Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Jia-Huan Ding"'
Publikováno v:
International Journal of Molecular Medicine
Hypertrophic cardiomyopathy (HCM), one of the most common forms of myocardial diseases, is the major cause of sudden cardiac death in young adults and competitive athletes. Analyses of gene mutations associated with HCM are valuable for its molecular
Autor:
Yue Feng, Xueshan Xia, Jia-Huan Ding, Mingjie Pang, Yue Zhao, Hong Cao, Yun-Mei Zhang, Yindi Song, Xiao-Xue Ding, Hong Zhang
Publikováno v:
International Journal of Molecular Medicine
Inherited cardiomyopathy is the major cause of sudden cardiac death (SCD) and heart failure (HF). The disease is associated with extensive genetic heterogeneity; pathogenic mutations in cardiac sarcomere protein genes, cytoskeletal protein genes and
Autor:
Yue Zhao, Hong Zhang, Xiao-Xue Ding, Li Liu, Yuzhu Song, Yun-Mei Zhang, Yue Feng, Xueshan Xia, A-Mei Zhang, Jia-Huan Ding
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2015 (2015)
BioMed Research International, Vol 2015 (2015)
As a common cardiac disease mainly caused by gene mutations in sarcomeric cytoskeletal, calcium-handling, nuclear envelope, desmosomal, and transcription factor genes, inherited cardiomyopathy is becoming one of the major etiological factors of sudde
Autor:
Ralph V. Shohet, Hans E. Hohmeier, Shuyuan Chen, Raffi Bekeredjian, Bing Zhi Yang, Paul A. Grayburn, Stephen Albert Johnston, Jia Huan Ding, Christopher B. Newgard
Publikováno v:
Proceedings of the National Academy of Sciences. 103:8469-8474
This study describes a method of gene delivery to pancreatic islets of adult, living animals by ultrasound targeted microbubble destruction (UTMD). The technique involves incorporation of plasmids into the phospholipid shell of gas-filled microbubble
Publikováno v:
Genomics. 82:660-668
Bidirectional promoters are widely known among lower organisms but rare in mammals. A shared promoter between the two human genes encoding very long chain acyl-CoA dehydrogenase (VLCAD) and postsynaptic density protein 95 (PSD-95) is an ideal model t
Autor:
Theresa A. Grebe, Bing-Zhi Yang, Charles R. Roe, Guocheng He, Diane S. Roe, Kirk Aleck, Roy Teramoto, Jia-Huan Ding
Publikováno v:
Biochemical and Biophysical Research Communications. 264:483-487
Very long chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial step of long chain fatty acid oxidation in the mitochondria. Patients with VLCAD deficiency have recently been observed with two clinical phenotypes. The cardiac form presents with
Autor:
Bing-Zhi Yang, Jia-Huan Ding, Tracy Dewese, Diane Roe, Guocheng He, Jeff Wilkinson, Donald W. Day, France Demaugre, Daniel Rabier, Michele Brivet, Charles Roe
Publikováno v:
Molecular Genetics and Metabolism. 64:229-236
Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three p
Publikováno v:
Molecular Genetics and Metabolism. 63:110-115
Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of mitochondrial fatty-acid oxidation which presents as three distinct phenotypes (neonatal, infantile, and adult onset). CPT II exons from an adult-onset CPT II
Publikováno v:
Biochemical and Molecular Medicine. 58:46-51
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, an autosomal recessive disorder of fatty-acid oxidation, is clinically characterized by skeletal myopathy, Reye-like syndrome, or sudden unexplained infant death. A common mutation, G1528
Autor:
Christine Vianey-Saban, Mohamed A. Nada, Charles R. Roe, Monique Mathieu, Rebecca S. Wappner, Julie A. Mcglynn, Jia-Huan Ding, Martin G. Bialer, Ginette Mandon
Publikováno v:
Prenatal Diagnosis. 16:117-124
Amniocytes isolated from two pregnancies at risk for fatty acid oxidation defects were incubated with stable isotopically labelled palmitate, in the presence of L-carnitine, to probe that pathway. The labelled acylcarnitines were then quantitated usi