نتایج جستجو برای: nphs2 protein

تعداد نتایج: 1234819  

Journal: :Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia 2013
Amelia Rodrigues Pereira Sabino Vicente de Paulo Castro Teixeira Sonia Kiyomi Nishida Nelson Sass Juliana Busato Mansur Gianna Mastroianni Kirsztajn

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...

Journal: :FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003
Lorenz Sellin Tobias B Huber Peter Gerke Ivo Quack Hermann Pavenstädt Gerd Walz

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...

Journal: :Developmental biology 2007
Hani Suleiman Daniel Heudobler Anne-Sarah Raschta Yangu Zhao Qi Zhao Irmgard Hertting Helga Vitzthum Marcus J Moeller Lawrence B Holzman Reinhard Rachel Randy Johnson Heiner Westphal Anne Rascle Ralph Witzgall

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...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده کشاورزی 1391

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...

Journal: :Journal of the American Society of Nephrology : JASN 2015
Lihua Dong Stefan Pietsch Zenglai Tan Birgit Perner Ralph Sierig Dagmar Kruspe Marco Groth Ralph Witzgall Hermann-Josef Gröne Matthias Platzer Christoph Englert

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...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2010
Paul E de Jong Ron T Gansevoort

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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