chronic granulomatous disease (cgd), a rare inherited primary immunodeficiency disorder,  is  caused  by  mutation  in  any  one  of  the  genes  encoding  components   of nicotinamide adenine dinucleotide phosphate (nadph)-oxidase enzyme. ncf2 gene (encoding p67-phox component) is one of them and its mutation is less common to cause cgd (around 5-6%). here, we assessed mutation analysis of ncf...

Background Globozoospermia is a rare but severe teratozoospermia disorder which causes male infertility. Total globozoospermia is diagnosed by the presence of 100% roundheaded spermatozoa lacking an acrosome in semen analysis. Recent studies have shown that in large majority of globozoospermic patients, deletion of a 200 kb segment including the DPY19L2 gene occurs. Among all the genes in this ...

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

Having your work published in a good journal is the life-blood of research. Publications are the key element in scientific communication and influence future funding and cancer development for the authors. Every year more and more manuscripts are submitted and competition for acceptance is fierce. The editors of EJC recently held a workshop to discuss ways to improve manuscript writing, and thi...

The present study was carried out to investigate the association of C/T single nucleotide polymorphism(SNP)in exon 5 of stearoyl-CoA desaturase 1 (SCD1) gene and A/C SNP in the 3' untranslated region of oxidized low density lipoprotein receptor 1 (OLR1)gene with milk production traits in Iranian Holstein dairy Cattle. The blood samples of 153 (for OLR1) and 308 (for SCD1) dairy cattle from thre...

Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...

The exon junction complex (EJC) connects spliced mRNAs to posttranscriptional processes including RNA localization, transport, and regulated degradation. Here, we provide a comprehensive analysis of bona fide EJC binding sites across the transcriptome including all four RNA binding EJC components eIF4A3, BTZ, UPF3B, and RNPS1. Integration of these data sets permits definition of high-confidence...