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1
PRKAG2 Cardiomyopathy.PRKAG2心肌病
Arq Bras Cardiol. 2022 Nov;119(5):689-690. doi: 10.36660/abc.20220694.
2
Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.α2亚基相关的AMPK活性增加与PRKAG2心肌病。
Circulation. 2005 Nov 15;112(20):3140-8. doi: 10.1161/CIRCULATIONAHA.105.550806. Epub 2005 Nov 7.
3
PRKAG2 Glycogen Storage Disease Cardiomyopathy: Out of the Darkness and Into the Light.PRKAG2糖原贮积病性心肌病:走出黑暗,重见光明。
J Am Coll Cardiol. 2020 Jul 14;76(2):198-200. doi: 10.1016/j.jacc.2020.05.054.
4
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.致命性先天性心脏糖原贮积病由AMP活化蛋白激酶(PRKAG2)γ2亚基的复发性激活R531Q突变引起,而非磷酸化酶激酶缺乏所致。
Am J Hum Genet. 2005 Jun;76(6):1034-49. doi: 10.1086/430840. Epub 2005 May 2.
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Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.鉴定导致 PRKAG2 心肌病的错义变异的致病效应。
Arch Biochem Biophys. 2022 Sep 30;727:109340. doi: 10.1016/j.abb.2022.109340. Epub 2022 Jul 1.
6
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.PRKAG2 非 CBS 结构域变异与 CBS 结构域变异在心律失常和心肌病中争议性的分子功能:病例报告和文献复习。
Mol Genet Genomic Med. 2022 Jul;10(7):e1962. doi: 10.1002/mgg3.1962. Epub 2022 May 19.
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Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.过表达突变型PRKAG2的转基因小鼠确定了糖原贮积性心肌病中预激综合征的病因。
Circulation. 2003 Jun 10;107(22):2850-6. doi: 10.1161/01.CIR.0000075270.13497.2B. Epub 2003 Jun 2.
8
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.南亚 PRKAG2 心肌病患者的表型表达和临床结局。
Sci Rep. 2020 Nov 26;10(1):20610. doi: 10.1038/s41598-020-77124-9.
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Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.左心室致密化不全心肌病伴 PRKAG2 突变。
BMC Med Genomics. 2022 Oct 11;15(1):214. doi: 10.1186/s12920-022-01361-2.
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Biallelic Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.双等位基因截短变异与严重新生儿心肌病相关。
Circ Genom Precis Med. 2023 Jun;16(3):277-279. doi: 10.1161/CIRCGEN.122.003881. Epub 2023 Apr 4.

本文引用的文献

1
Atrial Flutter in PRKAG2 Syndrome: Clinical and Electrophysiological Characteristics.PRKAG2综合征中的心房扑动:临床及电生理特征
Arq Bras Cardiol. 2022 Sep 12;119(5):681-8. doi: 10.36660/abc.20210792.
2
Miniseries 1-Part IV: How frequent are fasciculo-ventricular connections in the normal heart?迷你系列第一部第四部分:正常心脏中束室连接的频率有多高?
Europace. 2022 Mar 2;24(3):464-472. doi: 10.1093/europace/euab286.
3
Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques.糖原贮积症心肌病(PRKAG2):标准和先进超声心动图技术的诊断结果。
Eur Heart J Cardiovasc Imaging. 2021 Jun 22;22(7):800-807. doi: 10.1093/ehjci/jeaa176.
4
Sudden death associated with a novel H401Q PRKAG2 mutation.
Europace. 2020 Aug 1;22(8):1278. doi: 10.1093/europace/euaa014.
5
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.肥厚型心肌病 NHLBI 登记处的不同亚组。
J Am Coll Cardiol. 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057.
6
Generation of patient-specific induced pluripotent stem cell lines from one patient with Jervell and Lange-Nielsen syndrome, one with type 1 long QT syndrome and two healthy relatives.从一名患有杰韦尔和朗格-尼尔森综合征的患者、一名患有1型长QT综合征的患者以及两名健康亲属身上生成患者特异性诱导多能干细胞系。
Stem Cell Res. 2018 Aug;31:174-180. doi: 10.1016/j.scr.2018.07.016. Epub 2018 Jul 25.
7
Human γ2-AMPK Mutations.人类γ2-AMPK突变
Methods Mol Biol. 2018;1732:581-619. doi: 10.1007/978-1-4939-7598-3_37.
8
Mammalian γ2 AMPK regulates intrinsic heart rate.哺乳动物 γ2 AMPK 调节心脏固有心率。
Nat Commun. 2017 Nov 2;8(1):1258. doi: 10.1038/s41467-017-01342-5.
9
Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.巴西一家患有心室肥厚的预激综合征
Am J Case Rep. 2017 Jul 10;18:766-776. doi: 10.12659/ajcr.904613.
10
Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.PRKAG2心肌病诱导多能干细胞和微组织模型的综合分析确定AMPK为代谢、存活和纤维化的调节因子。
Cell Rep. 2016 Dec 20;17(12):3292-3304. doi: 10.1016/j.celrep.2016.11.066.

PRKAG2 Cardiomyopathy.

作者信息

Sternick Eduardo Back

机构信息

Hospital Biocor, Rede D'Or São Luís, Nova Lima, MG - Brasil.

Hospital Governador Israel Pinheiro (IPSEMG), Belo Horizonte, MG - Brasil.

出版信息

Arq Bras Cardiol. 2022 Nov;119(5):689-690. doi: 10.36660/abc.20220694.

DOI:10.36660/abc.20220694
PMID:36453759
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9750224/
Abstract
摘要