After decades of primarily morphological study, positional cloning of the NPHS1 gene was
the landmark event that established aberrant podocyte genetics as a pivotal cause of …

Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused
by defects in primary cilia. Here we identified mutations in TRAF3IP1 (TNF Receptor …

The critical role of genetic and epigenetic factors in the pathogenesis of kidney disorders is
gradually becoming clear, and the need for disease models that recapitulate human kidney …

Genetic diagnosis of steroid-resistant nephrotic syndrome (SRNS) using Sanger sequencing
is complicated by the high genetic heterogeneity and phenotypic variability of this disease …

The list of rare inherited disorders with renal involvement is rapidly growing. Many are single
gene diseases affecting children, but cases are not restricted to pediatrics and diagnosis is …

End-stage renal disease (ESRD) presenting in a familial autosomal dominant pattern points
to an underlying monogenic cause. Nail-patella syndrome (NPS) is an autosomal dominant …

Genetic testing may have broad benefits for patients and their families. Knowing the precise
molecular etiology of disease can help clinicians determine the exact therapeutic course …

Abstract Genetic Renal Disease (GRD) presents to mainstream clinicians as a mixture of
kidney-specific as well as multi-organ entities, many with highly variable phenotype …

FSGS is a molecularly heterogeneous disease, and can be classified into primary or
secondary disease. Primary FSGS can be due to immune or genetic causes. To date, more …