Now showing items 1-4 of 4
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
(Springer-Verlag; IPNA, 2003-06)
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here ...
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
(Springer-Verlag; IPNA, 2006-01)
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal ...
NPHS2 mutation associated with recurrence of proteinuria after transplantation
(Springer-Verlag; IPNA, 2004-05)
Mutations in the NPHS2 gene encoding podocin are associated with steroid-resistant nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental glomerulosclerosis (FSGS). It is unclear to what ...
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
(Springer-Verlag; IPNA, 2004-12)
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 recessive mutations in NPHS2 (podocin). ...