Identification of single-gene causes of steroid-resistant nephrotic syndrome (SRNS) has
furthered the understanding of the pathogenesis of this disease. Here, using a combination of …

The identity of niche signals necessary to maintain embryonic nephron progenitors is unclear.
Here we provide evidence that Fgf20 and Fgf9, expressed in the niche, and Fgf9, secreted …

… p.Leu1536Pro and p.Arg1544Cys to the wim locus at position Leu1564. (C) A partial protein
alignment of IFT172 shows evolutionary conservation of the identified missense changes (p.…

… We did not detect the identified p.Leu710Ser and p.Arg1103* variations in WDR19 in 422 …
We did not detect the p.Val345Gly variant in 200 alleles from the same ethnic origin. While …

… P values were calculated by two-tailed Student’s t-test. … P values were calculated with a
Student’s t-test using PRISM software (GraphPad Software), with a two-tailed distribution. The …

… Subsequently, other exome studies identified the heterozygous p.Gly573Ser and p.Gly573Ala
mutations in an Indian patient and a white patient with sporadic OS, respectively. Recently…

… This amino acid is located within the ATP-binding pocket near the magnesium ion, one
amino acid downstream of p.K48, which binds the ATP γ-phosphate. Thus, the p.T49M mutation …

Several genes, mainly involved in podocyte cytoskeleton regulation, have been implicated
in familial forms of primary FSGS. We identified a homozygous missense mutation (p. P209L) …

… The P value for identifying three de novo loss of function mutations in that gene among
204 patients was <0.001 (Supplemental Figure 3). The identification of three de novo loss of …

… larvae at 72 hpf of WT control, elipsa uninjected larvae and elipsa larvae injected with
WT or mutant RNA constructs (p.R154* and p.V459R correspond to the human p.R155* and …