The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

By C. Ward, M. Hogan, S. Rossetti, D. Walker, Tam P. Sneddon, Xiaofang Wang, Vickie J. Kubly, J. Cunningham, R. Bacallao, M. Ishibashi and 3 more. Nature Genetics, 2002

744 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/18ccf7d60b3d88780d2a69873dc9ceb5cf35f5e2

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In Genetics

1. P. Beales
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In Molecular Biology

1. Gary D. Stormo
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Citations in the corpus

• The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. (2002, background): “Autosomal recessive polycystic kidney disease (ARPKD) is comparatively less frequent (1: 20,000 live births) and results from mutations in a single gene, PKHD1 (6,7).”
• Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. (2004, background): “Two genes that cause kidney disease in humans, NPHP4 (Mollet et al., 2002) a 3- to 12-fold upregulation of the mRNAs for structural components of the flagella, the IFT complex, and itsand fibrocystin (Ward et al., 2002), are also present in the FABB proteome.”
• The ciliopathies: an emerging class of human genetic disorders. (2006, background): “PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel betahelix 1 repeats.”