Autosomal dominant tubulointerstitial kidney disease: A review

por Živná, Martina, Kidd, Kendrah O., Barešová, Veronika, Hůlková, Helena, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2022

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement

por Buglioni, Alessia, Hasadsri, Linda, Nasr, Samih H., Hogan, Marie C., Moyer, Ann M., Siddique, Khurrum, Kidd, Kendrah, Kmoch, Stanislav, Hodaňová, Kateřina, Bleyer, Anthony J., Alexander, Mariam P.
Publicado 2021

Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD

por Jorge, Sofia, Kidd, Kendrah, Vylet’al, Petr, Nogueira, Estela, Martin, Lauren, Howard, Katrice, Barešová, Veronika, Hodaňová, Kateřina, Hnízda, Aleš, Moldovan, Oana, Silveira, Catarina, Coutinho, Ana Margarida, Lopes, José António, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina
Publicado 2023

Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys

por 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
Publicado 2023

Influence of glycoprotein MUC1 on trafficking of the Ca(2+)-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis

por 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.
Publicado 2023

MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice

por 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
Publicado 2023

Outcomes of Patient Self-Referral for the Diagnosis of Several Rare Inherited Kidney Diseases

por Bleyer, Anthony J., Kidd, Kendrah, Robins, Victoria, Martin, Lauren, Taylor, Abbigail, Santi, Annie, Tsoumas, Georgeanna, Hunt, Alese, Swain, Elizabeth, Abbas, Marwan, Akinbola, Ebun, Vidya, Sri, Moossavi, Shahriar, Bleyer, Anthony J., Živná, Martina, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Votruba, Miroslav, Harden, Maegan, Blumenstiel, Brendan, Greka, Anna, Kmoch, Stanislav
Publicado 2019

The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

por Elhassan, Elhussein A. E., Murray, Susan L., Connaughton, Dervla M., Kennedy, Claire, Cormican, Sarah, Cowhig, Cliona, Stapleton, Caragh, Little, Mark A., Kidd, Kendrah, Bleyer, Anthony J., Živná, Martina, Kmoch, Stanislav, Fennelly, Neil K., Doyle, Brendan, Dorman, Anthony, Griffin, Matthew D., Casserly, Liam, Harris, Peter C., Hildebrandt, Friedhelm, Cavalleri, Gianpiero L., Benson, Katherine A., Conlon, Peter J.
Publicado 2022

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

por Olinger, Eric, Schaeffer, Céline, Kidd, Kendrah, Elhassan, Elhussein A. E., Cheng, Yurong, Dufour, Inès, 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., Köttgen, Anna, Conlon, Peter J., Wiesener, Michael, Sayer, John A., Rampoldi, Luca, Devuyst, Olivier
Publicado 2022

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado 2016

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, 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, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020