نتایج جستجو برای: nphs2

تعداد نتایج: 351  

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2009
Henriette A C Kyrieleis Marije M Löwik Ilse Pronk Hans R M Cruysberg Jan A M Kremer Wim J G Oyen Bert L P van den Heuvel Jack F M Wetzels Elena N Levtchenko

BACKGROUND AND OBJECTIVES Frequently relapsing and steroid-dependent minimal-change nephrotic syndrome (MCNS) that originates in childhood can persist after puberty in >20% of patients. These patients require immunosuppressive treatment during several decades of their life. We examined long-term adverse effects of persistent nephrotic syndrome and immunosuppressive medications, focusing on rena...

Journal: :The Journal of clinical investigation 2002
Claudia Rohr Jürgen Prestel Laurence Heidet Hiltraud Hosser Wilhelm Kriz Randy L Johnson Corinne Antignac Ralph Witzgall

Patients with nail-patella syndrome often suffer from a nephropathy, which ultimately results in chronic renal failure. The finding that this disease is caused by mutations in the transcription factor LMX1B, which in the kidney is expressed exclusively in podocytes, offers the opportunity for a better understanding of the renal pathogenesis. In our analysis of the nephropathy in nail-patella sy...

Journal: :American journal of nephrology 2009
Hiroshi Kajiyama Steve Titus Christopher P Austin Kathleen Chiotos Takayuki Matsumoto Toru Sakairi Jeffrey B Kopp

BACKGROUND Conditionally immortalized podocytes are valuable research tools but are difficult to efficiently transfect and do not provide graded transgene expression. METHODS Conditionally immortalized mouse podocyte cell lines were established employing a tetracycline-inducible system. Glomerular cells, isolated from transgenic mice bear- ing two transgenes, NPHS2-reverse tetracycline-contro...

Journal: :The Journal of clinical investigation 2002
Jeffrey H Miner Roy Morello Kaya L Andrews Cong Li Corinne Antignac Andrey S Shaw Brendan Lee

LMX1B encodes a LIM-homeodomain transcription factor. Mutations in LMX1B cause nail-patella syndrome (NPS), an autosomal dominant disease with skeletal abnormalities, nail hypoplasia, and nephropathy. Expression of glomerular basement membrane (GBM) collagens is reduced in Lmx1b(-/-) mice, suggesting one basis for NPS nephropathy. Here, we show that Lmx1b(-/-) podocytes have reduced numbers of ...

Journal: :Human molecular genetics 2013
Teresa Esposito Rod A Lea Bridget H Maher Dianne Moses Hannah C Cox Sara Magliocca Andrea Angius Dale R Nyholt Thomas Titus Troy Kay Nicholas A Gray Maria P Rastaldi Alan Parnham Fernando Gianfrancesco Lyn R Griffiths

Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2010
Anja K Büscher Birgitta Kranz Rainer Büscher Friedhelm Hildebrandt Bernd Dworniczak Petra Pennekamp Eberhard Kuwertz-Bröking Anne-Margret Wingen Ulrike John Markus Kemper Leo Monnens Peter F Hoyer Stefanie Weber Martin Konrad

BACKGROUND AND OBJECTIVES Mutations in podocyte genes are associated with steroid-resistant nephrotic syndrome (SRNS), mostly affecting younger age groups. To date, it is unclear whether these patients benefit from intensified immunosuppression with cyclosporine A (CsA). The aim of this study was to evaluate the influence of podocyte gene defects in congenital nephrotic syndrome (CNS) and pedia...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009
Kunihiko Aya Junya Shimizu Yoshiyuki Ohtomo Kenichi Satomura Hoshiro Suzuki Kunimasa Yan Yoshikazu Sado Tsuneo Morishima Hiroyuki Tanaka

BACKGROUND AND METHODS The NPHS1gene was analysed in different five Japanese patients with congenital nephrotic syndrome (CNS) from the patients in a previous report (Sako M, Nakanishi K, Obana M et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 2005; 67: 1248-1255) that suggested that the mutation of NPHS1 was not a major cause ...

Journal: :Circulation 2002
David M Flavell Yalda Jamshidi Emma Hawe Inés Pineda Torra Marja-Riitta Taskinen M Heikki Frick Markku S Nieminen Y Antero Kesäniemi Amos Pasternack Bart Staels George Miller Steve E Humphries Philippa J Talmud Mikko Syvänne

BACKGROUND Peroxisome proliferator-activated receptor alpha (PPARalpha) regulates the expression of genes involved in lipid metabolism and inflammation, making it a candidate gene for atherosclerosis and ischemic heart disease (IHD). METHODS AND RESULTS We investigated the association between the leucine 162 to valine (L162V) polymorphism and a G to C transversion in intron 7 of the PPARalpha...

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