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58 results for Kmoch,+Stanislav

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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
Author / Creator: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
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2015-10, Vol.88 (4), p.676-683
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Autosomal dominant tubulointerstitial kidney disease
Author / Creator:Devuyst, Olivier ; Olinger, Eric ; Weber, Stefanie ; Eckardt, Kai-Uwe ; Kmoch, Stanislav ; Rampoldi, Luca ; Bleyer, Anthony J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2019-09, Vol.5 (1), p.60-60, Article 60
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Adenylosuccinate lyase deficiency
Author / Creator:Jurecka, Agnieszka ; Zikanova, Marie ; Kmoch, Stanislav ; Tylki-Szymańska, Anna
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.231-242
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ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder
Author / Creator:Przyklenk, Matthias ; Karmacharya, Shreya ; Bonasera, Debora ; Pasanen-Zentz, Arthur-Lauri ; Kmoch, Stanislav ; Paulsson, Mats ; Wagener, Raimund ; Liccardi, Gianmaria ; Schiavinato, Alvise
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-04, Vol.14 (1), p.9321-9321, Article 9321
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Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β
Author / Creator:Bleyer, Anthony J. ; Wolf, Matthias T. ; Kidd, Kendrah O. ; Zivna, Martina ; Kmoch, Stanislav
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2022-05, Vol.37 (5), p.933-946
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MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-10, Vol.14 (1), p.6493-6493, Article 6493
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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
Author / Creator:Nakajima, Kazuo ; Miranda, Alannah ; Craig, David W. ; Shekhtman, Tatyana ; Kmoch, Stanislav ; Bleyer, Anthony ; Szelinger, Szabolcs ; Kato, Tadafumi ; Kelsoe, John R.
Publisher:London: Nature Publishing Group UK
Journal title:Translational psychiatry, 2020-11, Vol.10 (1), p.407-407, Article 407
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Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies
Author / Creator:Baresova, Veronika ; Skopova, Vaclava ; Souckova, Olga ; Krijt, Matyas ; Kmoch, Stanislav ; Zikanova, Marie
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-07, Vol.13 (7), p.e0201432-e0201432
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Trends in SARS-CoV-2 cycle threshold values in the Czech Republic from April 2020 to April 2022
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-04, Vol.13 (1), p.6156-6156, Article 6156
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Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
Author / Creator:Neřoldová, Magdaléna ; Ciara, Elżbieta ; Slatinská, Janka ; Fraňková, Soňa ; Lišková, Petra ; Kotalová, Radana ; Globinovská, Janka ; Šafaříková, Markéta ; Pfeiferová, Lucie ; Zůnová, Hana ; Mrázová, Lenka ; Stránecký, Viktor ; Vrbacká, Alena ; Fabián, Ondřej ; Sticová, Eva ; Skanderová, Daniela ; Šperl, Jan ; Kalousová, Marta ; Zima, Tomáš ; Macek, Milan ; Pawlowska, Joanna ; Knisely, A S ; Kmoch, Stanislav ; Jirsa, Milan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2025-01, Vol.20 (1), p.e0318705
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POLRMT mutations impair mitochondrial transcription causing neurological disease
Author / Creator: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.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-02, Vol.12 (1), p.1135-13, Article 1135
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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-04, Vol.13 (4), p.e0195761-e0195761
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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
Author / Creator:Neřoldová, Magdaléna ; Ciara, Elżbieta ; Slatinská, Janka ; Fraňková, Soňa ; Lišková, Petra ; Kotalová, Radana ; Globinovská, Janka ; Šafaříková, Markéta ; Pfeiferová, Lucie ; Zůnová, Hana ; Mrázová, Lenka ; Stránecký, Viktor ; Vrbacká, Alena ; Fabián, Ondřej ; Sticová, Eva ; Skanderová, Daniela ; Šperl, Jan ; Kalousová, Marta ; Zima, Tomáš ; Macek, Milan ; Pawlowska, Joanna ; Knisely, A S ; Kmoch, Stanislav ; Jirsa, Milan
Publisher:United States: Public Library of Science
Journal title:PloS one, 2023-07, Vol.18 (7), p.e0288907-e0288907
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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.783-789
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Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds
Author / Creator:Souckova, Olga ; Skopova, Vaclava ; Baresova, Veronika ; Sedlak, David ; Bleyer, Anthony J ; Kmoch, Stanislav ; Zikanova, Marie
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2022-12, Vol.12 (12), p.1210
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy
Author / Creator:Čížková, Alena ; Stránecký, Viktor ; Mayr, Johannes A ; Tesařová, Markéta ; Havlíčková, Vendula ; Paul, Jan ; Ivánek, Robert ; Kuss, Andreas W ; Hansíková, Hana ; Kaplanová, Vilma ; Vrbacký, Marek ; Hartmannová, Hana ; Nosková, Lenka ; Honzík, Tomáš ; Drahota, Zdeněk ; Magner, Martin ; Hejzlarová, Kateřina ; Sperl, Wolfgang ; Zeman, Jiří ; Houštěk, Josef ; Kmoch, Stanislav
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-11, Vol.40 (11), p.1288-1290
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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:BMC nephrology, 2018-10, Vol.19 (1), p.301-301, Article 301
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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study
Author / Creator:Kidd, Kendrah O ; Williams, Adrienne H ; Taylor, Abbigail ; Martin, Lauren ; Robins, Victoria ; Sayer, John A ; Olinger, Eric ; Mabillard, Holly R ; Papagregoriou, Gregory ; Deltas, Constantinos ; Stavrou, Christoforos ; Conlon, Peter J ; Hogan, Richard Edmund ; Elhassan, Elhussein A E ; Springer, Drahomíra ; Zima, Tomáš ; Izzi, Claudia ; Vrbacká, Alena ; Piherová, Lenka ; Pohludka, Michal ; Radina, Martin ; Vylet'al, Petr ; Hodanova, Katerina ; Zivna, Martina ; Kmoch, Stanislav ; Bleyer, Sr, Anthony J
Publisher:England: BioMed Central Ltd
Journal title:BMC nephrology, 2024-12, Vol.25 (1), p.449-10, Article 449
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Uromodulin Biology and Pathophysiology - An Update
Author / Creator:Vyletal, Petr ; Bleyer, Anthony J ; Kmoch, Stanislav
Publisher:Basel: S. Karger AG
Journal title:Kidney & blood pressure research, 2010-01, Vol.33 (6), p.456
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Genotype is associated with left ventricular reverse remodelling and early events in recent‐onset dilated cardiomyopathy
Author / Creator:Kubanek, Milos ; Binova, Jana ; Piherova, Lenka ; Krebsova, Alice ; Kotrc, Martin ; Hartmannova, Hana ; Hodanova, Katerina ; Musalkova, Dita ; Stranecky, Viktor ; Palecek, Tomas ; Chaloupka, Anna ; Grochova, Ilga ; Krejci, Jan ; Petrkova, Jana ; Melenovsky, Vojtech ; Kmoch, Stanislav ; Kautzner, Josef
Publisher:England: John Wiley & Sons, Inc
Journal title:ESC Heart Failure, 2024-12, Vol.11 (6), p.4127-4138
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Showing 1 to 20 of 58 results

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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

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Autosomal dominant tubulointerstitial kidney disease

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Adenylosuccinate lyase deficiency

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ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder

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Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β

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

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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

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

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

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Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

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POLRMT mutations impair mitochondrial transcription causing neurological disease

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

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

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Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

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

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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study

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Uromodulin Biology and Pathophysiology - An Update

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Genotype is associated with left ventricular reverse remodelling and early events in recent‐onset dilated cardiomyopathy

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