Article
Multidisciplinary Sciences
Kunjing Gong, Min Xia, Yaqin Wang, Na Wang, Ying Liu, Victor Wei Zhang, Hong Cheng, Yuqing Chen
Summary: Genes UMOD, HNF1B, MUC1, REN, and SEC61A1 are associated with autosomal dominant tubulointerstitial kidney disease (ADTKD). A study of 48 probands and their family members revealed potential associations between genotype and outcomes, with UMOD gene cysteine substitutions showing a better prognosis. Follow-up data suggested suspected ADTKD individuals had a better prognosis compared to ADTKD individuals.
SCIENTIFIC REPORTS
(2021)
Review
Medicine, General & Internal
Raisa Thielemans, Reinhart Speeckaert, Charlotte Delrue, Sander De Bruyne, Matthijs Oyaert, Marijn M. Speeckaert
Summary: Uromodulin, also known as Tamm-Horsfall protein, is the predominant urinary protein in healthy individuals. It has been found to be associated with various parameters such as kidney function, graft survival, cardiovascular disease, glucose metabolism, and overall mortality. Reduced levels of urinary uromodulin have been linked to an increased risk of acute kidney injury (AKI) and decreased levels of urinary uromodulin are strongly correlated with variations in estimated glomerular filtration rate in chronic kidney disease (CKD). Serum levels of uromodulin, due to leakage in the thick ascending limb, are closely associated with kidney function and disease severity. The UMOD gene has been identified as being linked to kidney function parameters, CKD risk, hypertension, and kidney stones. Uromodulin holds great promise as a biomarker for understanding kidney function and disease progression.
Article
Urology & Nephrology
Christina B. Joseph, Marta Mariniello, Ayumi Yoshifuji, Guglielmo Schiano, Jennifer Lake, Jonathan Marten, Anne Richmond, Jennifer E. Huffman, Archie Campbell, Sarah E. Harris, Stephan Troyanov, Massimiliano Cocca, Antonietta Robino, Sebastien Theriault, Kai-Uwe Eckardt, Matthias Wuttke, Yurong Cheng, Tanguy Corre, Ivana Kolcic, Corrinda Black, Vanessa Bruat, Maria Pina Concas, Cinzia Sala, Stefanie Aeschbacher, Franz Schaefer, Sven Bergmann, Harry Campbell, Matthias Olden, Ozren Polasek, David J. Porteous, Ian J. Deary, Francois Madore, Philip Awadalla, Giorgia Girotto, Sheila Ulivi, David Conen, Elke Wuehl, Eric Olinger, James F. Wilson, Murielle Bochud, Anna Koettgen, Caroline Hayward, Olivier Devuyst
Summary: This study identifies novel gene loci, KRT40 and WDR72, associated with urinary uromodulin. Functional studies show that KRT40 affects the processing and excretion of uromodulin in kidney cells. This research provides new insights into the biology of uromodulin, keratins, and the UMOD-PDILT locus's influence on kidney function.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Physiology
Kaice A. LaFavers, Chadi A. Hage, Varun Gaur, Radmila Micanovic, Takashi Hato, Shehnaz Khan, Seth Winfree, Simit Doshi, Ranjani N. Moorthi, Homer Twigg, Xue-Ru Wu, Pierre C. Dagher, Edward F. Srour, Tarek M. El-Achkar
Summary: The kidney modulates the immune response in sepsis by enhancing mononuclear phagocyte function through the release of Tamm-Horsfall protein, suggesting potential therapeutic applications in sepsis.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2022)
Article
Medicine, General & Internal
Stephan Kemmner, Christopher Holzmann-Littig, Helene Sandberger, Quirin Bachmann, Flora Haberfellner, Carlos Torrez, Christoph Schmaderer, Uwe Heemann, Lutz Renders, Volker Assfalg, Tarek M. El-Achkar, Pranav S. Garimella, Juergen Scherberich, Dominik Steubl
Summary: Higher pretransplant serum uromodulin (sUMOD) levels were independently associated with lower odds of delayed graft function (DGF) following kidney transplantation, potentially serving as a non-invasive marker for stratifying patients based on their risk for developing DGF early on.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Chemistry, Analytical
Tianhai Lin, Zhuo Chen, Mengqi Luo, Yang Zhao, Wenjuan Zeng, Shanshan Zheng, Tao Su, Yi Zhong, Shisheng Wang, Youmei Jin, Liqiang Hu, Wanjun Zhao, Jiaxu Li, Xuanyi Wang, Changwei Wu, Dapeng Li, Fang Liu, Guisen Li, Hao Yang, Yong Zhang
Summary: This study developed a simple and fast method for isolating Umod and analyzed its N-glycosylation using mass spectrometry. A total of 780 unique intact N-glycopeptides were identified in healthy individuals, revealing alterations in N-glycosylation of Umod in IgA nephropathy patients. This research provides a high-throughput workflow for understanding the roles of Umod in physiology and pathology, and as a potential diagnostic tool for renal tubular function evolution.
Article
Biochemistry & Molecular Biology
Huan-Da Chen, Chih-Chuan Yu, I-Hsiao Yang, Chi-Chih Hung, Mei-Chuan Kuo, Der-Cherng Tarng, Jer-Ming Chang, Daw-Yang Hwang
Summary: This study reveals the significance of ADTKD-UMOD as a cause of chronic kidney disease in the Taiwanese population, identifying two previously unreported UMOD missense variants.
Review
Physiology
Celine Schaeffer, Olivier Devuyst, Luca Rampoldi
Summary: Uromodulin, a kidney-specific protein, plays crucial roles in kidney physiology and overall health, with its genetic mutations causing renal disease and common polymorphisms associated with various disorders such as chronic kidney disease, hypertension, and cardiovascular diseases. Variations in uromodulin levels in urine and blood can serve as prognostic markers for kidney function, cardiovascular events, and mortality.
ANNUAL REVIEW OF PHYSIOLOGY, VOL 83
(2021)
Article
Physiology
Radmila Micanovic, Kaice A. LaFavers, Kavish R. Patidar, Marwan S. Ghabril, Emma H. Doud, Amber L. Mosley, Angela R. Sabo, Shehnaz Khan, Tarek M. El-Achkar
Summary: In this study, a novel form of nonpolymerizing uromodulin was discovered and characterized, which retains an external hydrophobic patch at the COOH-terminus. These findings reveal an alternative form of cellular processing of this protein and shed light on new aspects of its biology. It is also suggested that measuring urinary nonpolymerizing uromodulin could be a promising assay to assess the risk of acute kidney injury.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2022)
Article
Urology & Nephrology
Shohei Tachibana, Masayuki Iyoda, Taihei Suzuki, Nobuhiro Kanazawa, Hirokazu Honda
Summary: In this study, the clinical significance of serum UMOD (sUMOD) in IgA nephropathy (IgAN) was clarified. Low sUMOD levels were found to be associated with worsening renal function, especially in the early stage of IgAN.
AMERICAN JOURNAL OF NEPHROLOGY
(2022)
Article
Biochemical Research Methods
Chen Xu, Yiqun Li, Zidong Xiao, Jie Yang, Mingyang Xue, Nan Jiang, Yan Meng, Wenzhi Liu, Yuding Fan, Yong Zhou
Summary: In European traditional phytotherapy, extracts from different herbal plants are used for prevention and therapy of urinary tract infections and kidney stones. This study evaluated the THP-inducing activity of various plant extracts in human urine samples and found that one specific extract from Equisetum arvense significantly increased the concentration of THP in urine and exhibited antibacterial activity against uropathogenic E. coli.
JOURNAL OF PROTEOME RESEARCH
(2022)
Article
Cell Biology
Vanessa L. Correll, Joseph J. Otto, Cristina M. Risi, Brian P. Main, Paul C. Boutros, Thomas Kislinger, Vitold E. Galkin, Julius O. Nyalwidhe, O. John Semmes, Lifang Yang
Summary: Isolation and analysis of extracellular vesicles (EVs) from urine samples is a common strategy for studying vesicle biology and biomarker discovery. However, standard EV isolation methods often co-isolate protein contaminants and high levels of uromodulin (THP) in urine can reduce EV yield. In this study, a modified isolation method was developed to improve EV isolation and enrich prostate cancer-associated EV-resident proteins.
JOURNAL OF EXTRACELLULAR VESICLES
(2022)
Article
Multidisciplinary Sciences
Eric Olinger, Celine Schaeffer, Kendrah Kidd, Elhussein A. E. Elhassan, Yurong Cheng, Ines Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian J. Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai-Uwe Eckardt, Anthony J. Bleyer, Anna Koettgen, Peter J. Conlon, Michael Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst
Summary: The identification of an intermediate-effect UMOD variant reveals its contribution to CKD and provides new insights into the genetic architecture of CKD.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Medicine, General & Internal
Babak Yazdani, Graciela E. Delgado, Hubert Scharnagl, Bernhard K. Kraemer, Heinz Drexel, Winfried Maerz, Juergen E. Scherberich, Andreas Leiherer, Marcus E. Kleber
Summary: Serum uromodulin is directly correlated with eGFR in patients with kidney function impairment and inversely associated with mortality. Discordance between the two markers can impact mortality risk, highlighting the importance of assessing both for more precise risk modeling.
FRONTIERS IN MEDICINE
(2021)
Review
Peripheral Vascular Disease
Kaice A. LaFavers, Radmila Micanovic, Angela R. Sabo, Lauren A. Maghak, Tarek M. El-Achkar
Summary: Uromodulin, a glycoprotein produced in the kidney, plays an important role in maintaining renal and systemic homeostasis. Its functions are involved in various kidney diseases and functionally related to distant organs. This review discusses recent advances in understanding its biology and the different forms it can take, as well as its production, release, and role in hypertension, acute kidney injury, chronic disease progression, immunomodulation, and oxidative stress regulation.
Article
Clinical Neurology
Samuel F. Berkovic, John F. Staropoli, Stirling Carpenter, Karen L. Oliver, Stanislav Kmoch, Glenn W. Anderson, John A. Damiano, Michael S. Hildebrand, Katherine B. Sims, Susan L. Cotman, Melanie Bahlo, Katherine R. Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E. Mole
Article
Pharmacology & Pharmacy
Magdalena Neroldova, Viktor Stranecky, Katerina Hodanova, Hana Hartmannova, Lenka Piherova, Anna Pristoupilova, Lenka Mrazova, Michal Vrablik, Vera Adamkova, Jaroslav A. Hubacek, Milan Jirsa, Stanislav Kmoch
Article
Urology & Nephrology
Martina Zivna, Kendrah Kidd, Anna Pristoupilova, Veronika Baresova, Mathew DeFelice, Brendan Blumenstiel, Maegan Harden, Peter Conlon, Peter Lavin, Dervla M. Connaughton, Hana Hartmannova, Katerina Hodanova, Viktor Stranecky, Alena Vrbacka, Petr Vylet'al, Jan Zivny, Miroslav Votruba, Jana Sovova, Helena Hulkova, Victoria Robins, Rebecca Perry, Andrea Wenzel, Bodo B. Beck, Tomas Seeman, Ondrej Viklicky, Sylvie Rajnochova-Bloudickova, Gregory Papagregoriou, Constantinos C. Deltas, Seth L. Alper, Anna Greka, Anthony J. Bleyer, Stanislav Kmoch
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2018)
Article
Genetics & Heredity
Anthony J. Bleyer, Kendrah Kidd, Victoria Robins, Lauren Martin, Abbigail Taylor, Annie Santi, Georgeanna Tsoumas, Alese Hunt, Elizabeth Swain, Marwan Abbas, Ebun Akinbola, Sri Vidya, Shahriar Moossavi, Anthony J. Bleyer, Martina Zivna, Hana Hartmannova, Katerina Hodanova, Petr Vylet'al, Miroslav Votruba, Maegan Harden, Brendan Blumenstiel, Anna Greka, Stanislav Kmoch
GENETICS IN MEDICINE
(2020)
Article
Urology & Nephrology
Anthony J. Bleyer, Kendrah Kidd, Emily Johnson, Victoria Robins, Lauren Martin, Abbigail Taylor, Alexander J. Pinder, Isai Bowline, Vera Frankova, Martina Zivna, Kate B. Taylor, Nathan Kim, Janet J. Baek, Hana Hartmannova, Katerina Hodanova, Petr Vylet'al, Miroslav Votruba, Stanislav Kmoch
CLINICAL NEPHROLOGY
(2019)
Article
Biochemistry & Molecular Biology
Anna Pelet, Vaclava Skopova, Ulrike Steuerwald, Veronika Baresov, Mohammed Zarhrate, Jean-Marc Plaza, Ales Hnizda, Matyas Krijt, Olga Souckova, Flemming Wibrand, Guorio Andorsdottir, Frooi Joensen, David Sedlak, Anthony Bleyer, Stanislav Kmoch, Stanislas Lyonnet, Marie Zikanov
HUMAN MOLECULAR GENETICS
(2019)
Article
Biochemistry & Molecular Biology
Ivana Jedlickova, Maxime Cadieux-Dion, Anna Pristoupilova, Viktor Stranecky, Hana Hartmannova, Katerina Hodanova, Veronika Baresova, Helena Hulkova, Jakub Sikora, Lenka Noskova, Dita Musalkova, Petr Vyletal, Jana Sovova, Patrick Cossette, Eva Andermann, Frederick Andermann, Stanislav Kmoch
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Urology & Nephrology
Martina Zivna, Kendrah Kidd, Mohamad Zaidan, Petr Vyletal, Veronika Baresova, Katerina Hodanova, Jana Sovova, Hana Hartmannova, Miroslav Votruba, Helena Treslova, Ivana Jedlickova, Jakub Sikora, Helena Hulkova, Victoria Robins, Ales Hnizda, Jan Zivny, Gregory Papagregoriou, Laurent Mesnard, Bodo B. Beck, Andrea Wenzel, Kalman Tory, Karsten Haeeffner, Matthias T. F. Wolf, Michael E. Bleyer, John A. Sayer, Albert C. M. Ong, Lidia Balogh, Anna Jakubowska, Agnieszka Laszkiewicz, Rhian Clissold, Charles Shaw-Smith, Raj Munshi, Robert M. Haws, Claudia Izzi, Irene Capelli, Marisa Santostefano, Claudio Graziano, Francesco Scolari, Amy Sussman, Howard Trachtman, Stephane Decramer, Marie Matignon, Philippe Grimbert, Lawrence R. Shoemaker, Christoforos Stavrou, Mayssa Abdelwahed, Neila Belghith, Matthew Sinclair, Kathleen Claes, Tal Kopel, Sharon Moe, Constantinos Deltas, Bertrand Knebelmann, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
KIDNEY INTERNATIONAL
(2020)
Article
Urology & Nephrology
Kendrah Kidd, Petr Vylet'al, Celine Schaeffer, Eric Olinger, Martina Zivna, Katerina Hodanova, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacka, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
KIDNEY INTERNATIONAL REPORTS
(2020)
Meeting Abstract
Transplantation
Martina Zivna, Petr Vylet'al, Veronika Baresova, Katerina Hodanova, Viktor Stranecky, Hana Hartmannova, Helena Hulkova, Ivana Jedlickova, Jana Sovova, Kendrah Kidd, Anthony J. Bleyer, Stanislav Kmoch
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2019)
Article
Urology & Nephrology
Anthony J. Bleyer, Kendrah Kidd, Martina Zivna, Stanislav Kmoch
ADVANCES IN CHRONIC KIDNEY DISEASE
(2017)
Meeting Abstract
Ophthalmology
Alice E. Davidson, Petra Liskova, Cerys J. Evans, Lubica Dudakova, Lenka Noskova, Nikolas Pontikos, Vincent Plagonl, Martin Filipec, Stanislav Kmoch, Stephen J. Tuft, Alison J. Hardcastle
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2016)
Meeting Abstract
Cardiac & Cardiovascular Systems
M. Kubanek, A. Krebsova, L. Piherova, V. Stranecky, M. Macek, J. Paderova, T. Palecek, V. Melenovsky, S. Kmoch, J. Kautzner
EUROPEAN HEART JOURNAL
(2016)
Meeting Abstract
Cardiac & Cardiovascular Systems
M. Milos Kubanek, A. Krebsova, L. Piherova, S. Kmoch, M. Macek, T. Palecek, V. Stara, V. Melenovsky, J. Sikora, J. Kautzner
EUROPEAN JOURNAL OF HEART FAILURE
(2016)