Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
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
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
Get full text
Journal Article
Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases
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, Jr, Anthony J, Živná, Martina, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Votruba, Miroslav, Harden, Maegan, Blumenstiel, Brendan, Greka, Anna, Kmoch, Stanislav
Published in Genetics in medicine (01.01.2020)
Published in Genetics in medicine (01.01.2020)
Get full text
Journal Article
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, Drahomíra, Vrbacká, Alena, Přistoupilová, 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., Barešová, Veronika, Hartmannová, Hana, Hodaňová, Kateřina, Zima, Tomáš, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J.
Published in American journal of nephrology (01.07.2021)
Published in American journal of nephrology (01.07.2021)
Get full text
Journal Article
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, Barešová, Veronika, Hodaňová, Kateřina, Hnízda, Aleš, Moldovan, Oana, Silveira, Catarina, Coutinho, Ana Margarida, Lopes, José António, Bleyer, Anthony J., Kmoch, Stanislav, Živná, Martina
Published in Kidney international reports (01.05.2023)
Published in Kidney international reports (01.05.2023)
Get full text
Journal Article
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1
Bleyer, Anthony J, Kmoch, Stanislav, Antignac, Corinne, Robins, Vicki, Kidd, Kendrah, Kelsoe, John R, Hladik, Gerald, Klemmer, Philip, Knohl, Stephen J, Scheinman, Steven J, Vo, Nam, Santi, Ann, Harris, Alese, Canaday, Omar, Weller, Nelson, Hulick, Peter J, Vogel, Kristen, Rahbari-Oskoui, Frederick F, Tuazon, Jennifer, Deltas, Constantinos, Somers, Douglas, Megarbane, Andre, Kimmel, Paul L, Sperati, C John, Orr-Urtreger, Avi, Ben-Shachar, Shay, Waugh, David A, McGinn, Stella, Bleyer, Jr, Anthony J, Hodanová, Katerina, Vylet'al, Petr, Živná, Martina, Hart, Thomas C, Hart, P Suzanne
Published in Clinical journal of the American Society of Nephrology (01.03.2014)
Published in Clinical journal of the American Society of Nephrology (01.03.2014)
Get full text
Journal Article
Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
Bleyer, Anthony J, Kidd, Kendrah, Johnson, Emily, Robins, Victoria, Martin, Lauren, Taylor, Abbigail, Pinder, Alexander J, Bowline, Isai, Frankova, Vera, Živná, Martina, Taylor, Kate B, Kim, Nathan, Baek, Janet J, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Votruba, Miroslav, Kmoch, Stanislav
Published in Clinical nephrology (01.12.2019)
Published in Clinical nephrology (01.12.2019)
Get full text
Journal Article
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
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.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Jedličková, Ivana, Cadieux-Dion, Maxime, Přistoupilová, Anna, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Hůlková, Helena, Sikora, Jakub, Nosková, Lenka, Mušálková, Dita, Vyleťal, Petr, Sovová, Jana, Cossette, Patrick, Andermann, Eva, Andermann, Frederick, Kmoch, Stanislav
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
Get full text
Journal Article
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease
Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Vrbacká, Alena, Vyleťal, Petr, Živný, Jan, Votruba, Miroslav, Sovová, Jana, Hůlková, Helena, Robins, Victoria, Perry, Rebecca, Wenzel, Andrea, Beck, Bodo B, Seeman, Tomáš, Viklický, Ondřej, Rajnochová-Bloudíčková, Sylvie, Papagregoriou, Gregory, Deltas, Constantinos C, Alper, Seth L, Greka, Anna, Bleyer, Anthony J, Kmoch, Stanislav
Published in Journal of the American Society of Nephrology (01.09.2018)
Published in Journal of the American Society of Nephrology (01.09.2018)
Get full text
Journal Article
Uromodulin Biology and Pathophysiology – An Update
Vyletal, Petr, Bleyer, Anthony J., Kmoch, Stanislav
Published in Kidney & blood pressure research (01.01.2010)
Published in Kidney & blood pressure research (01.01.2010)
Get full text
Journal Article
Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin
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
Published in Life science alliance (01.04.2022)
Published in Life science alliance (01.04.2022)
Get full text
Journal Article
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, 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.
Published in Kidney international reports (01.09.2020)
Published in Kidney international reports (01.09.2020)
Get full text
Journal Article
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
Elhassan, Elhussein A.E., Kmochová, Tereza, Benson, Katherine A., Fennelly, Neil K., Barešová, Veronika, Kidd, Kendrah, Doyle, Brendan, Dorman, Anthony, Morrin, Martina M., Kyne, Niamh C., Vyleťal, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Sovová, Jana, Mušálková, Dita, Vrbacká, Alena, Přistoupilová, Anna, Živný, Jan, Svojšová, Klára, Radina, Martin, Stránecký, Viktor, Loginov, Dmitry, Pompach, Petr, Novák, Petr, Vaníčková, Zdislava, Hansíková, Hana, Rajnochová-Bloudíčková, Silvie, Viklický, Ondřej, Hůlková, Helena, Cavalleri, Gianpiero L., Hnízda, Aleš, Bleyer, Anthony J., Kmoch, Stanislav, Conlon, Peter J., Živná, Martina
Published in Kidney international reports (01.07.2024)
Published in Kidney international reports (01.07.2024)
Get full text
Journal Article
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
Živná, Martina, Hůlková, Helena, Matignon, Marie, Hodaňová, Kateřina, Vylet'al, Petr, Kalbáčová, Marie, Barešová, Veronika, Sikora, Jakub, Blažková, Hana, Živný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P. Suzanne, Hart, Thomas C., Adams, Jeremy N., Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kapp, Katja, Grimbert, Philippe, Bleyer, Anthony J., Kmoch, Stanislav
Published in American journal of human genetics (14.08.2009)
Published in American journal of human genetics (14.08.2009)
Get full text
Journal Article
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
Hodaňová, Kateřina, Majewski, Jacek, Kublová, Martina, Vyleťal, Petr, Kalbáčová, Marie, Stibůrková, Blanka, Hůlková, Helena, Chagnon, Yvon C., Lanouette, Christian-Marc, Marinaki, Anthony, Fryns, Jean-Pierre, Venkat-Raman, Gopalakrishnan, Kmoch, Stanislav
Published in Kidney international (01.10.2005)
Published in Kidney international (01.10.2005)
Get full text
Journal Article
Increased Susceptibility and 9-Fold Increased Mortality From COVID-19 in Patients With ADTKD-MUC1: TH-PO380
Kidd, Kendrah O., Vyletal, Petr, Kim, Alice, Taylor, Abbigail, Zivna, Martina, Stavrou, Christoforos, Conlon, Peter J., Hogan, Richard E., Papagregoriou, Gregory, Kmoch, Stanislav, Bleyer, Anthony J.
Published in Journal of the American Society of Nephrology (01.11.2022)
Published in Journal of the American Society of Nephrology (01.11.2022)
Get full text
Journal Article
Dominant Renin Gene Mutations Associated with Early-On set Hyperuricemia, Anemia, and Chronic Kidney Failure
Zivná, Martina, Hulková, Helena, Matignon, Marie, Hodanová, Katerina, Vylet'al, Petr, Kalbácová, Marie, Baresová, Veronika, Sikora, Jakub, Blazková, Hana, Zivný, Jan, Ivánek, Robert, Stránecký, Viktor, Sovová, Jana, Claes, Kathleen, Lerut, Evelyne, Fryns, Jean-Pierre, Hart, P Suzanne, Hart, Thomas C, Adams, Jeremy N, Pawtowski, Audrey, Clemessy, Maud, Gasc, Jean-Marie, Gübler, Marie-Claire, Antignac, Corinne, Elleder, Milan, Kappz, Katja, Grimbert, Philippe, Bleyer, Anthony J, Kmoch, Stanislav
Published in American journal of human genetics (14.08.2009)
Get full text
Published in American journal of human genetics (14.08.2009)
Journal Article
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
Živná, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Kateřina, Sovová, Jana, Hartmannová, Hana, Votruba, Miroslav, Trešlová, Helena, Jedličková, Ivana, Sikora, Jakub, Hůlková, Helena, Robins, Victoria, Hnízda, Aleš, Živný, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kálmán, Häeffner, Karsten, Wolf, Matthias T.F., Bleyer, Michael E., Sayer, John A., Ong, Albert C.M., Balogh, Lídia, Jakubowska, Anna, Łaszkiewicz, 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.
Published in Kidney international (01.12.2020)
Published in Kidney international (01.12.2020)
Get full text
Journal Article
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis
Kmochová, Tereza, Kidd, Kendrah O., Orr, Andrew, Hnízda, Aleš, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Naušová, Karolína, Brinsa, Vítězslav, Trešlová, Helena, Sovová, Jana, Barešová, Veronika, Svojšová, Klára, Vrbacká, Alena, Stránecký, 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, Hůlková, Helena, Pompach, Petr, Novák, Petr, Weinberg, Richard B., Bedard, Karen, Živná, Martina, Sikora, Jakub, Bleyer, Anthony J., Kmoch, Stanislav
Published in Kidney international (01.04.2024)
Published in Kidney international (01.04.2024)
Get full text
Journal Article
SP025Aberrant biogenesis and trafficking of secretory proteins is a common pathogenetic mechanism of autosomal dominant tubulointerstitial kidney disease (ADTKD)
Zivna, Martina, Vyleťal, Petr, Barešová, Veronika, Hodaňová, Katerina, Stránecký, Viktor, Hartmannová, Hana, Hůlková, Helena, Jedlickova, Ivana, Sovova, Jana, Kidd, Kendrah, Bleyer, Anthony J, Kmoch, Stanislav
Published in Nephrology, dialysis, transplantation (01.06.2019)
Published in Nephrology, dialysis, transplantation (01.06.2019)
Get full text
Journal Article