Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant.
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| Title: | Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant. |
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| Authors: | Martinelli E; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Ke J; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Khan A; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Wongboonsin J; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Renal Division, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Division of Nephrology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Bumrungrad Genomic Medicine Institute and Department of Medicine, Bumrungrad International Hospital, Bangkok, Thailand., Vanderwall DR; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts., Lim TY; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.; Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy., Santoriello D; The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, New York., Gupta Y; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany., McNulty MT; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge., Koyama S; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston., Puntambekar S; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts., Bomback AS; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Canetta P; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Kretzler M; Division of Nephrology, Department of Internal Medicine, University of Michigan, Ann Arbor., Montini G; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Morello W; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Maggiore U; UO Nefrologia, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy., Fiaccadori E; UO Nefrologia, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy., 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., Ghiggeri GM; Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Oliveira EA; Unidade de Nefrologia Pediátrica, Departamento de Pediatria, Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil., Simoes E Silva AC; Unidade de Nefrologia Pediátrica, Departamento de Pediatria, Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil., Bendapudi PK; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Division of Hematology and Blood Transfusion Service, Massachusetts General Hospital, Boston.; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center, Boston, Massachusetts., Motelow J; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Columbia University Medical Center, New York, New York., Garcia CK; Medicine/Pulmonary, Allergy, and Critical Care Medicine, Columbia University Irving Medical Center, New York, New York.; Precision Medicine Initiative and the Center for Precision Medicine and Genomics, Columbia University, New York, New York., Paul DS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom., Goldstein DB; Actio Biosciences Inc, San Diego, California., Friedman DJ; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts., Radhakrishnan J; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Lin F; Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, New York., Mohan S; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Appel GB; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Saleem MA; Bristol Renal, University of Bristol, and Bristol Royal Children's Hospital, Bristol, United Kingdom., Natarajan P; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston., Hildebrandt F; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts., Westland R; Department of Pediatric Nephrology, Amsterdam UMC - Emma Children's Hospital, location University of Amsterdam, Amsterdam, the Netherlands., D'Agati VD; The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, New York., Gbadegesin R; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina., Gharavi AG; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Pollak MR; Harvard Medical School, Boston, Massachusetts.; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts., Kiryluk K; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York., Sampson MG; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Division of Nephrology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.; Department of Pediatrics and Medicine, Harvard Medical School, Boston, Massachusetts., Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York. |
| Corporate Authors: | Columbia Genomics Consortium |
| Source: | JAMA network open [JAMA Netw Open] 2026 Mar 02; Vol. 9 (3), pp. e261452. Date of Electronic Publication: 2026 Mar 02. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41811315 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Martinelli+E%22">Martinelli E</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Ke+J%22">Ke J</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Khan+A%22">Khan A</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Wongboonsin+J%22">Wongboonsin J</searchLink>; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Renal Division, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.; Division of Nephrology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Bumrungrad Genomic Medicine Institute and Department of Medicine, Bumrungrad International Hospital, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22Vanderwall+DR%22">Vanderwall DR</searchLink>; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Lim+TY%22">Lim TY</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.; Unit of Genomic Variability and Complex Diseases, Department of Medical Sciences, University of Turin, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Santoriello+D%22">Santoriello D</searchLink>; The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, New York.<br /><searchLink fieldCode="AU" term="%22Gupta+Y%22">Gupta Y</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.<br /><searchLink fieldCode="AU" term="%22McNulty+MT%22">McNulty MT</searchLink>; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.<br /><searchLink fieldCode="AU" term="%22Koyama+S%22">Koyama S</searchLink>; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston.<br /><searchLink fieldCode="AU" term="%22Puntambekar+S%22">Puntambekar S</searchLink>; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Bomback+AS%22">Bomback AS</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Canetta+P%22">Canetta P</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Kretzler+M%22">Kretzler M</searchLink>; Division of Nephrology, Department of Internal Medicine, University of Michigan, Ann Arbor.<br /><searchLink fieldCode="AU" term="%22Montini+G%22">Montini G</searchLink>; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Morello+W%22">Morello W</searchLink>; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Maggiore+U%22">Maggiore U</searchLink>; UO Nefrologia, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.<br /><searchLink fieldCode="AU" term="%22Fiaccadori+E%22">Fiaccadori E</searchLink>; UO Nefrologia, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.<br /><searchLink fieldCode="AU" term="%22Gesualdo+L%22">Gesualdo L</searchLink>; Department of Precision and Regenerative Medicine and Ionian Area (DiMePre-J) Nephrology, Dialysis and Transplantation Unit, University of Bari Aldo Moro, Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Ghiggeri+GM%22">Ghiggeri GM</searchLink>; Nephrology, Dialysis, and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Oliveira+EA%22">Oliveira EA</searchLink>; Unidade de Nefrologia Pediátrica, Departamento de Pediatria, Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.<br /><searchLink fieldCode="AU" term="%22Simoes+E+Silva+AC%22">Simoes E Silva AC</searchLink>; Unidade de Nefrologia Pediátrica, Departamento de Pediatria, Laboratório Interdisciplinar de Investigação Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG, Brazil.<br /><searchLink fieldCode="AU" term="%22Bendapudi+PK%22">Bendapudi PK</searchLink>; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Division of Hematology and Blood Transfusion Service, Massachusetts General Hospital, Boston.; Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Motelow+J%22">Motelow J</searchLink>; Division of Critical Care and Hospital Medicine, Department of Pediatrics, Columbia University Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Garcia+CK%22">Garcia CK</searchLink>; Medicine/Pulmonary, Allergy, and Critical Care Medicine, Columbia University Irving Medical Center, New York, New York.; Precision Medicine Initiative and the Center for Precision Medicine and Genomics, Columbia University, New York, New York.<br /><searchLink fieldCode="AU" term="%22Paul+DS%22">Paul DS</searchLink>; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Petrovski+S%22">Petrovski S</searchLink>; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Goldstein+DB%22">Goldstein DB</searchLink>; Actio Biosciences Inc, San Diego, California.<br /><searchLink fieldCode="AU" term="%22Friedman+DJ%22">Friedman DJ</searchLink>; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Radhakrishnan+J%22">Radhakrishnan J</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Lin+F%22">Lin F</searchLink>; Division of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, New York.<br /><searchLink fieldCode="AU" term="%22Mohan+S%22">Mohan S</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Appel+GB%22">Appel GB</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Saleem+MA%22">Saleem MA</searchLink>; Bristol Renal, University of Bristol, and Bristol Royal Children's Hospital, Bristol, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Natarajan+P%22">Natarajan P</searchLink>; Department of Cell Biology, Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Westland+R%22">Westland R</searchLink>; Department of Pediatric Nephrology, Amsterdam UMC - Emma Children's Hospital, location University of Amsterdam, Amsterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22D'Agati+VD%22">D'Agati VD</searchLink>; The Renal Pathology Laboratory of the Department of Pathology and Cell Biology, Columbia University, New York, New York.<br /><searchLink fieldCode="AU" term="%22Gbadegesin+R%22">Gbadegesin R</searchLink>; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina.<br /><searchLink fieldCode="AU" term="%22Gharavi+AG%22">Gharavi AG</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Pollak+MR%22">Pollak MR</searchLink>; Harvard Medical School, Boston, Massachusetts.; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Kiryluk+K%22">Kiryluk K</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Sampson+MG%22">Sampson MG</searchLink>; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts.; Division of Nephrology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge.; Department of Pediatrics and Medicine, Harvard Medical School, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Sanna-Cherchi+S%22">Sanna-Cherchi S</searchLink>; Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, New York. – Name: AuthorCorporate Label: Corporate Authors Group: Au Data: <searchLink fieldCode="CA" term="%22Columbia+Genomics+Consortium%22">Columbia Genomics Consortium</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101729235%22">JAMA network open</searchLink> [JAMA Netw Open] 2026 Mar 02; Vol. 9 (3), pp. e261452. <i>Date of Electronic Publication: </i>2026 Mar 02. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22American+Medical+Association%22">American Medical Association </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101729235 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2574-3805 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2225743805%22">25743805 </searchLink><i>NLM ISO Abbreviation: </i>JAMA Netw Open <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41811315 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1001/jamanetworkopen.2026.1452 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e261452 Titles: – TitleFull: Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Martinelli E – PersonEntity: Name: NameFull: Ke J – PersonEntity: Name: NameFull: Khan A – PersonEntity: Name: NameFull: Wongboonsin J – PersonEntity: Name: NameFull: Vanderwall DR – PersonEntity: Name: NameFull: Lim TY – PersonEntity: Name: NameFull: Santoriello D – PersonEntity: Name: NameFull: Gupta Y – PersonEntity: Name: NameFull: McNulty MT – PersonEntity: Name: NameFull: Koyama S – PersonEntity: Name: NameFull: Puntambekar S – PersonEntity: Name: NameFull: Bomback AS – PersonEntity: Name: NameFull: Canetta P – PersonEntity: Name: NameFull: Kretzler M – PersonEntity: Name: NameFull: Montini G – PersonEntity: Name: NameFull: Morello W – PersonEntity: Name: NameFull: Maggiore U – PersonEntity: Name: NameFull: Fiaccadori E – PersonEntity: Name: NameFull: Gesualdo L – PersonEntity: Name: NameFull: Ghiggeri GM – PersonEntity: Name: NameFull: Oliveira EA – PersonEntity: Name: NameFull: Simoes E Silva AC – PersonEntity: Name: NameFull: Bendapudi PK – PersonEntity: Name: NameFull: Motelow J – PersonEntity: Name: NameFull: Garcia CK – PersonEntity: Name: NameFull: Paul DS – PersonEntity: Name: NameFull: Petrovski S – PersonEntity: Name: NameFull: Goldstein DB – PersonEntity: Name: NameFull: Friedman DJ – PersonEntity: Name: NameFull: Radhakrishnan J – PersonEntity: Name: NameFull: Lin F – PersonEntity: Name: NameFull: Mohan S – PersonEntity: Name: NameFull: Appel GB – PersonEntity: Name: NameFull: Saleem MA – PersonEntity: Name: NameFull: Natarajan P – PersonEntity: Name: NameFull: Hildebrandt F – PersonEntity: Name: NameFull: Westland R – PersonEntity: Name: NameFull: D'Agati VD – PersonEntity: Name: NameFull: Gbadegesin R – PersonEntity: Name: NameFull: Gharavi AG – PersonEntity: Name: NameFull: Pollak MR – PersonEntity: Name: NameFull: Kiryluk K – PersonEntity: Name: NameFull: Sampson MG – PersonEntity: Name: NameFull: Sanna-Cherchi S IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 03 Text: 2026 Mar 02 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2574-3805 Numbering: – Type: volume Value: 9 – Type: issue Value: 3 Titles: – TitleFull: JAMA network open Type: main |
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