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Summary Expression Phenotypes Gene Literature (100) GO Terms (2) Nucleotides (331) Proteins (82) Interactants (125) Wiki
XB--948121

Papers associated with arfgap1 (and Disease Ontology)



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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants., Rinné S, Oertli A, Nagel C, Tomsits P, Jenewein T, Kääb S, Kauferstein S, Loewe A, Beckmann BM, Decher N., Int J Mol Sci. January 10, 2023; 24 (2):                       

Pharmacological rescue of specific long QT variants of KCNQ1/KCNE1 channels., Zou X, Wu X, Sampson KJ, Colecraft HM, Larsson HP, Kass RS., Front Physiol. January 1, 2022; 13 902224.                      

Bioelectric signaling: Reprogrammable circuits underlying embryogenesis, regeneration, and cancer., Levin M., Cell. April 15, 2021;               

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):             

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 10009.              

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): 1452-9.

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R., J Clin Invest. August 1, 2002; 110 (3): 381-8.

A constitutively open potassium channel formed by KCNQ1 and KCNE3., Schroeder BC, Waldegger S, Fehr S, Bleich M, Warth R, Greger R, Jentsch TJ., Nature. January 13, 2000; 403 (6766): 196-9.

Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants., Abitbol I, Peretz A, Lerche C, Busch AE, Attali B., EMBO J. August 2, 1999; 18 (15): 4137-48.

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