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One or more keywords matched the following items that are connected to Hildebrandt, Friedhelm
Item TypeName
Academic Article Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Academic Article FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Concept Gene Knockdown Techniques
Academic Article ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.
Academic Article ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
Academic Article ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
Academic Article Nephrocystin-3 is required for ciliary function in zebrafish embryos.
Academic Article Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.
Academic Article KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Academic Article FAT1 mutations cause a glomerulotubular nephropathy.
Academic Article SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.
Grant Exon capture and large-scale sequencing for disease-cause identification, early d
Academic Article Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease.
Academic Article Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.
Academic Article Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Academic Article Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Search Criteria
  • Gene Knockdown Techniques
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.