A role for OCRL in glomerular function and disease.

Preston, Rebecca; Naylor, Richard W; Stewart, Graham; Bierzynska, Agnieszka; Saleem, Moin A; Lowe, Martin; Lennon, Rachel

Preston, Rebecca; Naylor, Richard W; Stewart, Graham; Bierzynska, Agnieszka; Saleem, Moin A; Lowe, Martin; Lennon, Rachel.

Afiliação

Preston R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PT, UK.
Naylor RW; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PT, UK.
Stewart G; Renal Department, Ninewells Hospital, Dundee, DD1 9SY, UK.
Bierzynska A; Children's and Academic Renal Unit, University of Bristol, Bristol, UK.
Saleem MA; Children's and Academic Renal Unit, University of Bristol, Bristol, UK.
Lowe M; Division of Molecular and Cellular Function, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PT, UK. martin.p.lowe@manchester.ac.uk.
Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, M13 9PT, UK. Rachel.lennon@manchester.ac.uk.

Pediatr Nephrol ; 35(4): 641-648, 2020 04.

Article em En | MEDLINE | ID: mdl-31811534

Assuntos

Glomerulosclerose Segmentar e Focal/genética; Glomérulos Renais/metabolismo; Síndrome Oculocerebrorrenal/genética; Animais; Criança; Canais de Cloreto; Glomerulosclerose Segmentar e Focal/complicações; Humanos; Masculino; Mutação; Síndrome Oculocerebrorrenal/complicações; Monoéster Fosfórico Hidrolases; Podócitos/metabolismo; Proteinúria/etiologia; Sequenciamento do Exoma; Peixe-Zebra

Palavras-chave

FSGS; Glomerular disease; Lowe syndrome; OCRL; Podocyte; Proteinuria

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glomerulosclerose Segmentar e Focal / Glomérulos Renais / Síndrome Oculocerebrorrenal Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child / Humans / Male Idioma: En Revista: Pediatr Nephrol Ano de publicação: 2020 Tipo de documento: Article

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