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Cited by 338

The DOI matches its Crossref record; 172 of the 172 references it cites were found in a registry or an index.

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease

Open access
Harris, Peter C., Torres, Vicente E.·2014·Journal of Clinical Investigation

Abstract

Recent advances in defining the genetic mechanisms of disease causation and modification in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some extreme disease manifestations and other phenotypic variability. Studies of the ADPKD proteins, polycystin-1 and -2, and the development and characterization of animal models that better mimic the human disease, have also helped us to understand pathogenesis and facilitated treatment evaluation. In addition, an improved understanding of aberrant downstream pathways in ADPKD, such as proliferation/secretion-related signaling, energy metabolism, and activated macrophages, in which cAMP and calcium changes may play a role, is leading to the identification of therapeutic targets. Finally, results from recent and ongoing preclinical and clinical trials are greatly improving the prospects for available, effective ADPKD treatments.

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Crossref · 10.1172/jci72272

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Metadata

Authors
Harris, P. C., & Torres, V. E.
Venue
Journal of Clinical Investigation
Published
2014-06-02
Volume
124
Issue
6
Pages
2315-2324
ISSN
0021-9738 (ISSN-L)
OpenAlex
W2053062434
Cited by
338
References
172
FWCI
18.82
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. https://app.cochat.ai/papers/10.1172/jci72272
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Harris, P. C., & Torres, V. E. (2014). Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. Journal of Clinical Investigation. https://doi.org/10.1172/jci72272

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.