نتایج جستجو برای: nphs2
تعداد نتایج: 351 فیلتر نتایج به سال:
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...
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...
One of the many challenges facing researchers in the postgenomic era is the assignment of biologic functions to all the gene sequences now publicly available. In many centers, the mouse is the experimental model of choice for studying the genetics of human development and disease. The mouse is a powerful tool to study human biology because of the remarkable similarities of the genetic, cellular...
1 Pediatrics Center of Excellence. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 2 Research Center for Immunodeficiencies. Children's Medical Center, Tehran University of Medical Sciences. Tehran (Iran) 3 Department of Pediatrics. Faculty of Medicine, Hacettepe University. Ankara (Turkey) 4 Institute of Human Genetics, University Hospital of Magdeburg. Magdebur...
CD38 is a multifunctional protein involving in a number of signalling pathways. Given that the lack of CD38 is considered as a dedifferentiation marker of lymphocytes and other cells, we hypothesized that CD38 and its signalling pathway may participate in the epithelial-to-mesenchymal transition (EMT) process of podocytes and thereby regulates the integrity of glomerular structure and function....
Abstract Background Genetic causes are increasingly recognized in patients with Focal Segmental Glomerulosclerosis (FSGS), but it remains unclear which should undergo a genetic study. Our objective was to determine the frequency and distribution of variants steroid-resistant nephrotic syndrome FSGS (SRNS-FSGS) or undetermined cause (FSGS-UC). Methods We performed targeted exome sequencing 84 ge...
Growing evidence suggests that there are many common cell biological features shared by neurons and podocytes; however, the mechanism of podocyte foot process formation remains unclear. Comparing the mechanisms of process formation between two cell types should provide useful guidance from the progress of neuron research. Studies have shown that some mature proteins of podocytes, such as podoci...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید