PURPOSE To analyze the paired box gene 6 (PAX6) in Korean patients with congenital aniridia. METHODS Genomic DNA was isolated from peripheral blood leukocytes of 22 aniridia patients in 18 unrelated families. Polymerase chain reaction was performed for all 14 exons of PAX6 followed by bidirectional sequencing. RESULTS Fourteen different kinds of mutations were detected in 16 of 18 unrelated...

in this article the possible effects of the translation technologies on the critical thinking and translation ability of the students of the translation studies would be studied through a pre-experimental method of research. the participants of this research were thirty one iranian senior translation studies students at the age group of 20-26 who were selected based on their age, educational le...

H-Ras oncogene requires deregulation of additional oncogenes or inactivation of tumor suppressor proteins to increase cell proliferation rate and transform cells. In fact, the expression of the constitutively activated H-RasV12 induces cell growth arrest and premature senescence, which act like barriers in pre-neoplastic lesions. In our experimental model, human fibroblasts transfected with H-R...

The exchange of ribosomal subunits during the release of growing polypeptide chains by puromycin has been investigated in a bacterial cell-free system engaged in protein synthesis. The addition of spermidine, used as a stabilizing agent of 70S monomers, caused a strong inhibition of the subunit exchange. This result led us to conclude that upon premature release of unfinished protein chains by ...

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease characterized by dilatation and akinesis of the right ventricle, and causes life-threatening ventricular arrhythmia. Mutations of plakophilin-2 (PKP2) have recently been identified as one causative abnormality in ARVC. A case of ARVC with a mutation of PKP2 is reported here. Direct sequencing of the patient's DNA revealed an in...

The FAE1 genes isolated from Zhongshuang 9 both harbored a deletion of 4 nucleotides between T1366 and G1369, leading to a frameshift mutation and the premature stop of translation after 466 amino acid residues. This was evidenced and supported by heterologous expression of FAE1 genes in yeast and immunoblot analysis. A RT-PCR and Western blot experiments with the developing seeds of Zhongshuan...

Replication of rolling circle plasmid pKYM was regulated by RepK, a plasmid-encoded initiator protein, with HU protein and antisense RNA (copRNA) that block the expression of RepK. HU protein bound to the repK promoter in the presence of RepK protein and inhibited the transcription of repK mRNA. The copRNA would hybridize to repK mRNA and induce a stem-loop structure in which the repK Shine-Dal...

Premature ribosome drop-off is one of the major errors in translation of mRNA by ribosomes. However, repeated analyses of Ribo-seq data failed to quantify its strength inE. coli Relying on a novel highly sensitive data analysis method we show that a significant rate of ribosome drop-off is measurable and can be quantified also when cells are cultured under non-stressing conditions. Moreover, we...

We report on two adolescent sisters with Sanfilippo syndrome type D with some clinical features different from other cases previously described. They are the oldest cases reported to date and provide new clues about the course of the disease. Enzymatic and immunological characterisation of the patients' fibroblasts indicated deficiency of N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sul...