scholarly journals Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness

2006 ◽  
Vol 60 (5) ◽  
pp. 597-602 ◽  
Author(s):  
Terumi Murakami ◽  
Yukiko K. Hayashi ◽  
Satoru Noguchi ◽  
Megumu Ogawa ◽  
Ikuya Nonaka ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Muscle Weakness ◽  
Gene Mutations

scholarly journals Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

2010 ◽  
Vol 3 (4) ◽  
pp. 314-322 ◽  
Author(s):  
Perry Elliott ◽  
Constantinos O'Mahony ◽  
Petros Syrris ◽  
Alison Evans ◽  
Christina Rivera Sorensen ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Protein Gene ◽  
Gene Mutations ◽  
Desmosomal Protein

scholarly journals Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults

2011 ◽  
Vol 1 (1) ◽  
pp. 4 ◽  
Author(s):  
Matthew Taylor ◽  
Dobromir Slavov ◽  
Ernesto Salcedo ◽  
Xiao Zhu ◽  
Deborah Ferguson ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Gene Mutations ◽  
Tafazzin Gene

scholarly journals Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

2004 ◽  
Vol 44 (11) ◽  
pp. 2192-2201 ◽  
Author(s):  
Takeharu Hayashi ◽  
Takuro Arimura ◽  
Manatsu Itoh-Satoh ◽  
Kazuo Ueda ◽  
Shigeru Hohda ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Dilated Cardiomyopathy ◽  
Gene Mutations

scholarly journals The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

2009 ◽  
Vol 17 (10) ◽  
pp. 1241-1249 ◽  
Author(s):  
Daniel Vega Møller ◽  
Paal Skytt Andersen ◽  
Paula Hedley ◽  
Mads Kristian Ersbøll ◽  
Henning Bundgaard ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Gene Mutations ◽  
Idiopathic Dilated Cardiomyopathy

scholarly journals Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy

1999 ◽  
Vol 36 (10) ◽  
pp. 796-797 ◽  
Author(s):  
B. M. MAYOSI ◽  
S. S. KHOGALI ◽  
B. ZHANG ◽  
H. WATKINS
Keyword(s):  
Dilated Cardiomyopathy ◽  
Gene Mutations ◽  
Actin Gene ◽  
Common Cause

Abstract 5290: Cypher Long but not Short Isoform Specific Knockout Mice Result in Cardiac Signaling Defects and Dilated Cardiomyopathy

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Hongqiang Cheng ◽  
Ming Zheng ◽  
Farah Sheikh ◽  
Kunfu Ouyang ◽  
Li Cui ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Knockout Mice ◽  
Molecular Mechanisms ◽  
Heart Function ◽  
Gene Mutations ◽  
Splice Isoforms ◽  
Functional Roles ◽  
Deficient Mice

Our previous studies have demonstrated that Cypher, a PDZ-LIM protein localized at the Z line, plays a pivotal role in heart function. We recently identified long and short splice isoforms of Cypher, which are characterized by the presence and absence of LIM domains, respectively. The LIM domain of Cypher is thought to be involved in signaling, based on its ability to directly interact with signaling proteins. In human patients with dilated cardiomyopathy (DCM) we discovered Cypher gene mutations, which affect either long or short isoform or both isoforms. However, the precise molecular mechanisms underlying the role of Cypher isoforms in DCM remain unclear. To determine the role of Cypher isoforms in cardiac signaling and disease in vivo , we generated two Cypher isoform specific knockout mice. Selective ablation of Cypher long isoforms in mice resulted in partial neonatal lethality. However, hearts from viable Cypher long isoform deficient mice displayed Z line abnormalities and decreased cardiomyocyte widths, which resulted in a progressive form of DCM, characterized by fibrosis, calcification and lethality. The effects on cardiac function and disease observed in long-isoform specific Cypher knockout mice were preceded by significant decreases in cardiac protein kinase C and extracellular signal-regulated kinase signaling. These results are in contrast to Cypher short isoform deficient mice, which were viable with no overt cardiac morphology and signaling abnormalities. These results reveal distinct functional roles for Cypher isoforms in the heart as well as shed light into the molecular mechanisms underlying dilated cardiomyopathy.

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