The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations

por Bleyer, Anthony J., Kmoch, Stanislav
Publicado 2020

Enigmatic pruritus in a kidney transplant patient

por Yates, James E., Bleyer, Anthony J., Yosipovitch, Gil, Sangueza, Omar P., Murea, Mariana
Publicado 2013

Enigmatic pruritus in a kidney transplant patient

por Yates, John E., Bleyer, Anthony J., Yosipovitch, Gil, Sangueza, Omar P., Murea, Mariana
Publicado 2013

Autosomal dominant tubulointerstitial kidney disease: A review

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

Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds

por Souckova, Olga, Skopova, Vaclava, Baresova, Veronika, Sedlak, David, Bleyer, Anthony J., Kmoch, Stanislav, Zikanova, Marie
Publicado 2022

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

Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors

por Singh, Gurmukteshwar, Gohh, Reginald, Clark, Dinah, Kalra, Kartik, Das, Manoj, Bradauskaite, Gitana, Bleyer, Anthony J., Tanriover, Bekir, Chang, Alex R., Anand, Prince M.
Publicado 2022

Diabetic nephropathy in a sibling and albuminuria predict early GFR decline: a prospective cohort study

por Gunzler, Douglas, Bleyer, Anthony J, Thomas, Robert L, O’Brien, Alicia, Russell, Gregory B, Sattar, Abdus, Iyengar, Sudha K, Thomas, Charles, Sedor, John R, Schelling, Jeffrey R
Publicado 2013

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

Sexual Dysfunction in Patients With Urinary Bladder Stones but no Bladder Outlet Obstruction

por Gong, Zhi-Cheng, Wu, Zhi-Liang, Wen, Yao-An, Zou, Jie-Peng, Wang, Xisheng, Leng, Xiaoyan, Bleyer, Anthony J., Deng, Chunhua, Feloney, Michael P., Zhang, Yuanyuan, Zhao, Shan-Chao
Publicado 2021

Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022

por Musalkova, Dita, Piherova, Lenka, Kwasny, Ondrej, Dindova, Zuzana, Stancik, Lubor, Hartmannova, Hana, Slama, Otomar, Peckova, Petra, Pargac, Josef, Minarik, Gabriel, Zima, Tomas, Bleyer, Anthony J., Radina, Martin, Pohludka, Michal, Kmoch, Stanislav
Publicado 2023

Impaired Regeneration Potential in Urinary Stem Cells Diagnosed from the Patients with Diabetic Nephropathy

por Xiong, Geng, Tang, Weiqing, Zhang, Deying, He, David, Wei, Guanghui, Atala, Antony, Liang, Xing-Jie, Bleyer, Anthony J., Bleyer, Michael E., Yu, Jie, Aloi, Joseph A., Ma, Jian-Xing, Furdui, Cristina M., Zhang, Yuanyuan
Publicado 2019

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin

por Sicking, Mark, Živná, Martina, Bhadra, Pratiti, Barešová, Veronika, Tirincsi, Andrea, Hadzibeganovic, Drazena, Hodaňová, Kateřina, Vyleťal, Petr, Sovová, Jana, Jedličková, Ivana, Jung, Martin, Bell, Thomas, Helms, Volkhard, Bleyer, Anthony J, Kmoch, Stanislav, Cavalié, Adolfo, Lang, Sven
Publicado 2022

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

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

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

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

por Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Publicado 2013