全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Agnieszka Bierzynska , Alain Schmitt ...
来源:[J].The American Journal of Human Genetics(IF 11.202), 2019, Vol.104 (2), pp.348-355Elsevier
摘要:Steroid-resistant nephrotic syndrome (SRNS) is characterized by high-range proteinuria and most often focal and segmental glomerulosclerosis (FSGS). Identification of mutations in genes causing SRNS has improved our understanding of disease mechanisms and highlighted defects...
作者:Agnieszka Bierzynska , Madhav C. Menon ...
来源:[J].Kidney International(IF 7.916), 2019, Vol.96 (3), pp.642-655Elsevier
摘要:The essential role of membrane associated guanylate kinase 2 (MAGI2) in podocytes is indicated by the phenotypes of severe glomerulosclerosis of both MAGI2 knockout mice and in patients with congenital nephrotic syndrome (CNS) caused by mutations in MAGI2. Here, we show that MAGI...
作者:Agnieszka Bierzynska , Moin A. Saleem
来源:[J].Pediatric Nephrology(IF 2.939), 2018, Vol.33 (11), pp.2027-2035Springer
摘要:Abstract(#br)After renal transplantation, recurrence of the original disease is the second most common cause of graft loss, after rejection. The most dramatic manifestation of this phenomenon is in patients with nephrotic syndrome (NS). NS is a descriptive term describing a ...
作者:Agnieszka Bierzynska , Heon Yung Gee ...
来源:[J].The American Journal of Human Genetics(IF 11.202), 2015, Vol.96 (1), pp.153-161Elsevier
摘要:Nephrotic syndrome (NS), the association of gross proteinuria, hypoalbuminaemia, edema, and hyperlipidemia, can be clinically divided into steroid-sensitive (SSNS) and steroid-resistant (SRNS) forms. SRNS regularly progresses to end-stage renal failure. By homozygosity mapping an...
作者:Agnieszka Bierzynska , Michael J. Randles ...
来源:[J].Pediatric Nephrology(IF 2.939), 2015, Vol.30 (9), pp.1459-1465Springer
摘要:Abstract(#br) Background(#br)Mutations in podocyte and basement membrane genes are associated with a growing spectrum of glomerular disease affecting adults and children. Investigation of familial cases has helped to build understanding of both normal physiology and disease....
作者:Agnieszka Bierzynska , Eliana Barbagelata ...
来源:[J].Journal of Clinical Investigation(IF 12.812), 2017, Vol.127 (3), pp.942-953ProQuest
摘要:Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phos...

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