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XB--482110
Papers associated with pkd2 (and Disease Ontology)
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates., Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B., Nat Genet. January 1, 2022; 54 (1): 62-72. |
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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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Aquatic models of human ciliary diseases., Corkins ME, Krneta-Stankic V, Kloc M, Miller RK., Genesis. February 1, 2021; 59 (1-2): e23410.  |
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A PKD1L3 splice variant in taste buds is not cleaved at the G protein-coupled receptor proteolytic site., Kashyap P, Ng C, Wang Z, Li B, Arif Pavel M, Martin H, Yu Y., Biochem Biophys Res Commun. May 14, 2019; 512 (4): 812-818.  |
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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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Using Xenopus to study genetic kidney diseases., Lienkamp SS., Semin Cell Dev Biol. March 1, 2016; 51 117-24.  |
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The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality., Boskovski MT, Yuan S, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK., Nature. December 19, 2013; 504 (7480): 456-9.  |
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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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Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein., Duning K, Rosenbusch D, Schlüter MA, Tian Y, Kunzelmann K, Meyer N, Schulze U, Markoff A, Pavenstädt H, Weide T., J Biol Chem. October 29, 2010; 285 (44): 33584-8. |
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