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Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease Musalkova, Dita; Radina, Martin; Kidd, Kendrah; Hartmannova, Hana; Treslova, Helena; Hodanova, Katerina; Vyletal, Petr; Vrbacka, Alena; Votruba, Miroslav; Sanchez, Antonio; Martin, Lauren; Taylor, Abbigail; Kim, Alice; Kulhava, Lucie Rudl; Hricko, Jiri; Cajka, Tomas; Zivna, Martina; Bleyer, Anthony J.; Kmoch, Stanislav Share Save
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Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies McAnallen, Susan M.; Elhassan, Elhussein A. E.; Stoneman, Sinead; Vairo, Filippo Pinto e; Hogan, Marie C.; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M.; Jorge, Sofia; Calado, Joaquim; Decramer, Stephane; Colliou, Eloise; Tellier, Stephanie; Francisco, Telma; Servais, Aude; Cornet, Josephine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F.; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kalman, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J.; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J.; Mallett, Andrew J.; Sayer, John A.; Schafer, Franz; Benson, Katherine A.; McCann, Emma; Conlon, Peter J. Share Save
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada Schott, Clara; Arnaldi, Monica; Baker, Cadence; Wang, Jian; Mcintyre, Adam D.; Colaiacovo, Samantha; Relouw, Sydney; Offerni, Gabriela Almada; Campagnolo, Carla; Nynatten, Logan R. Van; Pourtousi, Ava; Drago-Catalfo, Alexa; Lebedeva, Victoria; Chiu, Michael; Cowan, Andrea; Filler, Guido; Gunaratnam, Lakshman; House, Andrew A.; Huang, Susan; Iyer, Hariharan; Jain, Arsh K.; Jevnikar, Anthony M.; Lotfy, Khaled; Moist, Louise; Rehman, Faisal; Roshanov, Pavel S.; Sharma, Ajay P.; Weir, Matthew A.; Kidd, Kendrah; Bleyer, Anthony J.; Hegele, Robert A.; Connaughton, Dervla M. Share Save
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection Fages, Victor; Bourre, Florentin; Larrue, Romain; Wenzel, Andrea; Gibier, Jean-Baptiste; Bonte, Fabrice; Dhaenens, Claire -Marie; Kidd, Kendrah; Kmoch, Stanislav; Bleyer, Anthony; Glowacki, Francois; Grunewald, Olivier Share Save
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis Kmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, Viktor; Robins, Victoria C.; Taylor, Abbigail; Martin, Lauren; Rivas-Chavez, Ana; Payne, Riley; Bleyer, Heidi A.; Williams, Adrienne; Rennke, Helmut G.; Weins, Astrid; Short, Patrick J.; Agrawal, Varun; Storsley, Leroy J.; Waikar, Sushrut S.; McPhail, Ellen D.; Dasari, Surendra; Leung, Nelson; Hewlett, Tom; Yorke, Jake; Gaston, Daniel; Geldenhuys, Laurette; Samuels, Mark; Levine, Adam P.; West, Michael; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav Share Save
MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice Kim, Yeawon; Li, Chuang; Gu, Chenjian; Fang, Yili; Tycksen, Eric; Puri, Anuradhika; Pietka, Terri A.; Sivapackiam, Jothilingam; Kidd, Kendrah; Park, Sun-Ji; Johnson, Bryce G.; Kmoch, Stanislav; Duffield, Jeremy S.; Bleyer, Anthony J.; Jackrel, Meredith E.; Urano, Fumihiko; Sharma, Vijay; Lindahl, Maria; Chen, Ying Maggie Share Save
Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family de Haan, Amber; van Eerde, Albertien M.; Eijgelsheim, Mark; Rump, Patrick; van der Zwaag, Bert; Hennekam, Eric; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J.; Kidd, Kendrah; Vogt, Liffert; Knoers, Nine V. A. M.; de Borst, Martin H. Share Save
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD Jorge, Sofia; Kidd, Kendrah; Vylet'al, Petr; Nogueira, Estela; Martin, Lauren; Howard, Katrice; Baresova, Veronika; Hodanova, Katerina; Hnizda, Ales; Moldovan, Oana; Silveira, Catarina; Coutinho, Ana Margarida; Lopes, Jose Antonio; Bleyer, Anthony J.; Kmoch, Stanislav; Zivna, Martina Share Save
Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys Airik, Merlin; Arbore, Haley; Childs, Elizabeth; Huynh, Amy B.; Phua, Yu Leng; Chen, Chi Wei; Aird, Katherine; Bharathi, Sivakama; Zhang, Bob; Conlon, Peter; Kmoch, Stanislav; Kidd, Kendrah; Bleyer, Anthony J.; Vockley, Jerry; Goetzman, Eric; Wipf, Peter; Airik, Rannar Share Save
Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis Al-bataineh, Mohammad M.; Kinlough, Carol L.; Marciszyn, Allison; Lam, Tracey; Ye, Lorena; Kidd, Kendrah; Maggiore, Joseph C.; Poland, Paul A.; Kmoch, Stanislav; Bleyer, Anthony; Bain, Daniel J.; Montalbetti, Nicolas; Kleyman, Thomas R.; Hughey, Rebecca P.; Ray, Evan C. Share Save
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease Olinger, Eric; Schaeffer, Celine; Kidd, Kendrah; Elhassan, Elhussein A. E.; Cheng, Yurong; Dufour, Ines; Schiano, Guglielmo; Mabillard, Holly; Pasqualetto, Elena; Hofmann, Patrick; Fuster, Daniel G.; Kistler, Andreas D.; Wilson, Ian J.; Kmoch, Stanislav; Raymond, Laure; Robert, Thomas; Eckardt, Kai-Uwe; Bleyer, Anthony J., Sr.; Koettgen, Anna; Conlon, Peter J.; Wiesener, Michael; Sayer, John A.; Rampoldi, Luca; Devuyst, Olivier Share Save
Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement Buglioni, Alessia; Hasadsri, Linda; Nasr, Samih H.; Hogan, Marie C.; Moyer, Ann M.; Siddique, Khurrum; Kidd, Kendrah; Kmoch, Stanislav; Hodanova, Katerina; Bleyer, Anthony J.; Alexander, Mariam P. Share Save
Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease Kim, Yeawon; Wang, Zheyu; Li, Chuang; Kidd, Kendrah; Wang, Yixuan; Johnson, Bryce G.; Kmoch, Stanislav; Morrissey, Jeremiah J.; Bleyer, Anthony J.; Duffield, Jeremy S.; Singamaneni, Srikanth; Chen, Ying Maggie Share Save
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations Vylet'al, Petr; Kidd, Kendrah; Ainsworth, Hannah C.; Springer, Drahomira; Vrbacka, Alena; Pristoupilova, Anna; Hughey, Rebecca P.; Alper, Seth L.; Lennon, Niall; Harrison, Steven; Harden, Maegan; Robins, Victoria; Taylor, Abbigail; Martin, Lauren; Howard, Katrice; Bitar, Ibrahim; Langefeld, Carl D.; Baresova, Veronika; Hartmannova, Hana; Hodanova, Katerina; Zima, Tomas; Zivna, Martina; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes Zivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, Agnieszka; Clissold, Rhian; Shaw-Smith, Charles; Munshi, Raj; Haws, Robert M.; Izzi, Claudia; Capelli, Irene; Santostefano, Marisa; Graziano, Claudio; Scolari, Francesco; Sussman, Amy; Trachtman, Howard; Decramer, Stephane; Matignon, Marie; Grimbert, Philippe; Shoemaker, Lawrence R.; Stavrou, Christoforos; Abdelwahed, Mayssa; Belghith, Neila; Sinclair, Matthew; Claes, Kathleen; Kopel, Tal; Moe, Sharon; Deltas, Constantinos; Knebelmann, Bertrand; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations Kidd, Kendrah; Vylet'al, Petr; Schaeffer, Celine; Olinger, Eric; Zivna, Martina; Hodanova, Katerina; Robins, Victoria; Johnson, Emily; Taylor, Abbigail; Martin, Lauren; Izzi, Claudia; Jorge, Sofia C.; Calado, Joaquim; Torres, Rosa J.; Lhotta, Karl; Steubl, Dominik; Gale, Daniel P.; Gast, Christine; Gombos, Eva; Ainsworth, Hannah C.; Chen, Ying Maggie; Almeida, Jorge Reis; Souza, Cintia Fernandes de; Silveira, Catarina; Raposeiro, Rita; Weller, Nelson; Conlon, Peter J.; Murray, Susan L.; Benson, Katherine A.; Cavalleri, Gianpiero L.; Votruba, Miroslav; Vrbacka, Alena; Amoroso, Antonio; Gianchino, Daniela; Caridi, Gianluca; Ghiggeri, Gian Marco; Divers, Jasmin; Scolari, Francesco; Devuyst, Olivier; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J. Share Save
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 Olinger, Eric; Hofmann, Patrick; Kidd, Kendrah; Dufour, Ines; Belge, Hendrica; Schaeffer, Celine; Kipp, Anne; Bonny, Olivier; Deltas, Constantinos; Demoulin, Nathalie; Fehr, Thomas; Fuster, Daniel G.; Gale, Daniel P.; Goffin, Eric; Hodanova, Katerina; Huynh-Do, Uyen; Kistler, Andreas; Morelle, Johann; Papagregoriou, Gregory; Pirson, Yves; Sandford, Richard; Sayer, John A.; Torra, Roser; Venzin, Christina; Venzin, Reto; Vogt, Bruno; Zivna, Martina; Greka, Anna; Dahan, Karin; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J., Sr.; Devuyst, Olivier Share Save
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