Concepedia

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug,

Kidney International · 2023 · 50 citations · 28 references

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28

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update

Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

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Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Matias Simons, Joachim Gloy, Athina Ganner et al. · Nature Genetics · 2005 · 756 citations

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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 · 642 citations · Full text

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Sonic hedgehog regulates proliferation and differentiation of mesenchymal cells in the mouse metanephric kidney

Jing Yu, Thomas J. Carroll, Andrew P. McMahon · Development · 2002 · 440 citations

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Centriole distal appendages promote membrane docking, leading to cilia initiation

B Tanos, Hui-Ju Yang, Rajesh K. Soni et al. · Genes & Development · 2013 · 427 citations · Full text

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