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Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis.

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第一作者： Mira,Krendel

第一单位： Department of Cell and Developmental Biology, SUNY Upstate Medical University, Syracuse, NY, USA.

作者： Mira,Krendel ^[1] ; Sabine,Leh ^[2] ; Michael E,Garone ^[1] ; Alcia,Edwards-Richards ^[3] ; Jen-Jar,Lin ^[3] ; Damien,Brackman ^[4] ; Per,Knappskog ^[5] ; Alexei,Mikhailov ^[6]

作者单位： Department of Cell and Developmental Biology, SUNY Upstate Medical University, Syracuse, NY, USA. ^[1] Department of Pathology, Haukeland University Hospital, Bergen, Norway.;Department of Clinical Medicine, University of Bergen, Bergen, Norway. ^[2] Department of Pediatrics, Wake Forest Baptist Medical Center, Winston-Salem, NC, USA. ^[3] Department of Pediatrics, Haukeland University Hospital, Bergen, Norway. ^[4] Department of Clinical Science, University of Bergen, Bergen, Norway.;Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. ^[5] Department of Pathology, Atrium Health Wake Forest Baptist Medical Center, Winston-Salem, NC, USA. avmikhai@wakehealth.edu. ^[6]

关键词 Actin cables Alport-like Focal segmental glomerulosclerosis (FSGS)Glomerular basement membrane multilayering MYO1E Myo1e Non-muscle myosin