COL4A3 mutations cause focal segmenta glomerulosclerosis

Focal segmental glomerulosclerosis （FSGS） is a histologically identifiable gtomerular injury often leading to proteinuria and renal failure. To identify its causal genes, whole-exome sequencing and Sanger sequencing were performed on a large Chinese cohort that comprised 40 FSGS families, 50 sporadic FSGS patients, 9 independent autosomal recessive Atport＇s syndrome （ARAS） patients, and 190 ethnically matched healthy controls. Patients with extrarenal manifestations, indicating systemic diseases or other known hereditary renal diseases, were excluded. Heterozygous COL4A3 mutations were identified in five （12.5%） FSGS families and one （2%） sporadic FSGS patient. All identified mutations disrupted highly conserved protein sequences and none of them was found in either public databases or the 190 healthy controls. Of the FSGS patients with heterozygous COL4A3 mutations, segmental thinning of the glomerular base membrane （GBM） was only detected in the patient with electronic microscopy examination results available. Five ARAS patients （55.6%） had homozygous or compound-heterozygous mutations in COL4.43 or COL4A4. Serious changes in the G BM, hearing loss, and ocular abnormalities were found in 100%, 80%, and 40% of the ARAS patients, respectively. Overall, a new sub- group of FSGS patients resulting from heterozygous C01.4A3 mutations was identified. The mutations are relatively frequent in famiUes diagnosed with inherited forms of FSGS. Thus, we suggest screening for C01.4A3 mutations in familial FSGS patients.

Ultra-stable tellurium-doped carbon quantum dots for cell protection and near-infrared photodynamic application

It is important to regulate the concentration of reactive oxygen species(ROS)in cells since they play important roles in metabolism.Thus,developing nanoreagents to control the ROS is critical.Herein,tellurium-doped carbon quantum dots(Te-CDs)were developed by a simple and efficient hydrothermal method,which can scavenge H2O2 to protect cells under ambient condition,but generateáOH under 808 nm irradiation as photodynamic application.This contribution presented a kind of novel CDs with dual-functions,which can potentially regulate ROS under different conditions.

COL4A3 mutations cause focal segmental glomerulosclerosis

In this article,there were two annotation mistakes about the precise deletion position in COL4A3 and COL4A4 mutations in ARAS patients(summarized in Figure 2E).This was caused by a bug in the old version(v3.4)of Variant Caller for Ion Torrent.The variant in family AP5 should be described as‘chr2:227942771delG’,instead of‘chr:227942770delG’,in the COL4A4 gene.The variant identified in family AP1 should be described as‘chr2:228172490delA’,instead of‘chr:228172489delA’,in the COL4A3 gene.The corrected Figure 2E is shown as below.The results and conclusions of the article are not affected,and the authors apologize for these errors.