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Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska, Agnieszka; Bull, Katherine; Miellet, Sara; Dean, Philip; Neal, Chris; Colby, Elizabeth; McCarthy, Hugh J; Hegde, Shivaram; Sinha, Manish D; Bugarin Diz, Carmen; Stirrups, Kathleen; Megy, Karyn; Mapeta, Rutendo; Penkett, Chris; Marsh, Sarah; Forrester, Natalie; Afzal, Maryam; Stark, Hannah; BioResource, Nihr; Williams, Maggie; Welsh, Gavin I; Koziell, Ania B; Hartley, Paul S; Saleem, Moin A.
Afiliação
  • 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.
  • Dean P; Illawarra Health and Medical Research Institute, Molecular Horizons and School of Medicine, University of Wollongong, Wollongong, Australia.
  • Neal C; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, 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.
  • Hegde S; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.
  • Sinha MD; School of Medicine, University of Sydney and Children's Hospital at Westmead, Westmead, Australia.
  • Bugarin Diz C; Children's Kidney Centre, University Hospital of Wales, Cardiff, UK.
  • Stirrups K; Department of Paediatric Nephrology, Evelina London Children's Hospital, Guy's and St, Thomas' Hospital, London, UK.
  • Megy K; School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 7EH, UK.
  • Mapeta R; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Penkett C; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Marsh S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
  • Forrester N; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Afzal M; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.
  • Stark H; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • BioResource N; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK.
  • Williams M; Illawarra Health and Medical Research Institute, Molecular Horizons and School of Medicine, University of Wollongong, Wollongong, Australia.
  • Welsh GI; Bristol Renal and Children's Renal Unit, Bristol Medical School, University of Bristol, Whitson Street, Bristol, BS1 3NY, UK.
  • Koziell AB; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Hartley PS; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Saleem MA; Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol, UK.
Pediatr Nephrol ; 37(11): 2643-2656, 2022 11.
Article em En | MEDLINE | ID: mdl-35211795
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo de Proteínas Formadoras de Poros Nucleares / Drosophila melanogaster / Podócitos / Síndrome Nefrótica Limite: Adult / Animals / Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Complexo de Proteínas Formadoras de Poros Nucleares / Drosophila melanogaster / Podócitos / Síndrome Nefrótica Limite: Adult / Animals / Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article