Results 51 to 60 of about 7,104 (202)
Characterization of a short isoform of the kidney protein podocin in human kidney [PDF]
, 2013 BACKGROUND: Steroid resistant nephrotic syndrome is a severe hereditary disease often caused by mutations in the NPHS2 gene. This gene encodes the lipid binding protein podocin which localizes to the slit diaphragm of podocytes and is essential for the ...
Barbara A Schutte +9 more
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Characterization of novel glomerular proteins : role in physiology and disease [PDF]
, 2014 Glomerular damage accounts for the majority of chronic kidney disease cases, the prevalence of which is dramatically escalating worldwide, mainly due to increase in diabetes and associated nephropathy.
Andersson, Ann-Charlotte
core +1 more source
NPHS2 (Podocin) Mutations in Nephrotic Syndrome. Clinical Spectrum and Fine Mechanisms [PDF]
Pediatric Research, 2005 Nephrotic syndrome (NS) is the most frequent cause of proteinuria in children and is emerging as a leading cause of uremia. Molecular studies in families with recessive NS have led to the discovery of specialized molecules endowed in podocytes that play a role in proteinuria.
Caridi, Gianluca +2 more
openaire +3 more sources
CASE OF NON-SEVERE CONGENITAL NEPHROTIC SYNDROME
Педиатрическая фармакология, 2014 Nephrotic syndrome is a severe renal disease that may result in the end-stage renal failure despite the extent of proteinuria. Prognosis and tactics of therapy of nephrotic syndrome depend both on the morphological diagnosis and on the cause of the ...
I. S. Kostushina +6 more
doaj +1 more source
Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing [PDF]
, 2014 The haploid human genome is composed of three billion base pairs, about one percent of which consists of exonic regions, the coding sequence for functional proteins, also now known as the “exome”.
Barua, Moumita +2 more
core +1 more source
Molecules, 2020 High complexity of cell and tissue proteomes limits the investigation of proteomic biomarkers. Therefore, the methods of enrichment of some chemical groups of peptides including thiopeptides are important tools that may facilitate the proteomic analysis ...
Remigiusz Bąchor +8 more
doaj +1 more source
Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population [PDF]
, 2013 Hereditary nephrotic syndrome is caused by mutations in a number of different genes, the most common being NPHS2. The aim of the study was to identify the spectrum of NPHS2 mutations in Polish patients with the disease.
Agnieszka Firszt-Adamczyk +20 more
core +2 more sources
European Journal of Cell BiologyNephrotic syndrome is frequently associated with pathogenic variants in NPHS2 (podocin), including the common and severe R138Q substitution. Using conditionally immortalized human podocytes expressing Myc-tagged podocin variants (G92C, V180M, R138Q ...
Pei-Chen Lu +6 more
doaj +1 more source
Hypertension in Pregnancy, 2020 Aim The study explored the beneficial effects of repeated episodes of whole body hypoxic perconditioning (WHPC) on preeclampsia (PE)-like symptoms in rats.
Yan Li +3 more
doaj +1 more source
Podocin-Green Fluorescence Protein Allows Visualization and Functional Analysis of Podocytes [PDF]
Journal of the American Society of Nephrology, 2011 Podocytes do not remain fully differentiated when cultured, and they are difficult to image in vivo, making the study of podocyte biology challenging. Zebrafish embryos are transparent and develop a single, midline, pronephric glomerulus accessible for imaging and systematic functional analysis.
Bing, He +4 more
openaire +2 more sources