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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ISSN:1432-198X
DOI:10.1007/s00467-022-05440-5