نتایج جستجو برای: nphs2
تعداد نتایج: 351 فیلتر نتایج به سال:
Novel Mutations in NPHS2 Detected in Both Familial and Sporadic Steroid-Resistant Nephrotic Syndrome
Notch pathway activation in podocytes has been shown to play an important role in diabetic kidney disease (DKD) development; however, the receptors and ligands involved in the process have not been identified. Here, we report that conditional deletion of Notch1 in podocytes using NPHS2(cre)Notch1(flox/flox) animals resulted in marked amelioration of DKD. On the contrary, podocyte-specific genet...
Linus A Völker ([email protected]) Eva-Maria Schurek ([email protected]) Judit Tax ([email protected]) Barbara A Schutte ([email protected]) Tobias Lamkemeyer ([email protected]) Denise Ungrue ([email protected]) Bernhard Schermer ([email protected]) Thomas Benzing ([email protected]) Martin Höhne (martin.hoehne@uk-koeln...
Studies of Mendelian forms of focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome have provided new insights into the mechanism of these diseases. Congenital nephrotic syndrome and familial forms of FSGS form a spectrum of podocyte diseases of varying severity and age of onset. Mutations in both nephrin gene (NPHS1) alleles lead to congenital nephrosis, podocyte foot process efacem...
great majority of our patients presented the same 419delG mutation that also produce a truncate protein, and may be comparable with the above defect. Lack of heart defects in the majority of our patients lessens the likelihood of the podocin protein defect being associated with cardiac defects. We suggest re-evaluation of the association, because it cannot be excluded that in the Frishberg stud...
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