A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis

L Zhuo, L Huang, Z Yang, G Li, L Wang - BMC medical genetics, 2019 - Springer
Background Focal segmental glomerulosclerosis (FSGS) is still one of the common causes
of refractory nephrotic syndrome. Nephrin, encoded by podocyte-specific NPHS1 gene …

[HTML][HTML] A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report

D Xie, J Wu, W Zhang, T Jin, P Wu, B An, S Huang - Medicine, 2023 - journals.lww.com
Interventions: The main treatment options for the patient were 2-fold: anti-infective treatment
and symptomatic treatment. Outcomes: The patient died in follow-up 2 months later; the …

Identification of Nephrin gene variants in Indian children associated with Steroid sensitive and Steroid resistant nephrotic syndrome

GS Parmar, JM Thakor, KN Mistry, S Gang, DN Rank… - Meta Gene, 2022 - Elsevier
Nephrotic syndrome (NS) remains the most frequent indication of glomerular disease in
childhood. The NPHS1 gene encoding nephrin protein is one of the common mutant genes …

Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants: a multicentre retrospective study

MD Georgia Malakasioti, MD Daniela Iancu… - kidney-international.org
Calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants: a
multicentre retrospective study Georgia Mala Page 1 Calcineurin inhibitors in nephrotic …

[PDF][PDF] NPHS1 and NPHS2 Variants Associated with Early-Onset Frequently Relapsing or Steroid-Dependent Nephrotic Syndrome

AO Babalghith, NA Elhawary, IS Abumansour… - academia.edu
Background: Glomerular podocytes and slit diaphragms remain the major causes of
progressive proteinuria and nephrotic syndrome (NS). Objective: Here, we analyzed genetic …

[引用][C] 芬兰型先天性肾病综合征1 例家系基因分析及文献复习# br

高金枝, 陈玲 - 临床儿科杂志, 2018