how to cite this article: ghofrani m. lysosomal storage disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):1-2.   for reading more pls see pdf

conclusions in the present study, we identified a key gene rps16 and a significant module involved in ribosome biogenesis in eukaryotes that were related to neonatal sepsis, which might be potential biomarkers for early detection and therapy for neonatal sepsis. background the exact interacting factor that response to the infection for neonatal sepsis is still needed to urgently to be disclosed...

background: angiogenesis is an important process in various physiologic and pathologic states. the most significant stimulator of angiogenesis is vascular endothelial growth factor (vegf). in contrast, vasohibin1 acts as an angiogenesis inhibitor which specifically inhibits new vessels formation. the aim of the present study was cloning and expression of vasohibin1 gene in e. coli as well as pu...

objective polyethylenimine (pei), a readily available synthetic polycation which has high transfection efficiency owing to its buffering capacity was introduced for transfection a few years ago. but it has been reported that pei is cytotoxic in many cell lines. in this study, in order to enhance the transfection efficiency of 10 kda pei and reduce its toxicity, hydrophobic residues were grafted...

background: trichomonas vaginalis is the agent of urogenital tract infection that causes human trichomoniasis with some serious health complications. more understanding about genetic features of the parasite can be helpful in the study of the pathogenesis, drug susceptibility and epidemiology of the infection. for this end,we conducted analysis of the actin gene of t. vaginalis by applying the ...

alterations in the expression of micrornas (mirnas) have been proposed to play a role in the pathogenesis of acute lymphoblastic leukemia (all) and chronic lymphocytic leukemia (cll). dicer is one of the main regulators of mirna biogenesis, and deregulation of its expression has been indicated as a possible cause of mirna alterations observed in various cancers. our aim was to analyze the expre...

the present study was aimed to isolate and characterize the lipolytic enzyme producing bacteria from soil samples of regions around zayande-rood river of isfahan, iran. soil samples were collected from 15 cm depth of soil surface. based on morphology, distinct colonies were isolated and purified through streak culture on to standard agar plates. isolated colonies were examined for lipase activi...

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: oculocutaneous albinism type1 (oca1) is characterized by the absence of melanin pigmentation. the muta­tion on tyr gene makes oca1 as an autosomal recessive genetic disorder. in this study, we delineated the genetic analysis of an iranian family with four members affected with oca1.  methods: clinical exams and paraclinical test were performed for all patients of the case family, al...