The canine sarcoglycan delta gene: BAC clone contig assembly, chromosome assignment and interrogation as a candidate gene for dilated cardiomyopathy in Dobermann dogs

2005 ◽  
Vol 111 (2) ◽  
pp. 140-146 ◽  
Author(s):  
P. Stabej ◽  
P.A.J. Leegwater ◽  
S. Imholz ◽  
S.A. Versteeg ◽  
C. Zijlstra ◽  
...  
2009 ◽  
Vol 52 (2) ◽  
pp. 113-123
Author(s):  
M. Owczarek-Lipska ◽  
G. Dolf ◽  
K. E. Guziewicz ◽  
T. Leeb ◽  
C. Schelling ◽  
...  

Abstract. The cardiac troponin complex, which is an important component of the contractile apparatus, is composed of the three subunits troponin I (TnI), troponin C (TnC) and troponin T (TnT). Troponin I is the inhibitory subunit and consists of three isoforms encoded by TNNI1, TNNI2 and TNNI3 genes, respectively. Due to the different types of cardiomyopathies caused by mutations in the TNNI3 gene and its fluorescence in situ hybridization (FISH) mapping on bovine chromosome 18q26, which was shown to be linked to the recessively inherited bovine dilated cardiomyopathy (BDCMP), bovine TNNI3 was considered as candidate gene for BDCMP. Real-time polymerase chain reaction (PCR) TNNI3 expression analysis resulted in a significant difference between BDCMP affected and unaffected animals when normalized to ACTB gene expression, but there was no significant difference in expression when normalized to GAPDH. Northen blotting experiment was in agreement with the expression analysis and did not reveal a significant difference between the group of BDCMP affected and unaffected animals. Sequencing of the bovine TNNI3 gene revealed a single nucleotide polymorphism in intron 6 (c.378+315G>A), but this single nucleotide polymorphism (SNP)was present regardless of the BDCMP status. In summary our data provide evidence to exclude the bovine TNNI3 gene as a candidate for BDCMP.


2004 ◽  
Vol 40 (1) ◽  
pp. 66-71 ◽  
Author(s):  
Anna Lapuk ◽  
Stanislav Volik ◽  
Robert Vincent ◽  
Koei Chin ◽  
Wen-Lin Kuo ◽  
...  

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
Marika Hirtle-Lewis ◽  
Katia Desbiens ◽  
Isabelle Ruel ◽  
Nicholas Rudzicz ◽  
Jacques Genest ◽  
...  

2006 ◽  
Vol 85 (12) ◽  
pp. 2216-2221 ◽  
Author(s):  
K.-C. Lin ◽  
K. Gyenai ◽  
R.L. Pyle ◽  
T. Geng ◽  
J. Xu ◽  
...  

Gene ◽  
2004 ◽  
Vol 340 (2) ◽  
pp. 241-249 ◽  
Author(s):  
Polona Stabej ◽  
Sandra Imholz ◽  
Serge A. Versteeg ◽  
Carla Zijlstra ◽  
Arnold A. Stokhof ◽  
...  

Author(s):  
Xia Mingyu ◽  
Ma Wengshu ◽  
Wu Xiangh ◽  
Chen Dong

This paper describes morphological and cytochemistry changes of endomyocardial biopsy in 94 patients. The samples of myoicardium were taken from 32 patients with dilated cardiomyopathy, and sdudied with light and electron microscop. The cytochemical studies in some of these patients were performed at histological and ultrastructure level. This paper also reported the result of myocardial biopsy in 33 patients with serious dysrythmia.The result of this controlled study indicates that morphological assessment in both cardiomyopathy and congenital or rheumatic heart diseases showed no special changes. In patients of dilated cardiomyopathy, the decreased activity of myosin ATPase was secondary to cardial failure. The change of succinate dehydrogenase (SDHase) was not significant with light microscopy. But ultrastructural localization of SDHase activity is valuable. Its activity was found to be localized in endomembrane and ridge of the mitochondria, the activity of this enzyme was decrease, normal, or increase. SDHase activity was more intense in cardial myocytes well-functioning, or ultrastructurally well preserved hearts.


2001 ◽  
Vol 120 (5) ◽  
pp. A468-A468 ◽  
Author(s):  
G GALLAGHER ◽  
P CHONG ◽  
J ESKDALE ◽  
A COOK ◽  
S CAIMS ◽  
...  

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