FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2947535515> ?p ?o ?g. }

• W2947535515 endingPage "1322" @default.
• W2947535515 startingPage "1312" @default.
• W2947535515 abstract "Mutations in genes encoding nucleoporins (NUPs; components of nuclear pore complexes [NPCs]), such as NUP93, have been reported to cause steroid-resistant nephrotic syndrome (SRNS) or focal segmental glomerulosclerosis (FSGS), which often progresses to end-stage renal disease (ESRD) in childhood. The expression of NUP93 in renal or extrarenal tissues, and the mechanism by which NUP93 mutations cause this renal phenotype, remain unclear.The expression of NUP93 in normal control kidney and in a patient with FSGS carrying NUP93 mutations was examined by immunofluorescence analysis. The expression of NUP93 in blood cells was analyzed by Western blot analysis.Immunofluorescence analysis detected NUP93 expression in nuclei of all glomerular and tubulointerstitial cells in human kidneys. Whole-exome sequencing identified a compound heterozygous NUP93 mutation comprising a novel missense mutation p.Arg525Trp, and a previously reported mutation, p.Tyr629Cys, in a patient with FSGS that developed ESRD at the age of 6 years. In the patient's kidney, the intensity of NUP93 immunofluorescence was significantly decreased in the nuclei of both glomerular and extraglomerular cells. The expression of CD2-associated protein (CD2AP) and nephrin in the patient's podocytes was relatively intact. The amount of NUP93 protein was not significantly altered in the peripheral blood mononuclear cells of the patient.NUP93 is expressed in the nuclei of all the cell types of the human kidney. Altered NUP93 expression in glomerular cells as well as extraglomerular cells by NUP93 mutations may underlie the pathogenic mechanism of SRNS or FSGS." @default.
• W2947535515 created "2019-06-07" @default.
• W2947535515 creator A5017557621 @default.
• W2947535515 creator A5018871494 @default.
• W2947535515 creator A5033150455 @default.
• W2947535515 creator A5035004862 @default.
• W2947535515 creator A5040802093 @default.
• W2947535515 creator A5043748739 @default.
• W2947535515 creator A5046698599 @default.
• W2947535515 creator A5055086915 @default.
• W2947535515 creator A5064833610 @default.
• W2947535515 creator A5073931276 @default.
• W2947535515 creator A5074809722 @default.
• W2947535515 creator A5075718612 @default.
• W2947535515 creator A5089106164 @default.
• W2947535515 date "2019-09-01" @default.
• W2947535515 modified "2023-10-12" @default.
• W2947535515 title "In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis" @default.
• W2947535515 cites W1175815497 @default.
• W2947535515 cites W1963687657 @default.
• W2947535515 cites W1996865276 @default.
• W2947535515 cites W1998996047 @default.
• W2947535515 cites W2030084418 @default.
• W2947535515 cites W2046540619 @default.
• W2947535515 cites W2049804001 @default.
• W2947535515 cites W2063770484 @default.
• W2947535515 cites W2067744645 @default.
• W2947535515 cites W2072876216 @default.
• W2947535515 cites W2075027707 @default.
• W2947535515 cites W2096791516 @default.
• W2947535515 cites W2103441770 @default.
• W2947535515 cites W2107015722 @default.
• W2947535515 cites W2119180969 @default.
• W2947535515 cites W2146122910 @default.
• W2947535515 cites W2149525061 @default.
• W2947535515 cites W2149980365 @default.
• W2947535515 cites W2163543028 @default.
• W2947535515 cites W2163605874 @default.
• W2947535515 cites W2171135008 @default.
• W2947535515 cites W2184157606 @default.
• W2947535515 cites W2214765442 @default.
• W2947535515 cites W2256016639 @default.
• W2947535515 cites W2278141069 @default.
• W2947535515 cites W2335825911 @default.
• W2947535515 cites W2339305198 @default.
• W2947535515 cites W2518242918 @default.
• W2947535515 cites W2550779750 @default.
• W2947535515 cites W2564335181 @default.
• W2947535515 cites W2578839107 @default.
• W2947535515 cites W2739866940 @default.
• W2947535515 cites W2766974811 @default.
• W2947535515 cites W2767557721 @default.
• W2947535515 cites W2783430372 @default.
• W2947535515 cites W2804822363 @default.
• W2947535515 cites W2805305232 @default.
• W2947535515 cites W2807533319 @default.
• W2947535515 cites W2884408308 @default.
• W2947535515 doi "https://doi.org/10.1016/j.ekir.2019.05.1157" @default.
• W2947535515 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6732778" @default.
• W2947535515 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31517150" @default.
• W2947535515 hasPublicationYear "2019" @default.
• W2947535515 type Work @default.
• W2947535515 sameAs 2947535515 @default.
• W2947535515 citedByCount "10" @default.
• W2947535515 countsByYear W29475355152020 @default.
• W2947535515 countsByYear W29475355152021 @default.
• W2947535515 countsByYear W29475355152022 @default.
• W2947535515 countsByYear W29475355152023 @default.
• W2947535515 crossrefType "journal-article" @default.
• W2947535515 hasAuthorship W2947535515A5017557621 @default.
• W2947535515 hasAuthorship W2947535515A5018871494 @default.
• W2947535515 hasAuthorship W2947535515A5033150455 @default.
• W2947535515 hasAuthorship W2947535515A5035004862 @default.
• W2947535515 hasAuthorship W2947535515A5040802093 @default.
• W2947535515 hasAuthorship W2947535515A5043748739 @default.
• W2947535515 hasAuthorship W2947535515A5046698599 @default.
• W2947535515 hasAuthorship W2947535515A5055086915 @default.
• W2947535515 hasAuthorship W2947535515A5064833610 @default.
• W2947535515 hasAuthorship W2947535515A5073931276 @default.
• W2947535515 hasAuthorship W2947535515A5074809722 @default.
• W2947535515 hasAuthorship W2947535515A5075718612 @default.
• W2947535515 hasAuthorship W2947535515A5089106164 @default.
• W2947535515 hasBestOaLocation W29475355151 @default.
• W2947535515 hasConcept C104317684 @default.
• W2947535515 hasConcept C126322002 @default.
• W2947535515 hasConcept C127716648 @default.
• W2947535515 hasConcept C137061746 @default.
• W2947535515 hasConcept C142724271 @default.
• W2947535515 hasConcept C159654299 @default.
• W2947535515 hasConcept C202751555 @default.
• W2947535515 hasConcept C203014093 @default.
• W2947535515 hasConcept C2776415932 @default.
• W2947535515 hasConcept C2777146197 @default.
• W2947535515 hasConcept C2777390665 @default.
• W2947535515 hasConcept C2778236600 @default.
• W2947535515 hasConcept C2778415529 @default.
• W2947535515 hasConcept C2778930706 @default.
• W2947535515 hasConcept C2779561371 @default.

• next