zebra fish were exposed to environmentally relevant concentration of pesticides and metals fora period of 14 days. the individual and the combined toxicity of pesticides and metals were studied. damage caused to the dna and induction of mutation in the gadd45β gene was investigated in this study. the present investigation revealed that exposure of zebra fish to pesticides and metals induced dna...

the aim of this study was to investigate the frequency, location and type of rpob gene mutations in mycobacterium tuberculosis (mtb) collected from patients in the southern endemic region of iran. drug susceptibility testing was determined by using the bactec system and the center for diseases control’s (cdc) standard conventional proportional method. in 29 rifampicin-resistant mtb (85%) isolat...

conclusions detection and surveillance of the significant sites of mutations in hbv is crucial for clinicians to decide on the choice of antiviral treatment and further management of hepatitis b carriers. objectives this study was carried out to detect mutations in p gene of hepatitis b virus isolated from malaysian hbv carriers. materials and methods a total of 58 sera samples were analyzed by...

objective(s) p53 is an important tumor suppressor, which is mutated in later stages of many cancers and leads to resistance to chemotherapy. the aim of this study was to reveal mutations of tp53 in colorectal cancer in kerman province. materials and methods a total of forty-three colon cancer specimens as paraffin block or fresh tissues, which passed stage iiia, were selected. three exons 5, 7 ...

how to cite this article: heidari mm, khatami m, houshmand m, mahmoudi e, nafissi sh .increased prevalence 12308 a > g mutation in mitochondrialtrnaleu (cun) gene associated with earlier age of onset in friedreich ataxia. iranian journal of child neurology 2011;5(4):25-31. objective friedreich ataxia (frda) is an inherited recessive disorder. mitochondrial dna is a candidate modifying factor fo...

farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). characteristics are early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement in affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. thre...

how to cite this article: tavasoli ar, rostami p, ashrafi mr, karimzadeh p. neurological and vascular manifestations of ethylmalonic encephalopathy. iran j child neurol. spring 2017; 11(2):57-60.   abstract objective ethylmalonic encephalopathy (ee) is a severe mitochondrial disease of early infancy clinically characterized by a combination of developmental delay, progressive pyramidal signs, a...

abstract background: many disease susceptibility genes are large and consist of many exons in which point mutations are scattered throughout. scanning each exon individually represents a tedious task which can be time consuming and expensive. there has been increasing demand for rapid and accurate methods for full scanning of unknown point mutations in large multi-exon genes. gene assembling is...

ataxia oculomotor apraxia1(aoa1) is the most frequent cause of autosomal-recessive cerebellar ataxia in japan,but it is reported from all of the world. the presentation is nearly identical to that of at without the non-neurological features,and accounts for up to 10% of autosomal-recessive cerebellar ataxias.gait imbalance and dysarthria are typical presenting features,oculomotor apraxia typica...