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1.
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13 p, 1.6 MB |
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
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König, Jens Christian (Department of General Pediatrics, University Children's Hospital Münster) ;
Karsay, Rebeka (Department of General Pediatrics, University Children's Hospital Münster) ;
Gerß, Joachim (Institute of Biostatistics and Clinical Research, University of Münster) ;
Schlingmann, Karl-Peter (Department of General Pediatrics, University Children's Hospital Münster) ;
Dahmer-Heath, Mareike (Department of General Pediatrics, University Children's Hospital Münster) ;
Telgmann, Anna-Katharina (Department of General Pediatrics, University Children's Hospital Münster) ;
Kollmann, Sabine (Department of General Pediatrics, University Children's Hospital Münster) ;
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ;
Gillion, Valentine (Division of Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain) ;
Bockenhauer, Detlef (Great Ormond Street Hospital for Children (Londres)) ;
Bertholet-Thomas, Aurélia (Centre de Référence des Maladies Rénales Rares-Néphrogones-Hôpital Femme Mère Enfant, Hospices Civils de Lyon-Filière ORKiD) ;
Mastrangelo, Antonio (Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ca' Granda Ospedale Maggiore Policlinico) ;
Boyer, Olivia (Hôpital Necker-Enfants Malades, Université de Paris) ;
Lilien, Marc (Department of Pediatric Nephrology, University Medical Center Utrecht) ;
Decramer, Stéphane (Université Toulouse III Paul-Sabatier) ;
Schanstra, Joost. P. (Université Toulouse III Paul-Sabatier) ;
Pohl, Martin (Department of Pediatrics, University Hospital Freiburg) ;
Schild, Raphael (University Medical Center Hamburg-Eppendorf) ;
Weber, Stefanie (University Children's Hospital) ;
Hoefele, Julia (Institut für Humangenetik) ;
Drube, Jens (Departement of Pediatric Nephrology, Medical School Hannover) ;
Cetiner, Metin (Department of Pediatric Nephrology, University of Duisburg-Essen) ;
Hansen, Matthias (Clementine Kinderhospital) ;
Thumfart, Julia (Charité - Universitätsmedizin Berlin) ;
Tönshoff, Burkhard (Department of Pediatrics I, University Children's Hospital Heidelberg) ;
Habbig, Sandra (Department of Pediatric, University of Cologne) ;
Liebau, Max Christoph (University Hospital Cologne and Medical) ;
Bald, Martin (Children's Hospital (Alemanya)) ;
Bergmann, Carsten (Medizinische Genetik Mainz (Alemanya)) ;
Pennekamp, Petra (Department of General Pediatrics, University Children's Hospital Münster) ;
Konrad, Martin (Department of General Pediatrics, University Children's Hospital Münster) ;
Universitat Autònoma de Barcelona
Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function. [...]
2022 -  10.1016/j.ekir.2022.05.035
Kidney International Reports, Vol. 7 (june 2022) , p. 2016-2028
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2.
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16 p, 1.1 MB |
Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ;
Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ;
Halbritter, Jan (Charité - Universitätsmedizin Berlin) ;
Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ;
Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ;
Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ;
Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ;
Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ;
Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ;
Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ;
Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ;
Bockenhauer, Detlef (Department of Renal Medicine. University College London) ;
Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ;
Florez, Jose C. (Department of Medicine. Harvard Medical School) ;
Fowler, Kevin J. (The Voice of the Patient. Inc.) ;
Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ;
Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ;
Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ;
Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ;
Goldstein, David B. (Department of Genetics and Development. Columbia University) ;
Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ;
Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ;
Gross, Oliver (University Medical Center Göttingen) ;
Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ;
Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ;
Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ;
Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ;
Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ;
Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ;
Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ;
Lanktree, Matthew B. (Department of Medicine. McMaster University) ;
Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ;
Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ;
Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ;
Ojo, Akinlolu (University of Kansas School of Medicine) ;
Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ;
Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ;
Pei, York (Division of Nephrology. University Health Network) ;
Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ;
Rhee, Eugene P. (Massachusetts General Hospital) ;
Sanna-Cherchi, Simone (Columbia University) ;
Savige, Judy (The University of Melbourne) ;
Sayer, John (NIHR Newcastle Biomedical Research Centre) ;
Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ;
Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ;
Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ;
Somlo, Stefan (Yale University. Department of Genetics) ;
Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ;
Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ;
Weinstock, André (Alport Syndrome Foundation) ;
Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ;
Wuttke, Matthias (University of Freiburg) ;
Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ;
King, Jennifer M. (August Editorial) ;
Cheung, Michael (KDIGO) ;
Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ;
Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ;
Gharavi, Ali G. (Columbia University Irving Medical Center) ;
Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141
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3.
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13 p, 785.5 KB |
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome : an international cross-sectional study
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Verploegen, Maartje F A (Radboud University Medical Center) ;
Vargas-Poussou, Rosa (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ;
Walsh, Stephen B (University College London) ;
Alpay, Harika (Marmara University) ;
Amouzegar, Atefeh (Hospital Universitari Vall d'Hebron) ;
Ariceta Iraola, Gema (Iran University of Medical Sciences) ;
Atmis, Bahriye (Cukurova University Faculty of Medicine) ;
Bacchetta, Justine (University Children's Hospital (França)) ;
Bárány, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Baron, Stéphanie (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ;
Bayrakci, Umut Selda (Üniversiteler Mahallesi Bilkent Caddesi) ;
Belge, Hendrica (University of Groningen) ;
Besouw, Martine (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Paris) ;
Blanchard, Anne (Université de Paris) ;
Bökenkamp, Arend (Universiteit Amsterdam) ;
Boyer, Olivia (Paris University) ;
Burgmaier, Kathrin (University of Cologne) ;
Calò, Lorenzo A (University of Padova) ;
Decramer, Stéphane (Toulouse University Hospital) ;
Devuyst, Olivier (University of Zurich) ;
van Dyck, Maria (University Hospitals Leuven (Bèlgica)) ;
Ferraro, Pietro Manuel (Fondazione Policlinico Universitario A. Gemelli) ;
Fila, Marc (University Hospital of Montpellier (França)) ;
Francisco, Telma (Centro Hospitalar Universitário de Lisboa Central) ;
Ghiggeri, Gian Marco (Istituto Giannina Gaslini) ;
Gondra, Leire (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Guarino, Stefano (Università degli Studi della Campania 'Luigi Vanvitelli') ;
Hooman, Nakysa (Iran University of Medical Sciences) ;
Hoorn, Ewout J (University Medical Centre Rotterdam) ;
Houillier, Pascal (Hôpital Européen Georges Pompidou Assistance Publique Hôpitaux de Pari) ;
Kamperis, Konstantinos (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Kari, Jameela A (King Abdulaziz University) ;
Konrad, Martin (University Hospital of Münster (Alemanya)) ;
Levtchenko, Elena (University Hospitals Leuven (Bèlgica)) ;
Lucchetti, Laura (Bambino Gesù Children's Hospital) ;
Lugani, Francesca (Children's Hospital of Lucerne) ;
Marzuillo, Pierluigi (Università degli Studi della Campania 'Luigi Vanvitelli') ;
Mohidin, Barian (University College London) ;
Neuhaus, Thomas J (Children's Hospital of Lucerne) ;
Osman, Abdaldafae (Great Ormond Street Hospital for Children (Londres)) ;
Papizh, Svetlana (Pirogov Russian National Research Medical University) ;
Perelló, Manel (Hospital Universitari Vall d'Hebron) ;
Rookmaaker, Maarten B (University Medical Centre Utrecht) ;
Conti, Valerie Said (Mater Dei Hospital Malta) ;
Santos, Fernando (Universidad de Oviedo) ;
Sawaf, Ghalia (Damascus Hospital) ;
Serdaroglu, Erkin (Dr Behçet Uz Children's Hospital) ;
Szczepanska, Maria (SUM in Katowice) ;
Taroni, Francesca (Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico) ;
Topaloglu, Rezan (Hacettepe University School of Medicine) ;
Trepiccione, Francesco (University of Campania "L. Vanvitelli") ;
Vidal, Enrico (University of Udine) ;
Wan, Elizabeth R (Istanbul University) ;
Weber, Lutz (Uniklinik Köln (Colònia, Alemanya)) ;
Yildirim, Zeynep Yuruk (Istanbul University) ;
Yüksel, Selçuk (Pamukkale University School of Medicine) ;
Zlatanova, Galia (University Children's Hospital Medical University (Bulgària)) ;
Bockenhauer, Detlef (University College London) ;
Emma, Francesco (Bambino Gesù Children's Hospital) ;
Nijenhuis, Tom (Radboud University Medical Center) ;
Universitat Autònoma de Barcelona
Small cohort studies have reported high parathyroid hormone (PTH) levels in patients with Bartter syndrome and lower serum phosphate levels have anecdotally been reported in patients with Gitelman syndrome. [...]
2022 - 10.1093/ndt/gfac029
Nephrology Dialysis Transplantation, Vol. 37 (february 2022) , p. 2474-2486
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4.
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18 p, 2.6 MB |
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
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Xie, Jingyuan (Shanghai Jiao Tong University School of Medicine) ;
Liu, Lili (Columbia University) ;
Mladkova, Nikol (Columbia University) ;
Li, Yifu (Columbia University) ;
Ren, Hong (Shanghai Jiao Tong University School of Medicine) ;
Wang, Weiming (Shanghai Jiao Tong University School of Medicine) ;
Cui, Zhao (Key Laboratory of Renal Disease, Ministry of Health of China) ;
Lin, Li (Shanghai Jiao Tong University School of Medicine) ;
Hu, Xiaofan (Shanghai Jiao Tong University School of Medicine) ;
Yu, Xialian (Shanghai Jiao Tong University School of Medicine) ;
Xu, Jing (Shanghai Jiao Tong University School of Medicine) ;
Liu, Gang (Key Laboratory of CKD Prevention and Treatment, Ministry of Education of China) ;
Caliskan, Yasar (Istanbul University) ;
Sidore, Carlo (Istituto di Ricerca Genetica e Biomedica) ;
Balderes, Olivia (Columbia University) ;
Rosen, Raphael J. (Columbia University) ;
Bodria, Monica (University of Parma) ;
Zanoni, Francesca (Nephrology Dialysis and Kidney Transplant Unit) ;
Zhang, Jun Y. (Columbia University) ;
Krithivasan, Priya (Columbia University) ;
Mehl, Karla (Columbia University) ;
Marasa, Maddalena (Columbia University) ;
Khan, Atlas (Columbia University) ;
Ozay, Fatih (Columbia University) ;
Canetta, Pietro A. (Columbia University) ;
Bomback, Andrew S. (Columbia University) ;
Appel, Gerald B. (Columbia University) ;
Sanna-Cherchi, Simone (Columbia University) ;
Sampson, Matthew G. (University of Michigan School of Medicine) ;
Mariani, Laura H. (Arbor Research Collaborative for Health) ;
Perkowska-Ptasinska, Agnieszka (Medical University of Warsaw) ;
Durlik, Magdalena (Medical University of Warsaw) ;
Mucha, Krzysztof (Institute of Biochemistry and Biophysics) ;
Moszczuk, Barbara (Medical University of Warsaw) ;
Foroncewicz, Bartosz (Medical University of Warsaw) ;
Pączek, Leszek (Institute of Biochemistry and Biophysics) ;
Habura, Ireneusz (Department of Nephrology) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Mani, Laila-Yasmin (Bern University Hospital) ;
Vogt, Bruno (Bern University Hospital) ;
Ozturk, Savas (Nephrology Clinic) ;
Yildiz, Abdülmecit (Uludag University) ;
Arikan, Hakki (Marmara University School of Medicine) ;
Koc, Mehmet (Marmara University) ;
Basturk, Taner (Sisli Hamidiye Etfal Training and Research Hospital) ;
Karahan, Gonca (Istanbul University) ;
Akgul, Sebahat Usta (Istanbul University) ;
Sever, Mehmet Sukru (Istanbul University) ;
Zhang, Dan (Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine) ;
Santoro, Domenico (University of Messina) ;
Bonomini, Mario (University of Chieti-Pescara) ;
Londrino, Francesco (S. Andrea Hospital) ;
Gesualdo, Loreto (University of Bari) ;
Reiterova, Jana (Charles University) ;
Tesar, Vladimir (Charles University) ;
Izzi, Claudia (ASST Spedali Civili di Brescia) ;
Savoldi, Silvana (Unit of Nephrology and Dialysis ASL TO4, Cirié, Turin, Italy) ;
Spotti, Donatella (San Raffaele Hospital) ;
Marcantoni, Carmelita (Cannizzaro Hospital) ;
Messa, Piergiorgio (Università degli studi di Milano) ;
Galliani, Marco (Sandro Pertini Hospital) ;
Roccatello, Dario (University of Turin) ;
Granata, Simona (University of Verona) ;
Zaza, Gianluigi (University of Verona) ;
Lugani, Francesca (IRCCS Giannina Gaslini, Genoa, Italy) ;
Ghiggeri, GianMarco (IRCCS Giannina Gaslini, Genoa, Italy) ;
Pisani, Isabella (University of Parma) ;
Allegri, Landino (University of Parma) ;
Sprangers, Ben (University Hospitals Leuven (Bèlgica)) ;
Park, Jin-Ho (Seoul National University) ;
Cho, BeLong (Seoul National University College of Medicine) ;
Kim, Yon Su (Seoul National University College of Medicine) ;
Kim, Dong Ki (Seoul National University College of Medicine) ;
Suzuki, Hitoshi (Juntendo University) ;
Amoroso, Antonio (University of Torino) ;
Cattran, Daniel C. (University of Toronto) ;
Fervenza, Fernando C. (Mayo Clinic) ;
Pani, Antonello (G. Brotzu Hospital, Cagliari, Italy) ;
Hamilton, Patrick (Manchester University Hospitals NHS Trust) ;
Harris, Shelly (Manchester University Hospitals NHS Trust) ;
Gupta, Sanjana (University College London) ;
Cheshire, Chris (University College London) ;
Dufek, Stephanie (University College London) ;
Issler, Naomi (University College London) ;
Pepper, Ruth J. (University College London) ;
Connolly, John 1968- (University College London) ;
Powis, Stephen (University College London) ;
Bockenhauer, Detlef (University College London) ;
Stanescu, Horia C. (University College London) ;
Ashman, Neil (Royal London Hospital) ;
Loos, Ruth J. F. (Icahn School of Medicine at Mount Sinai) ;
Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ;
Wuttke, Matthias (University of Freiburg) ;
Eckardt, Kai-Uwe (Friedrich-Alexander-Universität) ;
Köttgen, Anna (University of Freiburg) ;
Hofstra, Julia M. (Radboud University Medical Center) ;
Coenen, Marieke J. H. (Radboud University Medical Centre) ;
Kiemeney, Lambertus A. (Radboud University Medical Center) ;
Akilesh, Shreeram (University of Washington) ;
Kretzler, Matthias (University of Michigan) ;
Beck, Lawrence H. (Boston University) ;
Stengel, Benedicte (University Paris-Sud) ;
Debiec, Hanna (Sorbonne Université) ;
Ronco, Pierre (Institut National de la Santé et de la Recherche Médicale) ;
Wetzels, Jack F. M. (Radboud University Medical Center) ;
Zoledziewska, Magdalena (Istituto di Ricerca Genetica e Biomedica) ;
Cucca, Francesco (Istituto di Ricerca Genetica e Biomedica) ;
Ionita-Laza, Iuliana (Columbia University) ;
Lee, Hajeong (Seoul National University College of Medicine) ;
Hoxha, Elion (University Medical Center Hamburg-Eppendorf) ;
Stahl, Rolf A. K. (University Medical Center Hamburg-Eppendorf) ;
Brenchley, Paul (University of Manchester) ;
Scolari, Francesco (University of Brescia) ;
Zhao, Ming-hui (Peking-Tsinghua Center for Life Sciences) ;
Gharavi, Ali (Columbia University) ;
Kleta, Robert (University College London) ;
Chen, Nan (Shanghai Jiao Tong University School of MedicinE) ;
Kiryluk, Krzysztof (Columbia University) ;
Universitat Autònoma de Barcelona
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. [...]
2020 - 10.1038/s41467-020-15383-w
Nature communications, Vol. 11 (march 2020)
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