biochem. January 1, 2011; 27(5):1421-9778.

Impaired ion channel function related to a common KCNQ1 mutation - implications for risk stratification in long QT syndrome 1., Aidery P,Kisselbach J,Schweizer PA,Becker R,Katus HA,Thomas D, Gene. December 10, 2012; 511(1):1879-0038.

High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB,Refaat MM,David JP,Mujezinovic A,Calloe K,Wojciak J,Nussbaum RL,Scheinman MM,Schmitt N, Sci Rep. January 12, 2015; 5:2045-2322.

Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness., Oertli A,Rinné S,Moss R,Kääb S,Seemann G,Beckmann BM,Decher N, Int J Mol Sci. January 23, 2021; 22(3):1422-0067.