Human pluripotent stem cell-derived kidney organoids for personalized congenital and idiopathic nephrotic syndrome modeling

J Jansen, BT van den Berge, M van den Broek… - …, 2022 - journals.biologists.com
Nephrotic syndrome (NS) is characterized by severe proteinuria as a consequence of kidney
glomerular injury due to podocyte damage. In vitro models mimicking in vivo podocyte …

[HTML][HTML] Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family

X Li, J Fan, R Fu, M Peng, J He, Q Chen, S Wang… - Medicine, 2024 - journals.lww.com
Background: Genetic factors contribute to chronic kidney disease (CKD) and end-stage
renal disease (ESRD). Advances in genetic testing have enabled the identification of …

[PDF][PDF] 足细胞相关突变基因致激素耐药型肾病综合征的机制研究进展

张黎雯, 王乐平 - 中国当代儿科杂志, 2014 - zgddek.com
激素耐药型肾病综合征的治疗十分棘手, 其发病机制尚未完全阐明. 近年来, 相关研究发现一些足
细胞突变基因可能在激素耐药型肾病综合征病例的发病过程中起到了重要作用 …

[PDF][PDF] A preliminary study on NPHS2 Gene Polymorphism (R229Q) in Diabetic Nephropathy patients from South India

UN Mahwish, AT Jaffer, GM Mughni Chisti… - J Cell Sci Molecul …, 2014 - researchgate.net
Background: Diabetic nephropathy is a major microvascular complication of type 2 diabetes
leading to end stage renal disease. Mutations in NPHS2, encoding podocin have been …

[HTML][HTML] Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome

SS Jyoti, F Islam, II Shrabonee, TN Sultana, NI Chaity… - Heliyon, 2020 - cell.com
Background Limited and contradictory pharmacogenetic studies of NPHS2 gene R229Q
polymorphism in nephrotic syndrome (NS) children of different ethnicities steered us to …

[PDF][PDF] α-Actinin-4 gene mutations, steroid responsiveness and FSGS in adult onset-nephrotic syndrome

ATF Jaffer, SB Raju, P Jahan - Hereditary Genet, 2016 - researchgate.net
Focal segmental glomerulosclerosis (FSGS) is a common pattern of injury seen in primary
as well as secondary renal disorders and is a major cause of steroid-resistant nephrotic …

PLCE1 基因突变致激素耐药型肾病综合征1 例报告并文献复习

李旺辉, 苏达永, 强瑞雪 - 临床儿科杂志, 2020 - jcp.xinhuamed.com.cn
目的分析PLCE1 基因突变致激素耐药型肾病综合征(SRNS) 的临床特征和基因变异特点.
方法回顾分析1 例确诊的由PLCE1 基因突变致SRNS 患儿的临床资料, 并复习相关文献 …

A narrative review on nephrotic syndrome emphasizing its correlation with polymorphism of angiotensin converting enzyme and renin-angiotensin system

P Ahmadi, H Ahmadvand, SAY Ahmadi… - Crescent Journal of …, 2017 - eprints.lums.ac.ir
Numerous meta-analyses have been shown that the nephrotic syndrome is one of the most
important reasons of renal failure in children that is monies-taking for health organizations …

Implication of podocin promoter variant haplotype in south Indian diabetic kidney patients

UN Mahwish, MK Pasha, B Heera, SB Raju, P Jahan - Meta Gene, 2021 - Elsevier
Abstract Type 2 diabetes (T2D) is a global epidemic, 40% of T2D individuals are associated
with diabetic kidney disease (DKD) a major microvascular complication leading to end stage …

[引用][C] 霉酚酸酯治疗原发性肾病综合征的可行性分析

王春花 - 中外医疗, 2014