Several genes have been implicated in genetic forms of nephrotic syndrome occurring in
children. It is now known that the phenotypes associated with mutations in these genes …

Focal and segmental glomerulosclerosis (FSGS) is an important cause of steroid-resistant
nephrotic syndrome in adults and children. It is responsible for 5–20% of all cases of end …

Galloway-Mowat syndrome is a rare autosomal-recessive condition characterized by
nephrotic syndrome associated with microcephaly and neurological impairment. Through a …

Background There are many single-gene causes of steroid-resistant nephrotic syndrome
(SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is …

Background Congenital nephrotic syndrome (CNS), defined as heavy proteinuria,
hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may …

Background Mutations in the PLCE1 gene encoding phospholipase C epsilon 1 (PLCɛ1)
have been recently described in patients with early onset nephrotic syndrome (NS) and …

Congenital nephrotic syndrome (CNS) is a heterogeneous group of disorders presenting
with massive proteinuria within the first 3 months of life almost inevitably leading to end …

Nephrotic syndrome is caused by increased permeability of the glomerular filtration barrier
for macromolecules. The identification of mutations of various podocyte-expressed proteins …

Nephrotic syndrome (NS) is a common pediatric kidney disease and is defined as massive
proteinuria, hypoalbuminemia, and edema. Dysfunction of the glomerular filtration barrier …

Background Two genome-wide association studies on gastric cancer showed a previously
unknown gastric cancer susceptible locus in PLCE1 at 10q23. We hypothesized that the …