A novel mouse model recapitulates the effects of rs2254524 variant in the lanosterol synthase gene on salt sensitivity and organ damage.

Autor: Faienza S; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele.; Università Vita-Salute San Raffaele., Citterio L; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele., Messaggio E; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele., Zagato L; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele., Lanzani C; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele.; Università Vita-Salute San Raffaele., Simonini M; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele., Canciani B; IRCCS Ospedale Galeazzi-Sant'Ambrogio, Milan, Italy., Sanvito F; Pathology Unit, Department of Experimental Oncology, IRCCS Ospedale San Raffaele., Rampoldi L; Università Vita-Salute San Raffaele.; Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy., Pavlovic D; Institute of Cardiovascular Sciences, University of Birmingham, Edgbaston, Wolfson Drive, Birmingham, UK., Manunta P; Genomics of Renal Diseases and Hypertension Unit, IRCCS Ospedale San Raffaele.; Università Vita-Salute San Raffaele.

Publikováno v: Journal of hypertension [J Hypertens] 2024 Aug 20. Date of Electronic Publication: 2024 Aug 20.

Mechanistic interactions of uromodulin with the thick ascending limb: perspectives in physiology and hypertension.

Autor: Boder P; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom., Mary S; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom., Mark PB; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom., Leiper J; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom., Dominiczak AF; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom., Padmanabhan S; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom., Rampoldi L; Molecular Genetics of Renal Disorders Unit, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Delles C; BHF Glasgow Cardiovascular Research Centre, Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom.

Publikováno v: Journal of hypertension [J Hypertens] 2021 Aug 01; Vol. 39 (8), pp. 1490-1504.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

Autor: Olinger, E, Hofmann, P, Kidd, K, Dufour, I, Belge, H, Schaeffer, C, Kipp, A, Bonny, O, Deltas, C, Demoulin, N, Fehr, T, Fuster, D G, Gale, D P, Goffin, E, Hodanova, K, Huynh-Do, Uyen, Kistler, Andreas, Morelle, J, Papagregoriou, G, Pirson, Y, Sandford, R, Sayer, J A, Torra, R, Venzin, C, Venzin, R, Vogt, B, Živná, M, Greka, A, Dahan, K, Rampoldi, L, Devuyst, Olivier, et al

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______885::447e2f474e262d9c3cc1dc7f812da426
https://doi.org/10.5167/uzh-187881

Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD.

Autor: Econimo L; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili of Brescia, Italy., Schaeffer C; Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy., Zeni L; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili of Brescia, Italy., Cortinovis R; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili of Brescia, Italy., Alberici F; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili of Brescia, Italy., Rampoldi L; Molecular Genetics of Renal Disorders, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy., Scolari F; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili of Brescia, Italy., Izzi C; Division of Nephrology and Dialysis, Department of Medical and Surgical Specialties, Radiological Sciences, and Public Health, University of Brescia and ASST-Spedali Civili of Brescia, Italy.; Medical Genetics Clinic, Department of Obstetrics and Gynaecology, ASST-Spedali Civili, Brescia, Italy.

Publikováno v: Kidney international reports [Kidney Int Rep] 2022 Aug 29; Vol. 7 (11), pp. 2332-2344. Date of Electronic Publication: 2022 Aug 29 (Print Publication: 2022).

Genome-wide studies reveal factors associated with circulating uromodulin and its relationships to complex diseases.

Autor: Li Y; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and., Cheng Y; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and.; Faculty of Biology, University of Freiburg, Freiburg, Germany., Consolato F; Molecular Genetics of Renal Disorders group, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy., Schiano G; Institute of Physiology, University of Zurich, Zurich, Switzerland., Chong MR; Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada.; Department of Biochemistry and Biomedical Sciences and.; Department of Pathology and Molecular Medicine, Faculty of Health Science, McMaster University, Hamilton, Ontario, Canada., Pietzner M; Medical Research Council (MRC) Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.; Computational Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Nguyen NQH; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA., Scherer N; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and.; Spemann Graduate School of Biology and Medicine, University of Freiburg, Freiburg, Germany., Biggs ML; Cardiovascular Health Research Unit, Department of Medicine, and.; Department of Biostatistics, University of Washington, Seattle, Washington, USA., Kleber ME; SYNLAB MVZ Humangenetik Mannheim GmbH, Mannheim, Germany.; Vth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Haug S; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and., Göçmen B; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and., Pigeyre M; Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada.; Department of Medicine, Michael G. DeGroote School of Medicine, McMaster University, Hamilton, Ontario, Canada., Sekula P; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and., Steinbrenner I; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and., Schlosser P; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and.; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA., Joseph CB; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom., Brody JA; Cardiovascular Health Research Unit, Department of Medicine, and., Grams ME; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.; Division of Nephrology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA., Hayward C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom., Schultheiss UT; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and.; Department of Medicine IV: Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., Krämer BK; Vth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Kronenberg F; Institute of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria., Peters A; Institute of Epidemiology, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany.; Chair of Epidemiology, Institute for Medical Information Processing, Biometry, and Epidemiology, Faculty of Medicine, Ludwig-Maximilians-Universität (LMU), Munich, Germany., Seissler J; Medical Clinic and Policlinic IV, Hospital of the University of Munich, LMU Munich, Munich, Germany., Steubl D; Division of Nephrology, Tufts Medical Center, Boston, Massachusetts, USA.; Department of Nephrology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.; Boehringer Ingelheim International GmbH, Ingelheim, Germany., Then C; Medical Clinic and Policlinic IV, Hospital of the University of Munich, LMU Munich, Munich, Germany., Wuttke M; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and.; Department of Medicine IV: Nephrology and Primary Care, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany., März W; Vth Department of Medicine, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.; Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria.; SYNLAB Academy, SYNLAB Holding Deutschland GmbH, Augsburg and Mannheim, Germany., Eckardt KU; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Department of Nephrology and Hypertension, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Gieger C; Institute of Epidemiology, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany.; Research Unit of Molecular Epidemiology, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany.; German Center for Diabetes Research (DZD), Partner Munich, Neuherberg, Germany., Boerwinkle E; Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Psaty BM; Cardiovascular Health Research Unit, Department of Medicine, and.; Department of Epidemiology and.; Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, Washington, USA., Coresh J; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA., Oefner PJ; Institute of Functional Genomics, University of Regensburg, Regensburg, Germany., Pare G; Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences, Hamilton, Ontario, Canada.; Department of Pathology and Molecular Medicine, Faculty of Health Science, McMaster University, Hamilton, Ontario, Canada., Langenberg C; Medical Research Council (MRC) Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.; Computational Medicine, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Scherberich JE; Munich Clinic Harlaching, LMU Munich, Munich, Germany., Yu B; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA., Akilesh S; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA., Devuyst O; Institute of Physiology, University of Zurich, Zurich, Switzerland., Rampoldi L; Molecular Genetics of Renal Disorders group, Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milan, Italy., Köttgen A; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, and.; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA.; Centre for Integrative Biological Signalling Studies (CIBSS), University of Freiburg, Freiburg, Germany.

Publikováno v: JCI insight [JCI Insight] 2022 May 23; Vol. 7 (10). Date of Electronic Publication: 2022 May 23.