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10.1016/j.ajhg.2014.12.002 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2014.12.002 C4289677!4289677!25557784     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2015 ; 96 (1): 81-92 Nephropedia Template TP {{tp|p=25557784|t=2015. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling |pdf=|usr=}}{{25557784}} gab.com Text DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25557784 #FOAvip Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal-hepatic ciliopathy. DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. Knockdown of Dcdc2 in IMCD3 cells disrupts ciliogenesis, which is rescued by wild-type (WT) human DCDC2, but not by constructs that reflect human mutations. We show that DCDC2 interacts with DVL and DCDC2 overexpression inhibits ?-catenin-dependent Wnt signaling in an effect additive to Wnt inhibitors. Mutations detected in human NPHP-RC lack these effects. A Wnt inhibitor likewise restores ciliogenesis in 3D IMCD3 cultures, emphasizing the importance of Wnt signaling for renal tubulogenesis. Knockdown of dcdc2 in zebrafish recapitulates NPHP-RC phenotypes, including renal cysts and hydrocephalus, which is rescued by a Wnt inhibitor and by WT, but not by mutant, DCDC2. We thus demonstrate a central role of Wnt signaling in the pathogenesis of NPHP-RC, suggesting an avenue for potential treatment of NPHP-RC. Twit Text FOAVip DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=25557784 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25557784 #FOAvip English Wikipedia <ref>{{Cite pmid|25557784}}</ref> DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling #MMPMID25557784 Schueler M; Braun D; Chandrasekar G; Gee H; Klasson T; Halbritter J; Bieder A; Porath J; Airik R; Zhou W; LoTurco J; Che A; Otto E; Böckenhauer D; Sebire N; Honzik T; Harris P; Koon S; Gunay-Aygun M; Saunier S; Zerres K; Bruechle N; Drenth J; Pelletier L; Tapia-Páez I; Lifton R; Giles R; Kere J; Hildebrandt F Am J Hum Genet 2015[Jan]; 96 (1): 81-92 PMID25557784show ga Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as causing a renal-hepatic ciliopathy. DCDC2 localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. Knockdown of Dcdc2 in IMCD3 cells disrupts ciliogenesis, which is rescued by wild-type (WT) human DCDC2, but not by constructs that reflect human mutations. We show that DCDC2 interacts with DVL and DCDC2 overexpression inhibits ?-catenin-dependent Wnt signaling in an effect additive to Wnt inhibitors. Mutations detected in human NPHP-RC lack these effects. A Wnt inhibitor likewise restores ciliogenesis in 3D IMCD3 cultures, emphasizing the importance of Wnt signaling for renal tubulogenesis. Knockdown of dcdc2 in zebrafish recapitulates NPHP-RC phenotypes, including renal cysts and hydrocephalus, which is rescued by a Wnt inhibitor and by WT, but not by mutant, DCDC2. We thus demonstrate a central role of Wnt signaling in the pathogenesis of NPHP-RC, suggesting an avenue for potential treatment of NPHP-RC. äDCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Sig(epmc).pdf DeepDyve Pubget Overpricing