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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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7 p, 1.3 MB |
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
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Cabrera-López, Cristina (Institut d'Investigació Biomèdica Sant Pau) ;
Bullich Vilanova, Gemma (Institut d'Investigació Biomèdica Sant Pau) ;
Martí, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Català, Violeta (Institut d'Investigació Biomèdica Sant Pau) ;
Ballarín Castan, José Aurelio (Institut d'Investigació Biomèdica Sant Pau) ;
Bissler, John (Le Bonheur Children's Hospital) ;
Harris, Peter C. (Mayo Clinic) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. [...]
2015 - 10.1186/s12881-015-0185-y
BMC Medical Genetics, Vol. 16 (june 2015)
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