Structure of the human PKD1-PKD2 complex Science, 361 (2018), 10.1126/science.aat9819 Google Scholar [68] V.G. Gainullin, K. Hopp, C.J. Ward, C.J. Hommerding, P.C. Harris Polycystin-1 maturation requires polycy
Mutations in either polycystin-1 (PC1 or PKD1) or polycystin-2 (PC2, PKD2 or TRPP1) cause autosomal-dominant polycystic kidney disease (ADPKD) through unknown mechanisms. Here we present the structure of human PC2 in a closed conformation, solved by electron cryomicroscopy at 4.2-Å resolut...
et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol. Cell Proteom. 13, 397–406 (2014). Article CAS Google Scholar Xiao, Z. S. & Quarles, L. D. Role of the polycytin-primary cilia complex in bone ...
Two missense mutations, T174M and M235T, and multiple single-nucleotide polymorphisms, including A(-6)G and A (-20)C in the promoter region of the human AGT gene, have been comprehensively studied.75 These polymorphisms, for example, M235 and A(-6), are in close linkage disequilibrium. ...