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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Genetic forms of isolated steroid-resistant nephrotic syndrome

Genetic forms of isolated steroid-resistant nephrotic syndrome
Gene Protein Protein function Genetic transmission Age at onset of proteinuria Histology
NPHS1 Nephrin Podocyte slit diaphragm protein AR 0 to 10 years MCD, FSGS
NPHS2 Podocin Podocyte slit diaphragm protein AR 0 to 40 years MCD, FSGS
PLCE1 Phospholipase C epsilon-1 Podocyte differentiation, signalling protein AR 0 to 8 years DMS, FSGS
MYO1E Myosin 1E Actin function AR 2 months to 9 years FSGS
ADCK4 aarF domain-containing kinase 4 Podocyte cytoskeleton AR <1 to 21 years FSGS
TTC21B Intraflagellar transport protein IFT139 Trafficking regulation in the primary cilium AR 9 to 30 years FSGS
CRB2 Crumbs homolog 2 protein Regulation of podocyte polarity AR 9 months to 6 years FSGS
CD2AP CD-2 associated protein Podocyte slit diaphragm protein AR 1 year FSGS
PTPRO Receptor-type tyrosine-protein phosphatase O Podocyte signaling AR 5 to 14 years MCD, FSGS
ACTN4 Alpha-actinin 4 Podocyte cytoskeleton AD 3 to 54 years FSGS
TRPC6 Transient receptor potential channel 6 Calcium channel AD 2 to 75 years FSGS
INF2 Inverted formin 2 Actin regulation AD 5 to 72 years FSGS
ARHGAP24 RHO GTPase-activating protein 24 Actin function AD <12 to 20 years FSGS
ANLN Anillin Actin function AD 9 to 69 years FSGS
PAX2 Paired box protein 2 Kidney development AD 7 to 68 years FSGS
AR: autosomal recessive; MCD: minimal change disease; FSGS: focal segmental glomerulosclerosis; DMS: diffuse mesangial sclerosis; AD: autosomal dominant.
Graphic 107089 Version 1.0

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