Citation: | Junjie SHU, Hongyu CHEN, Kai LIU, Puping LEI. Application of Whole-cell Patch Clamp Techniques in Inherited Long QT Syndrome and Sudden Unexplained Death[J]. Journal of Kunming Medical University, 2022, 43(6): 154-158. doi: 10.12259/j.issn.2095-610X.S20220629 |
[1] |
Behere S P,Weindling S N. Inherited arrhythmias:The cardiac channelopathies[J]. Ann Pediatr Cardiol,2015,8(3):221-220. doi: 10.4103/0974-2069.164692
|
[2] |
Ackerman M J,Priori S G. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European heart rhythm association (EHRA)[J]. Heart Rhythm,2011,8(8):1308-1039. doi: 10.1016/j.hrthm.2011.05.020
|
[3] |
Baskar S,Aziz P F. Genotype-phenotype correlation in long QT syndrome[J]. Glob Cardiol Sci Pract,2015,2015(2):26. doi: 10.5339/gcsp.2015.26
|
[4] |
Schwartz P J,Ackerman M J. The long QT syndrome:A transatlantic clinical approach to diagnosis and therapy[J]. Eur Heart J,2013,34(40):3109-3116. doi: 10.1093/eurheartj/eht089
|
[5] |
李翠兰,王震. 长QT综合征发病机制研究新进展[J]. 心血管病学进展,2014,35(6):625-629. doi: 10.3969/j.issn.1004-3934.2014.06.001
|
[6] |
Magi S,Lariccia V,Maiolino M,et al. Sudden cardiac death:focus on the genetics of channelopathies and cardiomyopathies[J]. J Biomed Sci,2017,24(1):56. doi: 10.1186/s12929-017-0364-6
|
[7] |
Ackerman M J,Tester D J,Porter C J,et al. Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning[J]. N Engl J Med,1999,341(15):1121-1125. doi: 10.1056/NEJM199910073411504
|
[8] |
Liu C,Zhao Q,Su T,et al. Postmortem molecular analysis of KCNQ1,KCNH2,KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population[J]. Forensic Sci Int,2013,231(1-3):82-87. doi: 10.1016/j.forsciint.2013.04.020
|
[9] |
Jia P L,Wang Y B,Fu H,et al. Postmortem analysis of 4 mutation hotspots of KCNQ1,KCNH2,and SCN5A genes in sudden unexplained death in southwest of China[J]. Am J Forensic Med Pathol,2018,39(3):218-222. doi: 10.1097/PAF.0000000000000411
|
[10] |
Choi Y,Sims G E,Murphy S,et al. Predicting the functional effect of amino acid substitutions and indels[J]. PLoS One,2012,7(10):46688. doi: 10.1371/journal.pone.0046688
|
[11] |
Ng P C,Henikoff S. Predicting deleterious amino acid substitutions[J]. Genome Res,2001,11(5):863-874. doi: 10.1101/gr.176601
|
[12] |
Neher E, Sakmann B.Single-chanel currents recorded from membrane of denervated frog muscle-fibers [J]. Nature, 1976, 260(5554): 799-802.
|
[13] |
Peters C H,Watkins A R,Poirier O L,et al. E1784K,the most common brugada syndrome and long-QT syndrome type 3 mutant,disrupts sodium channel inactivation through two separate mechanisms[J]. J Gen Physiol,2020,152(9):202012595. doi: 10.1085/jgp.202012595
|
[14] |
Nakajima T,Dharmawan T,Kawabata-Iwakawa R,et al. Biophysical defects of an SCN5A V1667I mutation associated with epinephrine-induced marked QT prolongation[J]. J Cardiovasc Electrophysiol,2020,31(8):2107-2115. doi: 10.1111/jce.14575
|
[15] |
贾炜姣,代广斌,耿国帅,等. 膜片钳技术在细胞电生理研究方面的最新应用[J]. 高校化学工程学报,2018,32(4):767-778. doi: 10.3969/j.issn.1003-9015.2018.04.004
|
[16] |
Zhou X,Bueno-Orovio A,Schilling R J,et al. Investigating the complex arrhythmic phenotype caused by the gain-of-function mutation KCNQ1-G229D[J]. Front Physiol,2019,10:259.
|
[17] |
Furushima H,Chinushi M,Sato A,et al. Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT sy ndrome with KCNQ1 mutation[J]. J Cardiovasc Electrophysiol,2010,21(10):1170-1173. doi: 10.1111/j.1540-8167.2010.01758.x
|
[18] |
冯莉,马克娟,李新. 快速激活延迟整流钾离子通道a亚基F129I突变致长QT综合征机制研究[J]. 心肺血管病杂志,2020,39(7):781-785.
|
[19] |
Daniel L L,Yang T,Kroncke B,et al. SCN5A variant R222Q generated abnormal changes in cardiac sodium current and action potentials in mur ine myocytes and Purkinje cells[J]. Heart Rhythm,2019,16(11):1676-1685. doi: 10.1016/j.hrthm.2019.05.017
|
[1] | Limei HE, Xuemin FENG, Linjun LI, Ying CHEN, Zexing YANG. Changes of Sex Hormone Levels in Infertile Population with Polycystic Ovary Syndrome after the Assisted Reproductive Technology Treatment. Journal of Kunming Medical University, 2024, 45(1): 73-77. doi: 10.12259/j.issn.2095-610X.S20240106 |
[2] | Fen LI, Jie ZHAO, Haixi ZHANG, Lin ZHANG, Xuezhong GU. The Correlation of Iron Metabolism Indexes,Cytokines,and Liver Function in Patients with Hemophagocytic Syndrome. Journal of Kunming Medical University, 2024, 45(11): 110-116. doi: 10.12259/j.issn.2095-610X.S20241115 |
[3] | Zhibiao CHEN, Qiuxiang HUANG, Lihua MAO, Guoyong CHEN, Yun LIU, Zhihong WANG. Application of Pre-implantation Genetic Testing in the Patients with Turner Syndrome. Journal of Kunming Medical University, 2023, 44(12): 100-105. doi: 10.12259/j.issn.2095-610X.S20231216 |
[4] | Huimin LI, Gang CHEN, Tiehan LI, Xiaojie FENG, Weikun LI, Yanwei QI, Chunyun LIU, Li LIU. Determination of 29 Trace Elements in 32 Cases of Liver Biopsy with Unexplained Liver Injury. Journal of Kunming Medical University, 2022, 43(4): 125-131. doi: 10.12259/j.issn.2095-610X.S20220419 |
[5] | Yegang HU, Wei ZHANG. Role of Hereditary T Lymphocyte Immune Deficiency in Pulmonary Fibrosis Induced by Paraquat. Journal of Kunming Medical University, 2022, 43(4): 6-11. doi: 10.12259/j.issn.2095-610X.S20220402 |
[6] | Jin-yun CAI, Juan WANG, Rui-xi SUN, Ping FU. Clinical Features of Rhupus Syndrome. Journal of Kunming Medical University, 2021, 42(2): 64-69. doi: 10.12259/j.issn.2095-610X.S20210201 |
[7] | He Yun , Li Wen Hong , Chen Hao , Yuan Yang , Li Hui , Luo Jie , Wang Xiao Dan . . Journal of Kunming Medical University, 2019, 40(05): 59-62. |
[8] | Sun Chun Yi , Xu Chang Jun , Huang Ya Juan , Qing Qing , Li Dai Zhu , Liu Yang . . Journal of Kunming Medical University, 2019, 40(02): 49-53. |
[9] | Yuan Hai Feng , Su Xue Wen , Li Tian Chang . Correlative Analysis of the Onset Age of Acute Coronary Syndrome with Previous Diseases. Journal of Kunming Medical University, 2017, 38(06): 32-35. |
[10] | Zhang Le , Tang Li Bin , Jiang Jian Jie , Xia Jia Wei , Lv Zheng Xuan , Li Yun Zhen , Han Liu Xin , Bai Bin . 非生物型人工肝技术治疗肝衰竭合并肝肾综合征. Journal of Kunming Medical University, 2017, 38(06): 36-39. |
[11] | Zhang Ai Ling . Conventional Segmentation and Large Fractionated Three-dimensional Conformal Radiotherapy in the Treatment of Non Small Cell Lung Cancer with Superior Vena Cava Syndrome. Journal of Kunming Medical University, |
[12] | Ke Ting Yu . . Journal of Kunming Medical University, |
[13] | Liang Zhi Ming . . Journal of Kunming Medical University, |
[14] | Shi Hong Qiong . . Journal of Kunming Medical University, |
[15] | Li Xiao Ting . . Journal of Kunming Medical University, |
[16] | Liang Yong Xue . . Journal of Kunming Medical University, |
[17] | Qiu Hong Mei . . Journal of Kunming Medical University, |
[18] | . . Journal of Kunming Medical University, |
[19] | Lin Cui Yun . . Journal of Kunming Medical University, |
[20] | Lei Pu Ping . . Journal of Kunming Medical University, |