The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of
chronic kidney disease in the first three decades of life. It manifests histologically as focal …

Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …

Galloway–Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by
the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain …

Steroid-resistant nephrotic syndrome (SRNS) is a common cause of chronic kidney disease
in childhood and has a significant risk of rapid progression to end-stage renal disease. The …

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …

Genome-wide association studies (GWAS) have transformed understanding of susceptibility
to testicular germ cell tumors (TGCTs), but much of the heritability remains unexplained …

Common forms of atherosclerosis involve multiple genetic and environmental factors. While
human genome-wide association studies have identified numerous loci contributing to …

N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t6A) is a universal
modification essential for translational accuracy and efficiency. The t6A pathway uses two …

Back and neck pain are significant healthcare burdens that are commonly associated with
pathologies of the intervertebral disc (IVD). The poor understanding of the cellular …