Matches in SemOpenAlex for { <https://semopenalex.org/work/W2912561251> ?p ?o ?g. }
- W2912561251 abstract "Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder. As a result, 146 peptides were found to be associated with RCAD in 22 pediatric patients when compared to 22 healthy age-matched controls. A classifier based on these peptides was generated and further tested on an independent cohort, clearly discriminating RCAD patients from different groups of controls. This study demonstrates that the urinary proteome of pediatric RCAD patients differs from autosomal dominant polycystic kidney disease (PKD1, PKD2), congenital nephrotic syndrome (NPHS1, NPHS2, NPHS4, NPHS9) as well as from chronic kidney disease conditions, suggesting differences between the pathophysiology behind these disorders." @default.
- W2912561251 created "2019-02-21" @default.
- W2912561251 creator A5005845648 @default.
- W2912561251 creator A5009141968 @default.
- W2912561251 creator A5023556434 @default.
- W2912561251 creator A5036686390 @default.
- W2912561251 creator A5037138303 @default.
- W2912561251 creator A5038547566 @default.
- W2912561251 creator A5045346228 @default.
- W2912561251 creator A5045803218 @default.
- W2912561251 creator A5046179426 @default.
- W2912561251 creator A5048953857 @default.
- W2912561251 creator A5052560289 @default.
- W2912561251 creator A5060428160 @default.
- W2912561251 creator A5072330243 @default.
- W2912561251 creator A5076491476 @default.
- W2912561251 creator A5079062122 @default.
- W2912561251 creator A5086701098 @default.
- W2912561251 creator A5090197441 @default.
- W2912561251 creator A5091055995 @default.
- W2912561251 date "2019-02-18" @default.
- W2912561251 modified "2023-10-17" @default.
- W2912561251 title "Urinary proteome signature of Renal Cysts and Diabetes syndrome in children" @default.
- W2912561251 cites W1504423993 @default.
- W2912561251 cites W1684727510 @default.
- W2912561251 cites W1830615932 @default.
- W2912561251 cites W1965032910 @default.
- W2912561251 cites W1966862542 @default.
- W2912561251 cites W1968769388 @default.
- W2912561251 cites W1970252549 @default.
- W2912561251 cites W1970336842 @default.
- W2912561251 cites W1982103636 @default.
- W2912561251 cites W1991626886 @default.
- W2912561251 cites W1992271070 @default.
- W2912561251 cites W1996275029 @default.
- W2912561251 cites W2004799239 @default.
- W2912561251 cites W2006761672 @default.
- W2912561251 cites W2008428500 @default.
- W2912561251 cites W2008679807 @default.
- W2912561251 cites W2010175738 @default.
- W2912561251 cites W2010252933 @default.
- W2912561251 cites W2010595044 @default.
- W2912561251 cites W2014372468 @default.
- W2912561251 cites W2015969984 @default.
- W2912561251 cites W2017396420 @default.
- W2912561251 cites W2028176752 @default.
- W2912561251 cites W2028509886 @default.
- W2912561251 cites W2029457763 @default.
- W2912561251 cites W2034088244 @default.
- W2912561251 cites W2035540717 @default.
- W2912561251 cites W2046122623 @default.
- W2912561251 cites W2061202064 @default.
- W2912561251 cites W2068086594 @default.
- W2912561251 cites W2071095150 @default.
- W2912561251 cites W2075911589 @default.
- W2912561251 cites W2095746428 @default.
- W2912561251 cites W2096188387 @default.
- W2912561251 cites W2098823303 @default.
- W2912561251 cites W2101853571 @default.
- W2912561251 cites W2104529068 @default.
- W2912561251 cites W2108579114 @default.
- W2912561251 cites W2110065044 @default.
- W2912561251 cites W2111937142 @default.
- W2912561251 cites W2112863669 @default.
- W2912561251 cites W2117925356 @default.
- W2912561251 cites W2122855609 @default.
- W2912561251 cites W2123299577 @default.
- W2912561251 cites W2127776736 @default.
- W2912561251 cites W2128115913 @default.
- W2912561251 cites W2134359127 @default.
- W2912561251 cites W2134844061 @default.
- W2912561251 cites W2139662943 @default.
- W2912561251 cites W2140331829 @default.
- W2912561251 cites W2143616363 @default.
- W2912561251 cites W2149988067 @default.
- W2912561251 cites W2155965977 @default.
- W2912561251 cites W2160107498 @default.
- W2912561251 cites W2164370129 @default.
- W2912561251 cites W2165801360 @default.
- W2912561251 cites W2168831278 @default.
- W2912561251 cites W2171644510 @default.
- W2912561251 cites W2178887149 @default.
- W2912561251 cites W2442132286 @default.
- W2912561251 cites W2443865480 @default.
- W2912561251 cites W2466735922 @default.
- W2912561251 cites W2529160875 @default.
- W2912561251 cites W2605287594 @default.
- W2912561251 cites W2606299150 @default.
- W2912561251 cites W2607031541 @default.
- W2912561251 cites W2770660972 @default.
- W2912561251 cites W2790203135 @default.
- W2912561251 cites W2795669714 @default.
- W2912561251 cites W2887346116 @default.
- W2912561251 doi "https://doi.org/10.1038/s41598-019-38713-5" @default.
- W2912561251 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6379363" @default.
- W2912561251 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30778115" @default.
- W2912561251 hasPublicationYear "2019" @default.
- W2912561251 type Work @default.
- W2912561251 sameAs 2912561251 @default.
- W2912561251 citedByCount "15" @default.