At least 170 mutations in the NPHS2 gene have been found to cause congenital nephrotic syndrome. This condition is a kidney disorder that begins in infancy and typically leads to …

2024年12月25日 · NPHS2 (NPHS2 Stomatin Family Member, Podocin) is a Protein Coding gene. Diseases associated with NPHS2 include Nephrotic Syndrome, Type 2 and Nephrotic …

NPHS2 stomatin 家族成员，podocin： 该基因编码的蛋白质在调节肾小球通透性方面发挥作用。 该基因的突变会导致类固醇耐药性肾病综合征。 可变剪接导致多个转录本变体。

Almost 50 NPHS2 mutations have been reported and variants and/or non silent polymorphisms potentially involved in proteinuria were recognized. Personalized data on clinical aspects …

足蛋白 (Podocin 、NPHS2)是在人體內由 NPHS2 (Nephrosis 2) 基因 編碼的 蛋白質。 [1][2][3] NPHS2已經顯示出與 腎病蛋白 (Nephrin) [4] 及 CD2AP [4] 有所 交互作用。

2014年4月1日 · Nephrotic syndrome type 2 (NPHS2) is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, …

Mutations in the podocin gene, NPHS2, have been shown in familial and sporadic forms of steroid-resistant nephrotic syndrome, including focal segmental glomerulosclerosis. Podocin is …

NPHS2 gene mutations are not a major cause of chronic renal insufficiency caused by sporadic SRNS or heavy proteinuria in Japanese children. results reveal defective cellular processing of …

"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome". Nat Genet. 24 (4): 349–54. doi: 10.1038/74166. PMID …

NPHS2 is almost exclusively expressed in the podocytes of fetal and mature kidney glomeruli, and encodes a new integral membrane protein, podocin, belonging to the stomatin protein …