Severe Arrhythmia Disorder Caused by Cardiac L-Type Calcium Channel Mutations
Splawski, Igor, Timothy, Katherine W., Decher, Niels, Kumar, Pradeep, Sachse, Frank B., Beggs, Alan H., Sanguinetti, Michael C., Keating, Mark T.
Published in Proceedings of the National Academy of Sciences - PNAS (07.06.2005)
Published in Proceedings of the National Academy of Sciences - PNAS (07.06.2005)
Get full text
Journal Article
Tesidolumab (LFG316) for treatment of C5-variant patients with paroxysmal nocturnal hemoglobinuria
Nishimura, Jun-Ichi, Ando, Kiyoshi, Masuko, Masayoshi, Noji, Hideyoshi, Ito, Yoshikazu, Mayer, Jiri, Griskevicius, Laimonas, Bucher, Christoph, Müllershausen, Florian, Gergely, Peter, Rozenberg, Izabela, Schubart, Anna, Chawla, Raghav, Rondeau, Jean-Michel, Roguska, Michael, Splawski, Igor, Keating, Mark T, Johnson, Leslie, Danekula, Rambabu, Bagger, Morten, Watanabe, Yoko, Haraldsson, Börje, Kanakura, Yuzuru
Published in Haematologica (Roma) (01.06.2022)
Published in Haematologica (Roma) (01.06.2022)
Get full text
Journal Article
CACNA1H Mutations in Autism Spectrum Disorders
Splawski, Igor, Yoo, Dana S., Stotz, Stephanie C., Cherry, Allison, Clapham, David E., Keating, Mark T.
Published in The Journal of biological chemistry (04.08.2006)
Published in The Journal of biological chemistry (04.08.2006)
Get full text
Journal Article
A Cardiac Arrhythmia Syndrome Caused by Loss of Ankyrin-B Function
Mohler, Peter J., Splawski, Igor, Napolitano, Carlo, Bottelli, Georgia, Sharpe, Leah, Timothy, Katherine, Priori, Silvia G., Keating, Mark T., Bennett, Vann, Latorre, Ramon
Published in Proceedings of the National Academy of Sciences - PNAS (15.06.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (15.06.2004)
Get full text
Journal Article
Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia
Splawski, Igor, Timothy, Katherine W., Tateyama, Michihiro, Clancy, Colleen E., Malhotra, Alka, Beggs, Alan H., Cappuccio, Francesco P., Sagnella, Giuseppe A., Kass, Robert S., Keating, Mark T.
Published in Science (American Association for the Advancement of Science) (23.08.2002)
Published in Science (American Association for the Advancement of Science) (23.08.2002)
Get full text
Journal 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, Michael J, Splawski, Igor, Makielski, Jonathan C, Tester, David J, Will, Melissa L, Timothy, Katherine W, Keating, Mark T, Jones, Gregg, Chadha, Monica, Burrow, Christopher R, Stephens, J Claiborne, Xu, Chuanbo, Judson, Richard, Curran, Mark E
Published in Heart rhythm (01.11.2004)
Published in Heart rhythm (01.11.2004)
Get more information
Journal Article
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
Curran, Mark E, Splawski, Igor, Timothy, Katherine W, Vincen, G.Michael, Green, Eric D, Keating, Mark T
Published in Cell (10.03.1995)
Published in Cell (10.03.1995)
Get full text
Journal Article
Long QT Syndrome-associated Mutations in the S4-S5 Linker of KvLQT1 Potassium Channels Modify Gating and Interaction with minK Subunits
Franqueza, Laura, Lin, Monica, Splawski, Igor, Keating, Mark T., Sanguinetti, Michael C.
Published in The Journal of biological chemistry (23.07.1999)
Published in The Journal of biological chemistry (23.07.1999)
Get full text
Journal Article
TRPM1 forms ion channels associated with melanin content in melanocytes
Oancea, Elena, Vriens, Joris, Brauchi, Sebastian, Jun, Janice, Splawski, Igor, Clapham, David E
Published in Science signaling (12.05.2009)
Published in Science signaling (12.05.2009)
Get more information
Journal Article
4 ANGIOPOIETIN-LIKE 4 ANTIBODIES AND METHODS OF USE
SPLAWSKI IGOR, VOZNESENSKY ANDREI IGOREVICH, CEBE REGIS, TRAUGER JOHN
Year of Publication 30.04.2024
Get full text
Year of Publication 30.04.2024
Patent
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
Splawski, Igor, Timothy, Katherine W, Sharpe, Leah M, Decher, Niels, Kumar, Pradeep, Bloise, Raffaella, Napolitano, Carlo, Schwartz, Peter J, Joseph, Robert M, Condouris, Karen, Tager-Flusberg, Helen, Priori, Silvia G, Sanguinetti, Michael C, Keating, Mark T
Published in Cell (01.10.2004)
Published in Cell (01.10.2004)
Get full text
Journal Article
Compound mutations: A common cause of severe long-Qt syndrome
WESTENSKOW, Peter, SPLAWSKI, Igor, TIMOTHY, Katherine W, KEATING, Mark T, SANGUINETTI, Michael C
Published in Circulation (New York, N.Y.) (20.04.2004)
Published in Circulation (New York, N.Y.) (20.04.2004)
Get full text
Journal Article
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
Abbott, G W, Sesti, F, Splawski, I, Buck, M E, Lehmann, M H, Timothy, K W, Keating, M T, Goldstein, S A
Published in Cell (16.04.1999)
Published in Cell (16.04.1999)
Get full text
Journal Article
EPO COMPOSITIONS AND METHODS FOR ANTIBODIES TARGETING EPO
ROGUSKA MICHAEL, RUTZ MARK ANTHONY, SPLAWSKI IGOR, TISSOT DAGUETTE KATRIN ULRIKE, GHOSH JOY
Year of Publication 01.04.2021
Get full text
Year of Publication 01.04.2021
Patent
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
Splawski, Igor, Timothy, Katherine W., Sharpe, Leah M., Decher, Niels, Kumar, Pradeep, Bloise, Raffaella, Napolitano, Carlo, Schwartz, Peter J., Joseph, Robert M., Condouris, Karen, Tager-Flusberg, Helen, Priori, Silvia G., Sanguinetti, Michael C., Keating, Mark T.
Published in Cell (01.10.2004)
Published in Cell (01.10.2004)
Get full text
Journal Article
Spectrum of mutations in long-QT syndrome genes : KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
SPLAWSKI, I, JIAXIANG SHEN, KEATING, M. T, TIMOTHY, K. W, LEHMANN, M. H, PRIORI, S, ROBINSON, J. L, MOSS, A. J, SCHWARTZ, P. J, TOWBIN, J. A, VINCENT, G. M
Published in Circulation (New York, N.Y.) (05.09.2000)
Published in Circulation (New York, N.Y.) (05.09.2000)
Get full text
Journal Article
Genomic Structure of Three Long QT Syndrome Genes:KVLQT1, HERG,andKCNE1
Splawski, Igor, Shen, Jiaxiang, Timothy, Katherine W., Vincent, G.Michael, Lehmann, Michael H., Keating, Mark T.
Published in Genomics (San Diego, Calif.) (01.07.1998)
Published in Genomics (San Diego, Calif.) (01.07.1998)
Get full text
Journal Article
Identification and characterization of human GDF15 knockouts
Gurtan, Allan M, Khalid, Shareef, Koch, Christopher, Khan, Maleeha Zaman, Lamarche, Lindsey B, Splawski, Igor, Dolan, Elizabeth, Carrion, Ana M, Zessis, Richard, Clement, Matthew E, Chen, Zhiping, Lindsley, Loren D, Chiu, Yu-Hsin, Streeper, Ryan S, Denning, Daniel P, Goldfine, Allison B, Doyon, Brian, Abbasi, Ali, Harrow, Jennifer L, Tsunoyama, Kazuhisa, Asaumi, Makoto, Kou, Ikuyo, Shuldiner, Alan R, Rodriguez-Flores, Juan L, Rasheed, Asif, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Raza, Syed Shahzaib, Sultana, Riffat, Jalal, Anjum, Saeed, Muhammad Hamid, Abbas, Shahid, Memon, Fazal Rehman, Ishaq, Mohammad, Dominy, John E, Saleheen, Danish
Published in Nature metabolism (26.09.2024)
Published in Nature metabolism (26.09.2024)
Get more information
Journal Article
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome : ECG findings identify genotypes
LI ZHANG, TIMOTHY, Katherine W, YANOWITZ, Frank, BENHORIN, Jesaia, MOSS, Arthur J, SCHWARTZ, Peter J, ROBINSON, Jennifer L, QING WANG, ZAREBA, Wojciech, KEATING, Mark T, TOWBIN, Jeffrey A, NAPOLITANO, Carlo, VINCENT, G. Michael, MEDINA, Aharon, LEHMANN, Michael H, FOX, Jolene, GIULI, Lisa C, JIAXIANG SHEN, SPLAWSKI, Igor, PRIORI, Silvia G, COMPTON, Steven J
Published in Circulation (New York, N.Y.) (05.12.2000)
Published in Circulation (New York, N.Y.) (05.12.2000)
Get full text
Journal Article