نتایج جستجو برای: nd4l gene mutation
تعداد نتایج: 1284724 فیلتر نتایج به سال:
objective(s) the mitochondrial defects in friedreich's ataxia have been reported in many researches. mitochondrial dna is one of the candidates for defects in mitochondrion, and complex i is the first and one of the largest catalytic complexes of oxidative phosphorylation (oxphos) system. materials and methods we searched the mitochondrial nd4l gene for mutations by ttge and sequencing on ...
Background: Varicocele is the abnormal tortuosity and dilatation of the veins of the pampiniform plexus within the spermatic cord. Varicocele-related pathology is suspected in infertility as it leads to elevated temperatures in the scrotum and testes, which has a deleterious effect on spermatogenesis. In Varicocele patients, ROS production is enhanced and total antioxidant capacity (TAC) is red...
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited a...
Background: Mutation in NPM1 gene has been reported to be the most common genetic mutation in de novo acute myeloid leukemia (AML). AML with NPM1 gene mutation usually presents with higher initial leukocyte and blast cell counts and negative CD34 expression. We aimed to investigate the difference of initial leukocyte counts, bone marrow blast cell counts and expression of CD34 among patients wi...
Mitochondrial genome replication is asymmetric. Replication starts from the origin of heavy (H)-strand replication, displacing the parental H-strand as it proceeds along the molecule. The H-strand remains single stranded until light (L)-strand replication is initiated from a second origin of replication. It has been suggested that single-stranded H-strand DNA is more sensitive to mutational dam...
background: trichomonas vaginalis causes trichomoniasis and metronidazole is its chosen drug for treatment. ferredoxin has role in electron transport and carbohydrate metabolism and the conversion of an inactive form of metronidazole (co) to its active form (cpr). ferredoxin gene mutations reduce gene expression and increase its resistance to metronidazole. in this study, the frequency of ferre...
background: heterogeneous mutations in the human coagulation factor ix gene lead to an x-linked recessive bleeding disorder known as hemophilia b. the disease is distributed worldwide with no ethnic or geographical priority. materials and methods: the aim of this study was to characterize the factor ix gene mutations in 28 unrelated iranian hemophilia b patients. polymerase chain reaction (pcr)...
severe congenital neutropenia (scn) is a rare primary immunodeficiency disease. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr and g6pc3. the aim of this study was to find different gene mutations responsible for scn in iranian patients. twenty-seven patients with scn referred to immunology, asthma and allergy r...
objective: identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. methods: najdi cattle is the most prominent breeds in khuzestan province. to do this plan in shoushtar najdi cattle station, blood samples were taken from 15 najdi cattles. dna was extracted from wh...
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