Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

Literature DB >> 33794647

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

Mohammed Almannai^1,2, Shiyu Luo^3,4,5, Eissa Faqeih¹, Fuad Almutairi^6,7,8, Qifei Li^3,4,5, Pankaj B Agrawal^3,4,5.

Abstract

Entities: Chemical

Keywords: cardiomyopathy; exome; heart failure; mitral valve; sibling

Mesh：

Substances：

Year: 2021 PMID： 33794647 PMCID： PMC8058307 DOI： 10.1161/CIRCGEN.120.003310

Source DB: PubMed Journal: Circ Genom Precis Med ISSN： 2574-8300

× No keyword cloud information.

5 in total

1. SPEG Controls Calcium Reuptake Into the Sarcoplasmic Reticulum Through Regulating SERCA2a by Its Second Kinase-Domain.

Authors: Chao Quan; Min Li; Qian Du; Qiaoli Chen; Hong Wang; David Campbell; Lei Fang; Bin Xue; Carol MacKintosh; Xiang Gao; Kunfu Ouyang; Hong Yu Wang; Shuai Chen
Journal: Circ Res Date: 2019-03 Impact factor: 17.367

2. SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity.

Authors: Ann P Quick; Qiongling Wang; Leonne E Philippen; Giselle Barreto-Torres; David Y Chiang; David Beavers; Guoliang Wang; Maha Khalid; Julia O Reynolds; Hannah M Campbell; Jordan Showell; Mark D McCauley; Arjen Scholten; Xander H T Wehrens
Journal: Circ Res Date: 2016-10-11 Impact factor: 17.367

3. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Authors: Pankaj B Agrawal; Christopher R Pierson; Mugdha Joshi; Xiaoli Liu; Gianina Ravenscroft; Behzad Moghadaszadeh; Tiffany Talabere; Marissa Viola; Lindsay C Swanson; Göknur Haliloğlu; Beril Talim; Kyle S Yau; Richard J N Allcock; Nigel G Laing; Mark A Perrella; Alan H Beggs
Journal: Am J Hum Genet Date: 2014-07-31 Impact factor: 11.025

4. Novel SPEG variant cause centronuclear myopathy in China.

Authors: Jia Tang; Wei Ma; Yangran Chen; Runze Jiang; Qinlong Zeng; Jieliang Tan; Hongqing Jiang; Qing Li; Victor W Zhang; Jing Wang; Hui Tang; Liangping Luo
Journal: J Clin Lab Anal Date: 2019-10-18 Impact factor: 2.352

5. A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.

Authors: Aviva Levitas; Emad Muhammad; Yuan Zhang; Isaac Perea Gil; Ricardo Serrano; Nashielli Diaz; Maram Arafat; Alexandra A Gavidia; Michael S Kapiloff; Mark Mercola; Yoram Etzion; Ruti Parvari; Ioannis Karakikes
Journal: PLoS Genet Date: 2020-09-14 Impact factor: 5.917

5 in total

3 in total

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy.

1. SPEG Controls Calcium Reuptake Into the Sarcoplasmic Reticulum Through Regulating SERCA2a by Its Second Kinase-Domain.

2. SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity.

3. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

4. Novel SPEG variant cause centronuclear myopathy in China.

5. A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy.

1. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants.

2. Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy.

Review 3. Striated Preferentially Expressed Protein Kinase (SPEG) in Muscle Development, Function, and Disease.