NPHS2 mutations account for only 15 % of nephrotic syndrome cases

KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

(2015) Heon Yung Gee et al.   JOURNAL OF CLINICAL INVESTIGATION

Lmx1b and FoxC Combinatorially Regulate Podocin Expression in Podocytes

(2014) B. He et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genotype–phenotype associations in WT1 glomerulopathy

(2014) Beata S. Lipska et al.   KIDNEY INTERNATIONAL

NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

(2013) Karim Bouchireb et al.   HUMAN MUTATION

Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

(2011) Simone Sanna-Cherchi et al.   KIDNEY INTERNATIONAL

New perspectives on the renal slit diaphragm protein podocin

(2011) Manfred Relle et al.   MODERN PATHOLOGY

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

(2010) Dominik S. Schoeb et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations

(2010) Geneviève Benoit et al.   PEDIATRIC NEPHROLOGY

SpliceAid: a database of experimental RNA target motifs bound by splicing proteins in humans

(2009) F. Piva et al.   BIOINFORMATICS

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

(2009) Eduardo Machuca et al.   KIDNEY INTERNATIONAL

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Nephrin Mutations Can Cause Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2008) A. Philippe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY