The remote enhancer provides transcriptional robustness during retinal ganglion cell development.

The retinal ganglion cell (RGC) competence factor ATOH7 is dynamically expressed during retinal histogenesis. transcription is controlled by a promoter-adjacent primary enhancer and a remote shadow enhancer (SE). Deletion of the human SE causes nonsyndromic congenital retinal nonattachment (NCRNA) disease, characterized by optic nerve aplasia and total blindness.

Antidiabetic Potential of Roots: In Vitro Pancreatic Beta Cell Protection, Enhancement of Glucose Consumption, and Bioassay-Guided Fractionation.

By using the streptozotocin- (STZ-) induced cytotoxicity in -TC3 cells as an assay model, a bioassay-guided fractionation study was employed to isolate and characterize the potential antidiabetic principles of roots of A combination of open column chromatography on reverse-phase silica gel using a water-ethanol gradient (10 : 90 to 100 : 0) followed by HPLC-based fractionation led to an active compound that appears to be composed of carbohydrate/sugar. When cell viability under STZ was reduced to 49.8 ± 4% (mean ± SD), treatment with the active compound at the concentration of 0.

Bioassay-guided Isolation of Neuroprotective Fatty Acids from against 1-methyl-4-phenylpyridinium-induced Neurotoxicity.

Objective: Parkinson's disease, a slowly progressive neurological disease, is associated with degeneration of the basal ganglia of the brain and a deficiency of the neurotransmitter dopamine. The main aspects of researches are the protection of normal neurons against degeneration. Fatty acids (FAs), the key structural elements of dietary lipids, are carboxylic straight chains and notable parameters in nutritional and industrial usefulness of a plant.

Protective effect of bioactive compounds from against cisplatin-induced oxidative stress and apoptosis in the PC12 cell line.

Objectives: The present study aims to evaluate the protective effect of the compounds isolated from () against oxidative stress and apoptosis induced by cisplatin (CIS) in PC12 cells.

Materials And Methods: Six compounds were isolated as quercetrin-3---D-glucopyranoside (QUE), osthol (OST), verbenone-5---D-glycopyranoside (VER), Isoimperatorin (ISO), kaempferol-3---D-glucopyranoside (KAM), and echinophorin B (ECH). For this study, we used MTT reduction assay for detection of protective effects of isolated compounds on CIS-induced cytotoxicity in PC12 cells.

Factors affecting marginal integrity of class II bulk-fill composite resin restorations.

Bulk-fill composite resins are a new type of resin-based composite resins, claimed to have the capacity to be placed in thick layers, up to 4 mm. This study was carried out to evaluate factors affecting gap formation in Cl II cavities restored using the bulk-fill technique. A total of 60 third molars were used in this study.

Ethanolic Extract of Berberis Vulgaris Fruits Inhibits the Proliferation of MCF-7 Breast Cancer Cell Line Through Induction of Apoptosis.

Background: As it is obvious, there is much documentation that shows the importance of breast cancer treatment in patients. High expressions of P53 and Bcl-2 are associated with breast cancer, which are reliable factors to follow up the breast cancer. Berberis vulgaris is used as a traditional medicine in cancer.

New polyacetylenes from Echinophora cinerea (Boiss.) Hedge et Lamond.

Echinophora cinerea aerial parts are used in folk medicine to cure gastric diseases and as a food seasoning in cheese and yogurt. Besides several pharmacological effects have been assigned to Echinophora spp., there is no phytochemical investigation on this genus other than our previous publication on flavonoids.

Radiographic evaluation of root canal fillings accomplished by undergraduate dental students.

Introduction: The purpose of this study was to evaluate the radiographic quality of root canal fillings by fourth-, fifth-, and sixth-year undergraduate students at Tabriz Faculty of Dentistry between 2006 and 2012.

Methods And Materials: A total of 1183 root canal fillings in 620 teeth were evaluated by two investigators (and in case of disagreement by a third investigator) regarding the presence or absence of under-fillings, over-fillings and perforations. For each tooth, preoperative, working and postoperative radiographs were checked.

Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.

Individuals with nonsyndromic congenital retinal nonattachment (NCRNA) are totally blind from birth. The disease afflicts ∼1% of Kurdish people living in a group of neighboring villages in North Khorasan, Iran. We found that NCRNA is caused by a 6,523-bp deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 (Math5), a bHLH transcription factor gene that is required for retinal ganglion cell (RGC) and optic nerve development.

Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

Using Guthrie Biological Inhibition Assay, 4963 mentally retarded individuals housed in 31 cities and towns across the country were screened for PKU. The average prevalence of classical PKU in the study population was 2.1%, which is higher than that reported for most mentally retarded populations in other countries prior to the implementation of a nationwide newborn screening programme for PKU.

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina. So far, 18 genes have been identified for autosomal-dominant (ad) RP. Here, we describe an adRP locus (RP42) at chromosome 7p15 through linkage analysis in a six-generation Scandinavian family and identify a disease-causing mutation, c.

Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease.

Age-related macular degeneration (AMD) is a complex multifactorial disease that affects the central region of the retina. AMD is clinically heterogeneous, leading to geographic atrophy (GA) and/or choroidal neovascularization (CNV) at advanced stages. Considerable data exists in support of a genetic predisposition for AMD.

Genetic fine mapping of the gene for nonsyndromic congenital retinal nonattachment.

Autosomal recessive nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus in otherwise normal individuals. Polymerase chain reaction-based linkage analyses of polymorphic microsatellite markers in the 10q21 region on DNA samples from 106 individuals provide evidence that the NCRNA locus is within an interval of approximately 0.6-1.

Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21.

Nonsyndromic congenital retinal nonattachment (NCRNA) comprises congenital insensitivity to light, massive retrolental mass, shallow anterior chamber, microphthalmia, and nystagmus. We searched for the location of the gene responsible for an autosomal recessive form of NCRNA by using DNA samples from 36 individuals from a founding population. To this end we applied homozygosity mapping and a DNA pooling strategy using genomewide screen polymorphic microsatellite markers.

High incidence of autosomal recessive nonsyndromal congenital retinal nonattachment (NCRNA) in an Iranian founding population.

In an isolated and founding Iranian population the prevalence of congenital total blindness is 1.1%. Clinical findings such as lack of perception of light, massive retrolental mass, shallow anterior chamber and nystagmus, in otherwise normal individuals, correspond to nonsyndromal congenital retinal nonattachment.