Splawski I - Search Results

1

Tesidolumab (LFG316) for treatment of C5-variant patients with paroxysmal nocturnal hemoglobinuria.

Nishimura JI, Ando K, Masuko M, Noji H, Ito Y, Mayer J, Griskevicius L, Bucher C, Müllershausen F, Gergely P, Rozenberg I, Schubart A, Chawla R, Rondeau JM, Roguska M, Splawski I, Keating MT, Johnson L, Danekula R, Bagger M, Watanabe Y, Haraldsson B, Kanakura Y. Nishimura JI, et al. Among authors: splawski i. Haematologica. 2022 Jun 1;107(6):1483-1488. doi: 10.3324/haematol.2020.265868. Haematologica. 2022. PMID: 35263983 Free PMC article. No abstract available.

2

Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

Chen J, Zou A, Splawski I, Keating MT, Sanguinetti MC. Chen J, et al. Among authors: splawski i. J Biol Chem. 1999 Apr 9;274(15):10113-8. doi: 10.1074/jbc.274.15.10113. J Biol Chem. 1999. PMID: 10187793 Free article.

3

Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, Cappuccio FP, Sagnella GA, Kass RS, Keating MT. Splawski I, et al. Science. 2002 Aug 23;297(5585):1333-6. doi: 10.1126/science.1073569. Science. 2002. PMID: 12193783

4

Compound mutations: a common cause of severe long-QT syndrome.

Westenskow P, Splawski I, Timothy KW, Keating MT, Sanguinetti MC. Westenskow P, et al. Among authors: splawski i. Circulation. 2004 Apr 20;109(15):1834-41. doi: 10.1161/01.CIR.0000125524.34234.13. Epub 2004 Mar 29. Circulation. 2004. PMID: 15051636

5

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Splawski I, et al. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. doi: 10.1073/pnas.0502506102. Epub 2005 Apr 29. Proc Natl Acad Sci U S A. 2005. PMID: 15863612 Free PMC article.

6

CACNA1H mutations in autism spectrum disorders.

Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. Splawski I, et al. J Biol Chem. 2006 Aug 4;281(31):22085-22091. doi: 10.1074/jbc.M603316200. Epub 2006 Jun 5. J Biol Chem. 2006. PMID: 16754686 Free article.

7

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT. Splawski I, et al. Genomics. 1998 Jul 1;51(1):86-97. doi: 10.1006/geno.1998.5361. Genomics. 1998. PMID: 9693036

8

Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.

Franqueza L, Lin M, Shen J, Splawski I, Keating MT, Sanguinetti MC. Franqueza L, et al. Among authors: splawski i. J Biol Chem. 1999 Jul 23;274(30):21063-70. doi: 10.1074/jbc.274.30.21063. J Biol Chem. 1999. PMID: 10409658 Free article.

9

Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Splawski I, et al. Nat Genet. 1997 Nov;17(3):338-40. doi: 10.1038/ng1197-338. Nat Genet. 1997. PMID: 9354802

10

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. Splawski I, et al. Cell. 2004 Oct 1;119(1):19-31. doi: 10.1016/j.cell.2004.09.011. Cell. 2004. PMID: 15454078 Free article.

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