نتایج جستجو برای: mitochondrial deletions
تعداد نتایج: 150658 فیلتر نتایج به سال:
Zeliha Kayaaltı Institute of Forensic Medicine, Ankara University, Ankara, TURKEY Phone : +90 (312) 319 27 34 Fax : +90 (312) 319 20 77 E-mail Address : [email protected] Aim: The aim of this study was to determine 4977 bp and 7436 bp mitochondrial DNA (mtDNA) deletions and to investigate whether there is an association between the mtDNA deletions and myocardial infarction (MI) in...
15 Poulton J, Morten K, Brown G, Bindoff L. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Human Molecular Genetics 1994; 3: 947-51. 16 Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nature Genet 1993; 4: 289-94. 17 Fischel-Ghodsian N, Prezant TR, Bu X, Oztas S. M...
a 9 bp deletion between cytochrome oxidase subunit ii and trna lys genes in mitochondrial dna, has proven to be an extremely informative marker for tracing population history. using the pcr-page and pcr-sscp techniques in this study, 152 dna samples collected from iranian populations were screened for the 9 bp deletion. no deletion was observed. a length polymorphism, most probably a 9 bp tripl...
Age-related hearing loss is a multi-factorial process involving genetic and environmental factors, including exposure to noise and ototoxic agents, as well as pathological processes. Among these is the accumulation of mitochondrial DNA mutations and deletions. The creation of a transgenic mouse with a loss-of-function deletion of the nuclear gene that encodes the polymerase required to repair d...
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. He...
The oocyte requires a vast supply of energy after fertilization to support critical events such as spindle formation, chromatid separation, and cell division. Until blastocyst implantation, the developing zygote is dependent on the existing pool of mitochondria. That pool size within each cell decreases with each cell division. Mitochondria obtained from oocytes of women of advanced reproductiv...
The unusual structures of the hot-regions flanking large-scale deletions in human mitochondrial DNA.
Large-scale deletions of mitochondrial DNA (mtDNA) are common events that have been found to occur in human ageing and in patients with mitochondrial myopathies. The mechanisms by which these deletions occur remain unclear, but several mechanisms have been proposed, such as slipped-mispairing, illegitimate recombination, and oxidative reactions elicited by free radicals. In addition, the DNA to...
Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions. After excluding known causes, whole exome sequencing, targeted Sanger...
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