Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report von Eckardt, Kai-Uwe, Alper, Seth L., Antignac, Corinne, Bleyer, Anthony J., Chauveau, Dominique, Dahan, Karin, Deltas, Constantinos, Hosking, Andrew, Kmoch, Stanislav, Rampoldi, Luca, Wiesener, Michael, Wolf, Matthias T., Devuyst, Olivier

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Autosomal dominant tubulointerstitial kidney disease von Devuyst, Olivier, Olinger, Eric, Weber, Stefanie, Eckardt, Kai-Uwe, Kmoch, Stanislav, Rampoldi, Luca, Bleyer, Anthony J.

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Adenylosuccinate lyase deficiency von Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna

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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 von Olinger, Eric, Hofmann, Patrick, Kidd, Kendrah, Dufour, Inès, Belge, Hendrica, Schaeffer, Céline, Kipp, Anne, Bonny, Olivier, Deltas, Constantinos, Demoulin, Nathalie, Fehr, Thomas, Fuster, Daniel G., Gale, Daniel P., Goffin, Eric, Hodaňová, Kateřina, Huynh-Do, Uyen, Kistler, Andreas, Morelle, Johann, Papagregoriou, Gregory, Pirson, Yves, Sandford, Richard, Sayer, John A., Torra, Roser, Venzin, Christina, Venzin, Reto, Vogt, Bruno, Živná, Martina, Greka, Anna, Dahan, Karin, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J., Devuyst, Olivier

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Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β von Bleyer, Anthony J., Wolf, Matthias T., Kidd, Kendrah O., Zivna, Martina, Kmoch, Stanislav

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

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Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice von Nakajima, Kazuo, Miranda, Alannah, Craig, David W., Shekhtman, Tatyana, Kmoch, Stanislav, Bleyer, Anthony, Szelinger, Szabolcs, Kato, Tadafumi, Kelsoe, John R.

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ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder von Przyklenk, Matthias, Karmacharya, Shreya, Bonasera, Debora, Pasanen-Zentz, Arthur-Lauri, Kmoch, Stanislav, Paulsson, Mats, Wagener, Raimund, Liccardi, Gianmaria, Schiavinato, Alvise

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Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation von 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.

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Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies von Baresova, Veronika, Skopova, Vaclava, Souckova, Olga, Krijt, Matyas, Kmoch, Stanislav, Zikanova, Marie

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis von Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Barešová, Veronika, Ivánek, Robert, Hůlková, Helena, Jahnová, Helena, van der Zee, Julie, Staropoli, John F., Sims, Katherine B., Tyynelä, Jaana, Van Broeckhoven, Christine, Nijssen, Peter C.G., Mole, Sara E., Elleder, Milan, Kmoch, Stanislav

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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4 von Liskova, Petra, Dudakova, Lubica, Evans, Cerys J., Rojas Lopez, Karla E., Pontikos, Nikolas, Athanasiou, Dimitra, Jama, Hodan, Sach, Josef, Skalicka, Pavlina, Stranecky, Viktor, Kmoch, Stanislav, Thaung, Caroline, Filipec, Martin, Cheetham, Michael E., Davidson, Alice E., Tuft, Stephen J., Hardcastle, Alison J.

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

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POLRMT mutations impair mitochondrial transcription causing neurological disease von Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J., McBride, Kim L., Bowden, Sasigarn A., Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole, Prada, Carlos E., Õunap, Katrin, Wojcik, Monica H., Pajusalu, Sander, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B., Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M., Taylor, Robert W.

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PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome von Pelet, Anna, Skopova, Vaclava, Steuerwald, Ulrike, Baresova, Veronika, Zarhrate, Mohammed, Plaza, Jean-Marc, Hnizda, Ales, Krijt, Matyas, Souckova, Olga, Wibrand, Flemming, Andorsdóttir, Guðrið, Joensen, Fróði, Sedlak, David, Bleyer, Anthony J, Kmoch, Stanislav, Lyonnet, Stanislas, Zikanova, Marie

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A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis von Sikora, Jakub, Kmochová, Tereza, Mušálková, Dita, Pohludka, Michal, Přikryl, Petr, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Nosková, Lenka, Mrázová, Lenka, Stránecký, Viktor, Lunová, Mariia, Jirsa, Milan, Honsová, Eva, Dasari, Surendra, McPhail, Ellen D., Leung, Nelson, Živná, Martina, Bleyer, Anthony J., Rychlík, Ivan, Ryšavá, Romana, Kmoch, Stanislav

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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2 von Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Idigo, Nwamaka, Sasai, Noriaki, Maher, Geoffrey J., Bellingham, James, Veli, Neyme, Ebenezer, Neil D., Cheetham, Michael E., Daniels, Julie T., Thaung, Caroline M.H., Jirsova, Katerina, Plagnol, Vincent, Filipec, Martin, Kmoch, Stanislav, Tuft, Stephen J., Hardcastle, Alison J.

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes von Soukupova, Jana, Zemankova, Petra, Lhotova, Klara, Janatova, Marketa, Borecka, Marianna, Stolarova, Lenka, Lhota, Filip, Foretova, Lenka, Machackova, Eva, Stranecky, Viktor, Tavandzis, Spiros, Kleiblova, Petra, Vocka, Michal, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek

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Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease von 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

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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 von 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

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