نتایج جستجو برای: nphs2 protein
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INTRODUCTION The podocyturia has been detected in glomerular diseases, such as lupus nephritis (LN), in which proteinuria is an important manifestation, and its occurrence seems to be limited to the active phase of the disease. OBJECTIVE To evaluate podocyturia in LN patients, and the possible association with clinical disease activity. METHODS We evaluated 56 patients with LN, that were cl...
Mutations of NPHS1 or NPHS2, the genes encoding for the glomerular podocyte proteins nephrin and podocin, cause steroid-resistant proteinuria. In addition, mice lacking NEPH1 develop a nephrotic syndrome that resembles NPHS mutations, suggesting that all three proteins are essential for the integrity of glomerular podocytes. Podocin interacts with the C-terminal domain of nephrin and facilitate...
Introduction: Nephrotic syndrome (NS) is a genetic disease belonging to a heterogeneous group of glomerular disorders, which mainly occurs within the children. Linkage analysis using single nucleotide polymorphisms (SNP) is used as an indirect method in molecular diagnosis of the disease. A large number of SNP markers have been introduced in NPHS2gene in the available electronic databases. M...
Patients with nail-patella syndrome, which among other symptoms also includes podocyte-associated renal failure, suffer from mutations in the LMX1B gene. The disease severity among patients is quite variable and has given rise to speculations on the presence of modifier genes. Promising candidates for modifier proteins are the proteins interacting with LMX1B, such as LDB1 and E47. Since human k...
بررسی بیان ژنهای دخیل در سیستم دفاعی گندم نسبت به mycosphaerella graminicola با استفاده از cdna-aflp
aflp یک ابزار قدرتمند برای تشخیص رونوشت هایی با فراوانی کم است و می تواند بعنوان یک روش کارآمد برای جداسازی ژنهایی که بطور متمایز بیان می شوند، بکار رود. بنابراین القا متمایز ژنها در گندم ( رقم چمران و مرودشت) در پاسخ به قارچ m.graminicola بوسیله آنالیز cdna-aflp مورد مطالعه قرار گرفت . در ابتدا گیاهان بوسیله بیمارگر مایه زنی شدند. نمونه برداری در 6 نقطه زمانی(0، 12، 24، 48، 72 و 96 ساعت) بعد ا...
The Wilms' tumor suppressor gene 1 (WT1) encodes a zinc finger transcription factor. Mutation of WT1 in humans leads to Wilms' tumor, a pediatric kidney tumor, or other kidney diseases, such as Denys-Drash and Frasier syndromes. We showed previously that inactivation of WT1 in podocytes of adult mice results in proteinuria, foot process effacement, and glomerulosclerosis. However, the WT1-depen...
encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant ne-phrotic syndrome. Nat Genet 2000; 24: 349–354 9. Hinkes B, Vlangos C, Heeringa S et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. A, Le TC et al. NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associate...
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