Friedhelm Hildebrandt

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

Francesc R. García-Gonzalo, Kevin C. Corbit, Ma Salomé Sirerol-Piquer et al. · Nature Genetics · 2011 · 647 citations · Full text

Developmental Biology, Organelle Dynamic, Cell Organelle +8

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Edgar A. Otto, Bernhard Schermer, Tomoko Obara et al. · Nature Genetics · 2003 · 641 citations · Full text

Pathogenesis, Immunology, Iga Glomerulonephritis +6

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf et al. · Journal of the American Society of Nephrology · 2014 · 637 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +19

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit et al. · Cell · 2011 · 617 citations · Full text

Molecular Neuroscience, Disease Mechanism, Glioma +7

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

Transcription Factor Atf4, Transcriptional Regulation, Developmental Biology +10