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

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

Adenylosuccinate lyase deficiency

por Jurecka, Agnieszka, Zikanova, Marie, Kmoch, Stanislav, Tylki-Szymańska, Anna
Publicado 2014

Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies

por Baresova, Veronika, Skopova, Vaclava, Souckova, Olga, Krijt, Matyas, Kmoch, Stanislav, Zikanova, Marie
Publicado 2018

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

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

por Nosková, Lenka, Fukata, Yuko, Stránecký, Viktor, Šaligová, Jana, Bodnárová, Oxana, Giertlová, Mária, Fukata, Masaki, Kmoch, Stanislav
Publicado 2023

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

por Nakajima, Kazuo, Miranda, Alannah, Craig, David W., Shekhtman, Tatyana, Kmoch, Stanislav, Bleyer, Anthony, Szelinger, Szabolcs, Kato, Tadafumi, Kelsoe, John R.
Publicado 2020

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

por Dudakova, Lubica, Stranecky, Viktor, Piherova, Lenka, Palecek, Tomas, Pontikos, Nikolas, Kmoch, Stanislav, Skalicka, Pavlina, Vaneckova, Manuela, Davidson, Alice E., Liskova, Petra
Publicado 2021

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

por Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav
Publicado 2020

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

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

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

por 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
Publicado 2018

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

por Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G., Pengelly, Reuben J., Gale, Daniel P., Connor, Thomas M., Bunyan, David J., Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G.
Publicado 2018

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

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F(1)F(o )ATP synt...

por Čížková, Alena, Stránecký, Viktor, Ivánek, Robert, Hartmannová, Hana, Nosková, Lenka, Piherová, Lenka, Tesařová, Markéta, Hansíková, Hana, Honzík, Tomáš, Zeman, Jiří, Divina, Petr, Potocká, Andrea, Paul, Jan, Sperl, Wolfgang, Mayr, Johannes A, Seneca, Sara, Houštĕk, Josef, Kmoch, Stanislav
Publicado 2008

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

Influence of glycoprotein MUC1 on trafficking of the Ca(2+)-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis

por Al-bataineh, Mohammad M., Kinlough, Carol L., Marciszyn, Allison, Lam, Tracey, Ye, Lorena, Kidd, Kendrah, Maggiore, Joseph C., Poland, Paul A., Kmoch, Stanislav, Bleyer, Anthony, Bain, Daniel J., Montalbetti, Nicolas, Kleyman, Thomas R., Hughey, Rebecca P., Ray, Evan C.
Publicado 2023

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

por 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.
Publicado 2018

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