[HTML][HTML] Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis

M Barua, E Shieh, J Schlondorff, G Genovese… - Kidney international, 2014 - Elsevier
Our understanding of focal and segmental glomerulosclerosis (FSGS) has advanced
significantly from the studies of rare, monogenic forms of the disease. These studies have …

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

M Schultheiss, RG Ruf, BE Mucha, R Wiggins… - Pediatric …, 2004 - Springer
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of
proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by …

The genetic basis of FSGS and steroid-resistant nephrosis

MR Pollak - Seminars in nephrology, 2003 - Elsevier
Studies of Mendelian forms of focal segmental glomerulosclerosis (FSGS) and nephrotic
syndrome have provided new insights into the mechanism of these diseases. Congenital …

[HTML][HTML] Genetics of hereditary nephrotic syndrome: a clinical review

TS Ha - Korean journal of pediatrics, 2017 - ncbi.nlm.nih.gov
Advances in podocytology and genetic techniques have expanded our understanding of the
pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 …

Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint

MR Pollak - Journal of the American Society of Nephrology, 2002 - journals.lww.com
Recent progress in defining the genetic basis of inherited glomerular disease has helped
illuminate inadequacies in the way we describe many of these diseases. Too often, we talk …

Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations

G Caridi, M Gigante, P Ravani, A Trivelli… - Clinical Journal of the …, 2009 - journals.lww.com
Clinical Features and Long-Term Outcome of Nephrotic Syndrom... : Clinical Journal of the
American Society of Nephrology Clinical Features and Long-Term Outcome of Nephrotic …

[HTML][HTML] NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms

G Caridi, F Perfumo, GM Ghiggeri - Pediatric research, 2005 - nature.com
Nephrotic syndrome (NS) is the most frequent cause of proteinuria in children and is
emerging as a leading cause of uremia. Molecular studies in families with recessive NS …

Focal segmental glomerulosclerosis and chronic kidney disease in pediatric patients

J Kiffel, Y Rahimzada, H Trachtman - Advances in chronic kidney disease, 2011 - Elsevier
Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of acquired
glomerular disease leading to end-stage kidney disease. Its incidence is rising around the …

Genotype–phenotype correlations in non-Finnish congenital nephrotic syndrome

E Machuca, G Benoit, F Nevo, MJ Tête… - Journal of the …, 2010 - journals.lww.com
Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic
syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin …

Intracellular mislocalization of mutant podocin and correction by chemical chaperones

T Ohashi, K Uchida, S Uchida, S Sasaki… - Histochemistry and cell …, 2003 - Springer
The NPHS2 gene encoding the podocin protein was causally linked to the autosomal
recessive type of steroid-resistant nephrotic syndrome. In this study, we investigated the …