Focal segmental glomerulosclerosis (FSGS) is a common cause of steroid-resistant
nephrotic syndrome in children and adults. Although FSGS is considered a podocyte …

Proteinuric kidney diseases are a group of disorders with diverse pathological mechanisms
associated with significant losses of protein in the urine. The glomerular filtration barrier …

Results We identified causing mutations in 34%(37/110) of SRNS patients, representing
67%(16/24) familial and 25%(21/86) sporadic cases. Mutations were detected in 100% of …

A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly
syndromes are characterized by skeletal anomalies accompanied by multiorgan defects …

Monogenic disorders result from defects in a single gene. According to Mendel's laws, these
disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive …

Genetic variation at the MYH9 locus is linked to the high incidence of focal segmental
glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease among African …

Mutations in the inverted formin 2 gene (INF2) have recently been identified as the most
common cause of autosomal dominant focal and segmental glomerulosclerosis (FSGS). To …

Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type
presenting before the first 3 months of life. Recently, NPHS1 mutations have also been …

Kidney research is entering an era of 'big data'and molecular omics data can provide
comprehensive insights into the molecular footprints of cells. In contrast to transcriptomics …

Focal segmental glomerulosclerosis (FSGS) is a histologic lesion resulting from a variety of
pathogenic processes that cause injury to the podocytes. Recently, mutations in more than …