Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation
Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Published in Cell metabolism (02.09.2014)
Published in Cell metabolism (02.09.2014)
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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)
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Journal Article
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6
Hartmannová, Hana, Piherová, Lenka, Tauchmannová, Kateřina, Kidd, Kendrah, Acott, Philip D, Crocker, John F S, Oussedik, Youcef, Mallet, Marcel, Hodaňová, Kateřina, Stránecký, Viktor, Přistoupilová, Anna, Barešová, Veronika, Jedličková, Ivana, Živná, Martina, Sovová, Jana, Hůlková, Helena, Robins, Vicki, Vrbacký, Marek, Pecina, Petr, Kaplanová, Vilma, Houštěk, Josef, Mráček, Tomáš, Thibeault, Yves, Bleyer, Anthony J, Kmoch, Stanislav
Published in Human molecular genetics (15.09.2016)
Published in Human molecular genetics (15.09.2016)
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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)
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Journal Article
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)
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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)
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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)
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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)
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Journal Article
Mutations in ANTXR1 Cause GAPO Syndrome
Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana, Hůlková, Helena, Piherová, Lenka, Hehir-Kwa, Jayne Y., de Silva, Deepthi, Senanayake, Manouri P., Farrag, Sameh, Zeman, Jiří, Martásek, Pavel, Baxová, Alice, Afifi, Hanan H., St. Croix, Brad, Brunner, Han G., Temtamy, Samia, Kmoch, Stanislav
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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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)
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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)
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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)
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Journal Article
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency
Baresova, Veronika, Skopova, Vaclava, Sikora, Jakub, Patterson, David, Sovova, Jana, Zikanova, Marie, Kmoch, Stanislav
Published in Human molecular genetics (01.04.2012)
Published in Human molecular genetics (01.04.2012)
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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)
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Journal Article
Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene
Hartmannova, Hana, Kubanek, Milos, Sramko, Marek, Piherova, Lenka, Noskova, Lenka, Hodanova, Katerina, Stranecky, Viktor, Pristoupilova, Anna, Sovova, Jana, Marek, Tomas, Maluskova, Jana, Ridzon, Petr, Kautzner, Josef, Hulkova, Helena, Kmoch, Stanislav
Published in Circulation. Cardiovascular genetics (01.12.2013)
Published in Circulation. Cardiovascular genetics (01.12.2013)
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Journal Article
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Lenk, Guy M., Szymanska, Krystyna, Debska-Vielhaber, Grazyna, Rydzanicz, Malgorzata, Walczak, Anna, Bekiesinska-Figatowska, Monika, Vielhaber, Stefan, Hallmann, Kerstin, Stawinski, Piotr, Buehring, Sonja, Hsu, David A., Kunz, Wolfram S., Meisler, Miriam H., Ploski, Rafal
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Journal Article
Mutation of NgBR, a subunit of cis-prenyltransferase, causes a congenial disorder of glycosylation
Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Hůlková, Helena, Wen, Rong, Kmoch, Stanislav, Sessa, William C.
Published in Cell metabolism (24.07.2014)
Published in Cell metabolism (24.07.2014)
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Journal Article
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
Zivna, Martina, Dostalova, Gabriela, Baresova, Veronika, Musalkova, Dita, Kuchar, Ladislav, Befekadu Asfaw, Poupetova, Helena, Vlaskova, Hana, Kmochova, Tereza, Vyletal, Petr, Hartmannova, Hana, Hodanova, Katerina, Stranecky, Viktor, Steiner-Mrazova, Lenka, Hnizda, Ales, Radina, Martin, Votruba, Miroslav, Sovova, Jana, Treslova, Helena, Stolnaja, Larisa, Rekova, Petra, Roblova, Lenka, Honsova, Eva, Hulkova, Helena, Rychlik, Ivan, Bleyer, Anthony J, Linhart, Ales, Sikora, Jakub, Kmoch, Stanislav
Published in bioRxiv (28.09.2022)
Published in bioRxiv (28.09.2022)
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Paper
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)
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Published in American journal of human genetics (14.08.2009)
Journal Article
Device for fixing goods onto a pallet
SOVOVA JANA, REHACEK JAKUB, SMOLOVA VERONIKA, MATEJCKOVA JANA, PINCOVA KRISTYNA, MATOUSOVA JANA, SLADKOVA LUCIE
Year of Publication 18.04.2012
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Year of Publication 18.04.2012
Patent