Literature DB >> 9452080

Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

K Akimoto1, M Furutani, S Imamura, Y Furutani, H Kasanuki, A Takao, K Momma, R Matsuoka.   

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Year:  1998        PMID： 9452080     DOI： 10.1002/humu.1380110159

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  7 in total

1.  Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Authors:  Ling-Ping Lai; Yi-Ning Su; Fu-Tien Chiang; Jyh-Ming Juang; Yen-Bin Liu; Yi-Lwun Ho; Wen-Jone Chen; San-Jou Yeh; Chun-Chieh Wang; Yu-Lin Ko; Tsu-Juey Wu; Kwo-Chang Ueng; Meng-Huan Lei; Hsuan-Ming Tsao; Shih-Ann Chen; Tin-Kwang Lin; Mei-Hwan Wu; Huey-Ming Lo; Shoei K Stephen Huang; Jiunn-Lee Lin
Journal:  J Hum Genet       Date:  2005-09-10       Impact factor: 3.172

2.  Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.

Authors:  Liat Shushi; Batsheva Kerem; Maya Goldmit; Asher Peretz; Bernard Attali; Aron Medina; Jeffrey A Towbin; Junko Kurokawa; Robert S Kass; Jesaia Benhorin
Journal:  Ann Noninvasive Electrocardiol       Date:  2005-07       Impact factor: 1.468

3.  Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.

Authors:  Horst Wedekind; Thomas Bajanowski; Patrick Friederich; Günter Breithardt; Thomas Wülfing; Cornelia Siebrands; Birgit Engeland; Gerold Mönnig; Wilhelm Haverkamp; Bernd Brinkmann; Eric Schulze-Bahr
Journal:  Int J Legal Med       Date:  2005-07-13       Impact factor: 2.686

4.  Fluid flow modulates electrical activity in cardiac hERG potassium channels.

Authors:  Samrat Roy; M K Mathew
Journal:  J Biol Chem       Date:  2018-01-05       Impact factor: 5.157

5.  Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum.

Authors:  Jennifer L Smith; Allison R Reloj; Parvathi S Nataraj; Daniel C Bartos; Elizabeth A Schroder; Arthur J Moss; Seiko Ohno; Minoru Horie; Corey L Anderson; Craig T January; Brian P Delisle
Journal:  Am J Physiol Cell Physiol       Date:  2013-07-17       Impact factor: 4.249

Review 6.  Molecular pathogenesis of long QT syndrome type 2.

Authors:  Jennifer L Smith; Corey L Anderson; Don E Burgess; Claude S Elayi; Craig T January; Brian P Delisle
Journal:  J Arrhythm       Date:  2016-01-22

7.  Pharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and Thapsigargin.

Authors:  Haiyan Mao; Xiaoli Lu; Justin Michael Karush; Xiaoyan Huang; Xi Yang; Yanna Ba; Ying Wang; Ningsheng Liu; Jianqing Zhou; Jiangfang Lian
Journal:  PLoS One       Date:  2013-06-19       Impact factor: 3.240
  7 in total

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