glucose-6-phosphate dehydrogenase (g6pd) is a cytosolic enzyme which its main function is to produce nadph in the red blood cells by controlling the step from glucose-6-phosphate to 6-phospho gluconate in the pentose phosphate pathway. g6pd deficiency is the most common x-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

beta-thalassemia, by its high frequency and heterogenecity, constitues a real problem of health in iran. aboute 13 beta globin mutations encompass 70-90% of mutations spectrum in iran, the rest are rare or unknown. in this study six mutations of the codon ivsi-130(g-c), fr16 (-c), codon35 (-c), fr23/24(-g), codon8 (+g) and codon 20 (gtg-gag) were recognized and added to spectrom of beta globin ...

Cutaneous human papillomavirus (HPV) infection typically manifests with isolated warts. However, some patients in familial clustering develop extensive and protracted HPV infections, primarily the β-HPV types 5 8, distinct cutaneous findings. This clinical entity, epidermodysplasia verruciformis (EV), autosomal recessive inheritance, is characterized by numerous flat warts childhood, which prog...

Cutaneous human papillomavirus (HPV) infection typically manifests with isolated warts. However, some patients in familial clustering develop extensive and protracted HPV infections, primarily the β-HPV types 5 8, distinct cutaneous findings. This clinical entity, epidermodysplasia verruciformis (EV), autosomal recessive inheritance, is characterized by numerous flat warts childhood, which prog...

A large number of point mutations have been identified in induced pluripotent stem cell (iPSC) genomes to date. Whether these mutations are associated with iPSC generation is an important and controversial issue. In this study, we approached this critical issue in different ways, including an assessment of iPSCs versus embryonic stem cells (ESCs), and an investigation of variant allele frequenc...

We compare the known retinitis pigmentosa (RP) mutations in rhodopsin with mutational data obtained for the complement factor 5a receptor (C5aR), a member of the rhodopsin-like family of G protein-coupled receptors (GPCRs). We have performed genetic analyses that define residues that are required for C5aR folding and function. The cognate residues in rhodopsin are not preferentially mutated in ...

Cystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel all...

Italian ryegrass (Lolium multiflorum L.), a cross-pollinated grass, is gradually becoming predominant weed in wheat fields China and evolving resistance to many groups of herbicides. The aim this study determine the levels single L. population from field Henan Province China, three modes action (MoAs) herbicides further characterize potential mechanisms. This evolved multiple herbicide resistan...