Not logged in Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases Weng, Wen-Chin; Skopova, Vaclava; Baresova, Veronika; Liu, Yao-Lin; Hsueh, Hsueh-Wen; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Souckova, Olga; Hnizda, Ales; Kmoch, Stanislav; Lee, Ni-Chung; Zikanova, Marie Share Save
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Elhassan, Elhussein A. E.; Kmochova, Tereza; Benson, Katherine A.; Fennelly, Neil K.; Baresova, Veronika; Kidd, Kendrah; Doyle, Brendan; Dorman, Anthony; Morrin, Martina M.; Kyne, Niamh C.; Vyletal, Petr; Hartmannova, Hana; Hodanova, Katerina; Sovova, Jana; Musalkova, Dita; Vrbacka, Alena; Pristoupilova, Anna; Zivny, Jan; Svojsova, Klara; Radina, Martin; Stranecky, Viktor; Loginov, Dmitry; Pompach, Petr; Novak, Petr; Vanickova, Zdislava; Hansikova, Hana; Rajnochova-Bloudickova, Silvie; Viklicky, Ondrej; Hulkova, Helena; Cavalleri, Gianpiero L.; Hnizda, Ales; Bleyer, Anthony J.; Kmoch, Stanislav; Conlon, Peter J.; Zivna, Martina Share Save
Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis Kmochova, Tereza; Kidd, Kendrah O.; Orr, Andrew; Hnizda, Ales; Hartmannova, Hana; Hodanova, Kate ina; Vyletal, Petr; Nausova, Karolina; Brinsa, Vitezslav; Treslova, Helena; Sovova, Jana; Baresova, Veronika; Svojsova, Klara; Vrbacka, Alena; Stranecky, 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; Hulkova, Helena; Pompach, Petr; Novak, Petr; Weinberg, Richard B.; Bedard, Karen; Zivna, Martina; Sikora, Jakub; Bleyer Sr, Anthony J.; Kmoch, Stanislav Share Save
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; Baresova, Veronika; Hodanova, Katerina; Hnizda, Ales; Moldovan, Oana; Silveira, Catarina; Coutinho, Ana Margarida; Lopes, Jose Antonio; Bleyer, Anthony J.; Kmoch, Stanislav; Zivna, Martina Share Save
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SAP domain forms a flexible part of DNA aperture in Ku70/80 Hnizda, Ales; Tesina, Petr; Nguyen, Thanh-Binh; Kukacka, Zdenek; Kater, Lukas; Chaplin, Amanda; Beckmann, Roland; Ascher, David B.; Novak, Petr; Blundell, Tom L. Share Save
Mechanism of efficient double-strand break repair by a long non-coding RNA (vol 48, pg 10953, 2020) Thapar, Roopa; Wang, Jing L.; Hammel, Michal; Ye, Ruiqiong; Liang, Ke; Sun, Chengcao; Hnizda, Ales; Liang, Shikang; Maw, Su S.; Lee, Linda; Villarreal, Heather; Forrester, Isaac; Fang, Shujuan; Tsai, Miaw-Sheue; Blundell, Tom L.; Davis, Anthony J.; Lin, Chunru; Lees-Miller, Susan P.; Strick, Terence R.; Tainer, John A. Share Save
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes Zivna, Martina; Kidd, Kendrah; Zaidan, Mohamad; Vyletal, Petr; Baresova, Veronika; Hodanova, Katerina; Sovova, Jana; Hartmannova, Hana; Votruba, Miroslav; Treslova, Helena; Jedlickova, Ivana; Sikora, Jakub; Hulkova, Helena; Robins, Victoria; Hnizda, Ales; Zivny, Jan; Papagregoriou, Gregory; Mesnard, Laurent; Beck, Bodo B.; Wenzel, Andrea; Tory, Kalman; Haeeffner, Karsten; Wolf, Matthias T. F.; Bleyer, Michael E.; Sayer, John A.; Ong, Albert C. M.; Balogh, Lidia; Jakubowska, Anna; Laszkiewicz, 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. Share Save
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Mechanism of efficient double-strand break repair by a long non-coding RNA Thapar, Roopa; Wang, Jing L.; Hammel, Michal; Ye, Ruiqiong; Liang, Ke; Sun, Chengcao; Hnizda, Ales; Liang, Shikang; Maw, Su S.; Lee, Linda; Villarreal, Heather; Forrester, Isaac; Fang, Shujuan; Tsai, Miaw-Sheue; Blundell, Tom L.; Davis, Anthony J.; Lin, Chunru; Lees-Miller, Susan P.; Strick, Terence R.; Tainer, John A. Share Save
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome Pelet, Anna; Skopova, Vaclava; Steuerwald, Ulrike; Baresov, Veronika; Zarhrate, Mohammed; Plaza, Jean-Marc; Hnizda, Ales; Krijt, Matyas; Souckova, Olga; Wibrand, Flemming; Andorsdottir, Guorio; Joensen, Frooi; Sedlak, David; Bleyer, Anthony; Kmoch, Stanislav; Lyonnet, Stanislas; Zikanov, Marie Share Save
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Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection Bai, Meirong; Vozdek, Roman; Hnizda, Ales; Jiang, Chenxiao; Wang, Bingying; Kuchar, Ladislav; Li, Tiejun; Zhang, Yuefan; Wood, Chase; Feng, Liang; Dang, Yongjun; Ma, Dengke K. Share Save
Relapsed acute lymphoblastic leukemia-specific mutations in NT5C2 cluster into hotspots driving intersubunit stimulation Hnizda, Ales; Fabry, Milan; Moriyama, Takaya; Pachl, Petr; Kugler, Michael; Brinsa, Vitezslav; Ascher, David B.; Carroll, William L.; Novak, Petr; Zaliova, Marketa; Trka, Jan; Rezacova, Pavlina; Yang, Jun J.; Veverka, Vaclav Share Save
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia Bolar, Nikhita Ajit; Golzio, Christelle; Zivna, Martina; Hayot, Gaelle; 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; Pristoupilova, Anna; Hodanova, Katerina; Vylet'al, Petr; Hartmannova, Hana; Stranecky, Viktor; Hulkova, Helena; Baresova, Veronika; Jedlickova, Ivana; Sovova, Jana; Hnizda, Ales; 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. Share Save
Structural Basis for Inhibition of Mycobacterial and Human Adenosine Kinase by 7-Substituted 7-(Het)aryl-7-deazaadenine Ribonucleosides Snasel, Jan; Naus, Petr; Dostal, Jiri; Hnizda, Ales; Fanfrlik, Jindrich; Brynda, Jiri; Bourderioux, Aurelie; Dusek, Michal; Dvorakova, Hana; Stolarikova, Jirina; Zabranska, Helena; Pohl, Radek; Konecny, Petr; Dzubak, Petr; Votruba, Ivan; Hajduch, Marian; Rezacova, Pavlina; Veverka, Vaclav; Hocek, Michal; Pichova, Iva Share Save
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Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency Vliet, Lydia K.; Wilkinson, Terry G., II; Duval, Nathan; Vacano, Guido; Graham, Christine; Zikanova, Marie; Skopova, Vaclava; Baresova, Veronika; Hnizda, Ales; Kmoch, Stanislav; Patterson, David Share Save
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