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XB--483408
Papers associated with pkd1 (and OMIM)
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Disease-associated missense mutations in the pore loop of polycystin-2 alter its ion channel function in a heterologous expression system., Staudner T, Geiges L, Khamseekaew J, Sure F, Korbmacher C, Ilyaskin AV., J Biol Chem. August 14, 2024; 300 (8): 107574.  |
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Deep learning is widely applicable to phenotyping embryonic development and disease., Naert T, Çiçek Ö, Ogar P, Bürgi M, Shaidani NI, Kaminski MM, Xu Y, Grand K, Vujanovic M, Prata D, Hildebrandt F, Brox T, Ronneberger O, Voigt FF, Helmchen F, Loffing J, Horb ME, Willsey HR, Lienkamp SS., Development. November 1, 2021; 148 (21):  |
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A polycystin-2 protein with modified channel properties leads to an increased diameter of renal tubules and to renal cysts., Grosch M, Brunner K, Ilyaskin AV, Schober M, Staudner T, Schmied D, Stumpp T, Schmidt KN, Madej MG, Pessoa TD, Othmen H, Kubitza M, Osten L, de Vries U, Mair MM, Somlo S, Moser M, Kunzelmann K, Ziegler C, Haerteis S, Korbmacher C, Witzgall R., J Cell Sci. August 15, 2021; 134 (16):  |
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Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM, Miller RK., Dis Model Mech. April 9, 2019; 12 (4):  |
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Hydrophobic pore gates regulate ion permeation in polycystic kidney disease 2 and 2L1 channels., Zheng W, Yang X, Hu R, Cai R, Hofmann L, Wang Z, Hu Q, Liu X, Bulkley D, Yu Y, Tang J, Flockerzi V, Cao Y, Cao E, Chen XZ., Nat Commun. June 13, 2018; 9 (1): 2302.  |
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Polycystin 1 loss of function is directly linked to an imbalance in G-protein signaling in the kidney., Zhang B, Tran U, Wessely O., Development. March 22, 2018; 145 (6):  |
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The Sorting Nexin 3 Retromer Pathway Regulates the Cell Surface Localization and Activity of a Wnt-Activated Polycystin Channel Complex., Feng S, Streets AJ, Nesin V, Tran U, Nie H, Onopiuk M, Wessely O, Tsiokas L, Ong ACM., J Am Soc Nephrol. October 1, 2017; 28 (10): 2973-2984. |
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Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation., Streets AJ, Wessely O, Peters DJ, Ong AC., Hum Mol Genet. May 15, 2013; 22 (10): 1924-39. |
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