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Page 1
Identification and characterization of human GDF15 knockouts.
Gurtan AM, Khalid S, Koch C, Khan MZ, Lamarche LB, Splawski I, Dolan E, Carrion AM, Zessis R, Clement ME, Chen Z, Lindsley LD, Chiu YH, Streeper RS, Denning DP, Goldfine AB, Doyon B, Abbasi A, Harrow JL, Tsunoyama K, Asaumi M, Kou I, Shuldiner AR, Rodriguez-Flores JL, Rasheed A, Jahanzaib M, Mian MR, Liaqat MB, Raza SS, Sultana R, Jalal A, Saeed MH, Abbas S, Memon FR, Ishaq M, Dominy JE, Saleheen D. Gurtan AM, et al. Among authors: splawski i. Nat Metab. 2024 Oct;6(10):1913-1921. doi: 10.1038/s42255-024-01135-3. Epub 2024 Sep 26. Nat Metab. 2024. PMID: 39327531
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.
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.
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.
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, Judson R, Curran ME. Ackerman MJ, et al. Among authors: splawski i. Heart Rhythm. 2004 Nov;1(5):600-7. doi: 10.1016/j.hrthm.2004.07.013. Heart Rhythm. 2004. PMID: 15851227
An intronic mutation causes long QT syndrome.
Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I. Zhang L, et al. Among authors: splawski i. J Am Coll Cardiol. 2004 Sep 15;44(6):1283-91. doi: 10.1016/j.jacc.2004.06.045. J Am Coll Cardiol. 2004. PMID: 15364333 Free article.
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. Mohler PJ, et al. Among authors: splawski i. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. doi: 10.1073/pnas.0402546101. Epub 2004 Jun 3. Proc Natl Acad Sci U S A. 2004. PMID: 15178757 Free PMC article.
25 results