نتایج جستجو برای: induced mutation
تعداد نتایج: 1234912 فیلتر نتایج به سال:
Tau is a microtubule-binding protein expressed in neurons and the equal ratio between 4-repeat (4R) 3-repeat (3R) isoforms are maintained normal adult brain function. Dysregulation of 3R;4R causes tauopathy human that recapitulate tau health disease will provide platform for elucidating pathogenic processes involving pathology. We carried out extensive characterizations derived by microRNA-indu...
The SCN5A gene encodes the pore-forming α-subunit of the ion channel that carries the cardiac fast sodium current (INa). The 1795insD mutation in SCN5A causes sinus bradycardia, with a mean heart rate of 70 beats/min in mutation carriers vs. 77 beats/min in non-carriers from the same family (lowest heart rate 41 vs. 47 beats/min). To unravel the underlying mechanism, we incorporated the mutatio...
heparin- induced thrombocytopenia (hit) is an antibody mediated adverse effect of heparin therapy which is classified into two subtypes, hit i which is non-immune, spontaneously reversible thrombocytopenia and; hit ii which is an autoimmune-mediated adverse effect of heparin therapy. in this case report, we described a 65-year old male patient with hit ii after coronary artery bypass grafting. ...
DNA damage due to reactive oxygen or nitrogen species is proposed to be involved in the molecular mechanism of asbestos-induced carcinogenicity. However, indications for this hypothesis came mainly from in vitro assays using cultured cells or cell-free systems. In the present study, the mutagenicity of crocidolite fibers and the underlying molecular mechanisms were investigated in vivo. Mutatio...
Abstract Background & Aims:BRAF-V600E mutation has recently been considered as a molecular marker in diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E mutation detection with other previous methods in diagnosis of HCL patients. Materials & M...
the role of blood transfusion as a cause of induced malaria is a known fact, and an increase in this condition has already observed in iran mainly due to the increase in blood transfusions. among cases in whom the onset and course of the disease were followed, it was observed that fever and other symptoms of malaria usually appear about 6 weeks alter the transfusion and appear mainly among pati...
The frequency of three mitochondrial point mutations, 1555A-->G, 3243A-->G, and 7445A-->G, known to be associated with hearing impairment, was examined using restriction fragment length polymorphism (RFLP) analysis in two Japanese groups: (1) 319 unrelated SNHL outpatients (including 21 with aminoglycoside antibiotic injection history), and (2) 140 cochlear implantation patients (including 22 w...
Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...
Improvement of ENU Mutagenesis Efficiency Using Serial Injection and Mismatch Repair Deficiency Mice
ENU mutagenesis is a powerful method for generating novel lines of mice that are informative with respect to both fundamental biological processes and human disease. Rapid developments in genomic technology have made the task of identifying causal mutations by positional cloning remarkably efficient. One limitation of this approach remains the mutation frequency achievable using standard treatm...
Several bacterial systems show behavior interpreted as evidence for stress-induced mutagenesis (adaptive mutation), a postulated process by which nongrowing cells temporarily increase their general mutation rate. Theoretical considerations suggest that periodic stress-induced general mutagenesis would not be advantageous in the long term, due to the high cost of deleterious mutations. Alternati...
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