Structural Basis for KCNQ1 Long-QT Syndrome Disease causing Mutations

被引：0
|
作者：
Taylor, Keenan C. [1 ]
Huang, Hui [1 ]
Kroncke, Brett [1 ]
Sanders, Charles [1 ]
机构：
[1] Vanderbilt, Biochem, Nashville, TN USA
来源：
BIOPHYSICAL JOURNAL | 2016年 / 110卷 / 03期
关键词：
D O I：
10.1016/j.bpj.2015.11.1270
中图分类号：
Q6 [生物物理学];
学科分类号：
071011 ;
摘要：
1144-Pos
引用
收藏
页码：230A / 230A
页数：1
相关论文
共 50 条
  • [31] Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene
    Tsuji, Keiko
    Akao, Masaharu
    Ishii, Takahiro M.
    Ohno, Seiko
    Makiyama, Takeru
    Takenaka, Kotoe
    Doi, Takahiro
    Haruna, Yoshisumi
    Yoshida, Hidetada
    Nakashima, Toshihiro
    Kita, Toru
    Horie, Minoru
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2007, 42 (03) : 662 - 669
  • [32] Mutations in the long QT gene, KCNQ1, are an uncommon cause of atrial fibrillation
    Ellinor, PT
    Moore, RK
    Patton, KK
    Ruskin, JN
    Pollak, MR
    MacRae, CA
    HEART, 2004, 90 (12) : 1487 - 1488
  • [33] Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations
    Huang, Hui
    Kuenze, Georg
    Smith, Jarrod A.
    Taylor, Keenan C.
    Duran, Amanda M.
    Hadziselimovic, Arina
    Meiler, Jens
    Vanoye, Carlos G.
    George, Alfred L., Jr.
    Sanders, Charles R.
    SCIENCE ADVANCES, 2018, 4 (03):
  • [34] Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1
    Harmer, Stephen C.
    Mohal, Jagdeep S.
    Royal, Alice A.
    McKenna, William J.
    Lambiase, Pier D.
    Tinker, Andrew
    BIOCHEMICAL JOURNAL, 2014, 462 : 133 - 142
  • [35] Quantitative analysis of aberrant splicing caused by a splice-site mutation in KCNQ1 gene of a patient with long-QT syndrome
    Tsuji, K
    Akao, M
    Ishii, T
    Makiyama, T
    Takenaka, K
    Ohno, S
    Doi, T
    Kiyohara, Y
    Horie, M
    CIRCULATION, 2004, 110 (17) : 95 - 95
  • [36] Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome
    Grunnet, M
    Behr, ER
    Calloe, K
    Hofman-Bang, J
    Till, J
    Christiansen, M
    McKenna, WJ
    Olesen, SP
    Schmitt, N
    HEART RHYTHM, 2005, 2 (11) : 1238 - 1249
  • [37] Mutation analysis in congenital long QT syndrome -: A case with missense mutations in KCNQ1 and SCN5A
    Paulussen, A
    Matthijs, G
    Gewillig, M
    Verhasselt, P
    Cohen, N
    Aerssens, J
    GENETIC TESTING, 2003, 7 (01): : 57 - 61
  • [38] Molecular basis of the long-QT syndrome - Reply
    Keating, MT
    NEW ENGLAND JOURNAL OF MEDICINE, 1997, 337 (14): : 1012 - 1013
  • [39] KCNQ1 Long QT Syndrome Patients Have Hyperinsulinemia and Symptomatic Hypoglycemia
    Torekov, Signe S.
    Iepsen, Eva
    Christiansen, Michael
    Linneberg, Allan
    Pedersen, Oluf
    Holst, Jens J.
    Kanters, Jorgen K.
    Hansen, Torben
    DIABETES, 2014, 63 (04) : 1315 - 1325
  • [40] Three Generations of Hereditary Long-QT Syndrome with Complete Penetrance Caused by the p.G316E KCNQ1 Mutation
    Teresa Viadero, M.
    Rubin, Esther
    Amigo, Teresa
    Gonzalez-Lamuno, Domingo
    PEDIATRIC CARDIOLOGY, 2011, 32 (01) : 102 - 104
12345