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

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作者: Yask,Gupta [1] ; David J,Friedman [2] ; Michelle T,McNulty [3] ; Atlas,Khan [4] ; Brandon,Lane [5] ; Chen,Wang [4] ; Juntao,Ke [4] ; Gina,Jin [4] ; Benjamin,Wooden [4] ; Andrea L,Knob [2] ; Tze Y,Lim [6] ; Gerald B,Appel [4] ; Kinsie,Huggins [5] ; Lili,Liu [4] ; Adele,Mitrotti [7] ; Megan C,Stangl [5] ; Andrew,Bomback [4] ; Rik,Westland [8] ; Monica,Bodria [9] ; Maddalena,Marasa [4] ; Ning,Shang [4] ; David J,Cohen [4] ; Russell J,Crew [4] ; William,Morello [10] ; Pietro,Canetta [4] ; Jai,Radhakrishnan [4] ; Jeremiah,Martino [4] ; Qingxue,Liu [4] ; Wendy K,Chung [11] ; Angelica,Espinoza [12] ; Yuan,Luo [12] ; Wei-Qi,Wei [13] ; Qiping,Feng [13] ; Chunhua,Weng [14] ; Yilu,Fang [14] ; Iftikhar J,Kullo [15] ; Mohammadreza,Naderian [15] ; Nita,Limdi [16] ; Marguerite R,Irvin [17] ; Hemant,Tiwari [18] ; Sumit,Mohan [19] ; Maya,Rao [4] ; Geoffrey K,Dube [4] ; Ninad S,Chaudhary [17] ; Orlando M,Gutiérrez [20] ; Suzanne E,Judd [18] ; Mary,Cushman [21] ; Leslie A,Lange [22] ; Ethan M,Lange [22] ; Daniel L,Bivona [4] ; Miguel,Verbitsky [4] ; Cheryl A,Winkler [23] ; Jeffrey B,Kopp [24] ; Dominick,Santoriello [25] ; Ibrahim,Batal [25] ; Sérgio Veloso Brant,Pinheiro [26] ; Eduardo Araújo,Oliveira [26] ; Ana Cristina,Simoes E Silva [26] ; Isabella,Pisani [27] ; Enrico,Fiaccadori [27] ; Fangming,Lin [28] ; Loreto,Gesualdo [7] ; Antonio,Amoroso [29] ; Gian Marco,Ghiggeri [9] ; Vivette D,D'Agati [25] ; Riccardo,Magistroni [30] ; Eimear E,Kenny [31] ; Ruth J F,Loos [32] ; Giovanni,Montini [33] ; Friedhelm,Hildebrandt [34] ; Dirk S,Paul [35] ; Slavé,Petrovski [35] ; David B,Goldstein [36] ; Matthias,Kretzler [37] ; Rasheed,Gbadegesin [5] ; Ali G,Gharavi [4] ; Krzysztof,Kiryluk [4] ; Matthew G,Sampson [38] ; Martin R,Pollak [2] ; Simone,Sanna-Cherchi [39]
作者单位: Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.;Institute for Inflammation Medicine, University of Lubeck, Lübeck, Germany. [1] Nephrology Division, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.;Harvard Medical School, Boston, MA, USA. [2] 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. [3] Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA. [4] Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA. [5] 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. [6] Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J) Nephrology, Dialysis and Transplantation Unit, University of Bari Aldo Moro, Bari, Italy. [7] Department of Pediatric Nephrology, Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. [8] Division of Nephrology and Renal Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.;Laboratory on Molecular Nephrology, IRCCS Istituto Giannina Gaslini, Genoa, Italy. [9] Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy. [10] Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY, USA. [11] Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. [12] Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. [13] Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, USA. [14] Atherosclerosis and Lipid Genomics Laboratory, Mayo Clinic, Rochester, MN, USA. [15] Department of Neurology, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. [16] Department of Epidemiology, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA. [17] Department of Biostatistics, School of Public Health, University of Alabama at Birmingham, Birmingham, AL, USA. [18] 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. [19] 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. [20] Department of Medicine and Pathology and Laboratory Medicine, University of Vermont, Burlington, VT, USA. [21] Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. [22] Cancer Innovation Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health and Basic Research Program, Frederick National Laboratory, Frederick, MD, USA. [23] Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA. [24] Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA. [25] 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. [26] Nephrology Unit, Parma University Hospital, and Department of Medicine and Surgery, University of Parma, Parma, Italy. [27] Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, NY, USA. [28] Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino", Department of Medical Sciences, University of Turin, Turin, Italy. [29] Surgical, Medical and Dental Department of Morphological Sciences, Section of Nephrology, University of Modena and Reggio Emilia, Modena, Italy. [30] 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. [31] 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. [32] 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. [33] Harvard Medical School, Boston, MA, USA.;Division of Pediatric Nephrology, Boston Children's Hospital, Boston, MA, USA. [34] Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. [35] Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. [36] Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, USA. [37] 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. [38] Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA. ss2517@cumc.columbia.edu. [39]
DOI 10.1038/s41467-023-43020-9
PMID 38036523
发布时间 2025-01-04
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