cystic kidney disease

Literature (17)

Literature for DOID 2975: cystic kidney disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Signal transduction. Mating, channels and kidney cysts., Emmons SW,Somlo S, Nature. September 23, 1999; 401(6751):0143-5221.
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):1083-351X.
Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function., Renigunta A,Renigunta V,Saritas T,Decher N,Mutig K,Waldegger S, J Biol Chem. January 21, 2011; 286(3):1083-351X.
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):1460-2083.
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S,Halbritter J,Epting D,Frank V,Nguyen TM,van Reeuwijk J,Boehlke C,Schell C,Yasunaga T,Helmstädter M,Mergen M,Filhol E,Boldt K,Horn N,Ueffing M,Otto EA,Eisenberger T,Elting MW,van Wijk JA,Bockenhauer D,Sebire NJ,Rittig S,Vyberg M,Ring T,Pohl M,Pape L,Neuhaus TJ,Elshakhs NA,Koon SJ,Harris PC,Grahammer F,Huber TB,Kuehn EW,Kramer-Zucker A,Bolz HJ,Roepman R,Saunier S,Walz G,Hildebrandt F,Bergmann C,Lienkamp SS, Nat Genet. August 1, 2013; 45(8):1546-1718.
Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
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):1533-3450.
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):1477-9129.
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 Y,Cao E,Chen XZ, Nat Commun. June 13, 2018; 9(1):2041-1723.
Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. April 9, 2019; 12(4):1754-8411.
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):1090-2104.
Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.
Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. February 1, 2021; 59(1-2):1526-968X.
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):1477-9137.
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.
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,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):1477-9129.
The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus., Angerilli A,Tait J,Berges J,Shcherbakova I,Pokrovsky D,Schauer T,Smialowski P,Hsam O,Mentele E,Nicetto D,Rupp RA, Life Sci Alliance. July 1, 2023; 6(7):2575-1077.

Signal transduction. Mating, channels and kidney cysts., Emmons SW,Somlo S, Nature. September 23, 1999; 401(6751):0143-5221.

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):1083-351X.

Tamm-Horsfall glycoprotein interacts with renal outer medullary potassium channel ROMK2 and regulates its function., Renigunta A,Renigunta V,Saritas T,Decher N,Mutig K,Waldegger S, J Biol Chem. January 21, 2011; 286(3):1083-351X.

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):1460-2083.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3., Hoff S,Halbritter J,Epting D,Frank V,Nguyen TM,van Reeuwijk J,Boehlke C,Schell C,Yasunaga T,Helmstädter M,Mergen M,Filhol E,Boldt K,Horn N,Ueffing M,Otto EA,Eisenberger T,Elting MW,van Wijk JA,Bockenhauer D,Sebire NJ,Rittig S,Vyberg M,Ring T,Pohl M,Pape L,Neuhaus TJ,Elshakhs NA,Koon SJ,Harris PC,Grahammer F,Huber TB,Kuehn EW,Kramer-Zucker A,Bolz HJ,Roepman R,Saunier S,Walz G,Hildebrandt F,Bergmann C,Lienkamp SS, Nat Genet. August 1, 2013; 45(8):1546-1718.

Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

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):1533-3450.

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):1477-9129.

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 Y,Cao E,Chen XZ, Nat Commun. June 13, 2018; 9(1):2041-1723.

Modeling congenital kidney diseases in Xenopus laevis., Blackburn ATM,Miller RK, Dis Model Mech. April 9, 2019; 12(4):1754-8411.

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):1090-2104.

Aquatic models of human ciliary diseases., Corkins ME,Krneta-Stankic V,Kloc M,Miller RK, Genesis. February 1, 2021; 59(1-2):1526-968X.

Xenopus to the rescue: A model to validate and characterize candidate ciliopathy genes., Rao VG,Kulkarni SS, Genesis. February 1, 2021; 59(1-2):1526-968X.

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):1477-9137.

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease., Getwan M,Hoppmann A,Schlosser P,Grand K,Song W,Diehl R,Schroda S,Heeg F,Deutsch K,Hildebrandt F,Lausch E,Köttgen A,Lienkamp SS, Proc Natl Acad Sci U S A. September 28, 2021; 118(39):1091-6490.

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,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):1477-9129.

The histone H4K20 methyltransferase SUV4-20H1/KMT5B is required for multiciliated cell differentiation in Xenopus., Angerilli A,Tait J,Berges J,Shcherbakova I,Pokrovsky D,Schauer T,Smialowski P,Hsam O,Mentele E,Nicetto D,Rupp RA, Life Sci Alliance. July 1, 2023; 6(7):2575-1077.