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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

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Title: Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Authors: Bierzynska A; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK., Bull K; Nuffield Department of Medicine, University of Oxford, Oxford, UK., Miellet S; Department of Life and Environmental Science, Bournemouth University, Talbot Campus, Fern Barrow, Poole, Dorset, BH12 5BB, England, UK.; Illawarra Health and Medical Research Institute, Molecular Horizons and School of Medicine, University of Wollongong, Wollongong, Australia., Dean P; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK., Neal C; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK., Colby E; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK., McCarthy HJ; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.; School of Medicine, University of Sydney and Children's Hospital at Westmead, Westmead, Australia., Hegde S; Children's Kidney Centre, University Hospital of Wales, Cardiff, UK., Sinha MD; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital, London, UK., Bugarin Diz C; School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 7EH, UK., Stirrups K; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Megy K; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK., Mapeta R; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK., Penkett C; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Marsh S; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK., Forrester N; Illawarra Health and Medical Research Institute, Molecular Horizons and School of Medicine, University of Wollongong, Wollongong, Australia., Afzal M; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK., Stark H; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., BioResource N; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK., Williams M; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK., Welsh GI; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK., Koziell AB; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital, London, UK.; School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 7EH, UK., Hartley PS; Department of Life and Environmental Science, Bournemouth University, Talbot Campus, Fern Barrow, Poole, Dorset, BH12 5BB, England, UK., Saleem MA; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK. M.Saleem@bristol.ac.uk.
Source: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Nov; Vol. 37 (11), pp. 2643-2656. Date of Electronic Publication: 2022 Feb 24.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
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  Data: <searchLink fieldCode="AU" term="%22Bierzynska+A%22">Bierzynska A</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.<br /><searchLink fieldCode="AU" term="%22Bull+K%22">Bull K</searchLink>; Nuffield Department of Medicine, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Miellet+S%22">Miellet S</searchLink>; Department of Life and Environmental Science, Bournemouth University, Talbot Campus, Fern Barrow, Poole, Dorset, BH12 5BB, England, UK.; Illawarra Health and Medical Research Institute, Molecular Horizons and School of Medicine, University of Wollongong, Wollongong, Australia.<br /><searchLink fieldCode="AU" term="%22Dean+P%22">Dean P</searchLink>; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Neal+C%22">Neal C</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.<br /><searchLink fieldCode="AU" term="%22Colby+E%22">Colby E</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.<br /><searchLink fieldCode="AU" term="%22McCarthy+HJ%22">McCarthy HJ</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.; School of Medicine, University of Sydney and Children's Hospital at Westmead, Westmead, Australia.<br /><searchLink fieldCode="AU" term="%22Hegde+S%22">Hegde S</searchLink>; Children's Kidney Centre, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Sinha+MD%22">Sinha MD</searchLink>; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Bugarin+Diz+C%22">Bugarin Diz C</searchLink>; School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 7EH, UK.<br /><searchLink fieldCode="AU" term="%22Stirrups+K%22">Stirrups K</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Megy+K%22">Megy K</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Mapeta+R%22">Mapeta R</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.<br /><searchLink fieldCode="AU" term="%22Penkett+C%22">Penkett C</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Marsh+S%22">Marsh S</searchLink>; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Forrester+N%22">Forrester N</searchLink>; Illawarra Health and Medical Research Institute, Molecular Horizons and School of Medicine, University of Wollongong, Wollongong, Australia.<br /><searchLink fieldCode="AU" term="%22Afzal+M%22">Afzal M</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.<br /><searchLink fieldCode="AU" term="%22Stark+H%22">Stark H</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22BioResource+N%22">BioResource N</searchLink>; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.<br /><searchLink fieldCode="AU" term="%22Williams+M%22">Williams M</searchLink>; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Welsh+GI%22">Welsh GI</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.<br /><searchLink fieldCode="AU" term="%22Koziell+AB%22">Koziell AB</searchLink>; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital, London, UK.; School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 7EH, UK.<br /><searchLink fieldCode="AU" term="%22Hartley+PS%22">Hartley PS</searchLink>; Department of Life and Environmental Science, Bournemouth University, Talbot Campus, Fern Barrow, Poole, Dorset, BH12 5BB, England, UK.<br /><searchLink fieldCode="AU" term="%22Saleem+MA%22">Saleem MA</searchLink>; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK. M.Saleem@bristol.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%228708728%22">Pediatric nephrology (Berlin, Germany)</searchLink> [Pediatr Nephrol] 2022 Nov; Vol. 37 (11), pp. 2643-2656. <i>Date of Electronic Publication: </i>2022 Feb 24.
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