Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.

Autor: Gupta Y; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Institute for Inflammation Medicine, University of Lubeck, Lübeck, Germany., Friedman DJ; Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., McNulty MT; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.; Kidney Disease Initiative and Medical and Population Genetics Program, Broad Institute, Boston, MA, USA., Khan A; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Lane B; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Wang C; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Ke J; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Jin G; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Wooden B; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Knob AL; Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Lim TY; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy., Appel GB; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Huggins K; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Liu L; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Mitrotti A; Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J) Nephrology, Dialysis and Transplantation Unit, University of Bari Aldo Moro, Bari, Italy., Stangl MC; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Bomback A; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Westland R; Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Bodria M; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Marasa M; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Shang N; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Cohen DJ; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Crew RJ; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Morello W; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy., Canetta P; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Radhakrishnan J; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Martino J; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Liu Q; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY, USA., Espinoza A; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Luo Y; Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Wei WQ; Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Feng Q; Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Weng C; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA., Fang Y; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA., Kullo IJ; Atherosclerosis and Lipid Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Naderian M; Atherosclerosis and Lipid Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Limdi N; Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA., Irvin MR; Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Tiwari H; Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Mohan S; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA., Rao M; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Dube GK; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Chaudhary NS; Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Gutiérrez OM; Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA.; Division of Nephrology, Department of Medicine, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA., Judd SE; Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA., Cushman M; Department of Medicine and Pathology and Laboratory Medicine, University of Vermont, Burlington, VT, USA., Lange LA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lange EM; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Bivona DL; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Verbitsky M; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Winkler CA; Cancer Innovation Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health and Basic Research Program, Frederick National Laboratory, Frederick, MD, USA., Kopp JB; Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA., Santoriello D; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Batal I; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Pinheiro SVB; Universidade Federal de Minas Gerais (UFMG), Faculdade de Medicina, Laboratório Interdisciplinar de Investigação Médica, Departamento de Pediatria, Unidade de Nefrologia Pediátrica, Belo Horizonte, MG, Brazil., Oliveira EA; Universidade Federal de Minas Gerais (UFMG), Faculdade de Medicina, Laboratório Interdisciplinar de Investigação Médica, Departamento de Pediatria, Unidade de Nefrologia Pediátrica, Belo Horizonte, MG, Brazil., Simoes E Silva AC; Universidade Federal de Minas Gerais (UFMG), Faculdade de Medicina, Laboratório Interdisciplinar de Investigação Médica, Departamento de Pediatria, Unidade de Nefrologia Pediátrica, Belo Horizonte, MG, Brazil., Pisani I; Nephrology Unit, Parma University Hospital, and Department of Medicine and Surgery, University of Parma, Parma, Italy., Fiaccadori E; Nephrology Unit, Parma University Hospital, and Department of Medicine and Surgery, University of Parma, Parma, Italy., Lin F; Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, NY, USA., Gesualdo L; Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J) Nephrology, Dialysis and Transplantation Unit, University of Bari Aldo Moro, Bari, Italy., Amoroso A; Immunogenetics and Transplant Biology Service, University Hospital 'Città della Salute e della Scienza di Torino', Department of Medical Sciences, University of Turin, Turin, Italy., Ghiggeri GM; Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy., D'Agati VD; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Magistroni R; Surgical, Medical and Dental Department of Morphological Sciences, Section of Nephrology, University of Modena and Reggio Emilia, Modena, Italy., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Center for Translational Genomics, Icahn School of Medicine, New York, NY, 10027, USA.; Division of Genomic Medicine, Department of Medicine, Icahn School of Medicine, New York, NY, 10027, USA., Loos RJF; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark., Montini G; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.; Department of Clinical Sciences and Community Health, Giuliana and Bernardo Caprotti Chair of Pediatrics, University of Milano, Milano, Italy., Hildebrandt F; Harvard Medical School, Boston, MA, USA.; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA., Paul DS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK., Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kretzler M; Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, USA., Gbadegesin R; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Gharavi AG; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kiryluk K; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA., Sampson MG; Harvard Medical School, Boston, MA, USA.; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA.; Kidney Disease Initiative and Medical and Population Genetics Program, Broad Institute, Boston, MA, USA., Pollak MR; Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Sanna-Cherchi S; Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA. ss2517@cumc.columbia.edu.

Publikováno v: Nature communications [Nat Commun] 2023 Nov 30; Vol. 14 (1), pp. 7836. Date of Electronic Publication: 2023 Nov 30.

Association of trypanolytic ApoL1 variants with kidney disease in African Americans.

Autor: Genovese G; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02215, USA., Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Uscinski Knob AL, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR

Publikováno v: Science (New York, N.Y.) [Science] 2010 Aug 13; Vol. 329 (5993), pp. 841-5. Date of Electronic Publication: 2010 Jul 15.