FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2107175020> ?p ?o ?g. }

• W2107175020 endingPage "1586" @default.
• W2107175020 startingPage "1571" @default.
• W2107175020 abstract "Heterozygous mutations in PKD1 or PKD2, which encode polycystin-1 (PC1) and polycystin-2 (PC2), respectively, cause autosomal dominant PKD (ADPKD), whereas mutations in PKHD1, which encodes fibrocystin/polyductin (FPC), cause autosomal recessive PKD (ARPKD). However, the relationship between these proteins and the pathogenesis of PKD remains unclear. To model PKD in human cells, we established induced pluripotent stem (iPS) cell lines from fibroblasts of three ADPKD and two ARPKD patients. Genetic sequencing revealed unique heterozygous mutations in PKD1 of the parental ADPKD fibroblasts but no pathogenic mutations in PKD2. Undifferentiated PKD iPS cells, control iPS cells, and embryonic stem cells elaborated primary cilia and expressed PC1, PC2, and FPC at similar levels, and PKD and control iPS cells exhibited comparable rates of proliferation, apoptosis, and ciliogenesis. However, ADPKD iPS cells as well as somatic epithelial cells and hepatoblasts/biliary precursors differentiated from these cells expressed lower levels of PC2 at the cilium. Additional sequencing confirmed the retention of PKD1 heterozygous mutations in iPS cell lines from two patients but identified possible loss of heterozygosity in iPS cell lines from one patient. Furthermore, ectopic expression of wild-type PC1 in ADPKD iPS-derived hepatoblasts rescued ciliary PC2 protein expression levels, and overexpression of PC1 but not a carboxy-terminal truncation mutant increased ciliary PC2 expression levels in mouse kidney cells. Taken together, these results suggest that PC1 regulates ciliary PC2 protein expression levels and support the use of PKD iPS cells for investigating disease pathophysiology." @default.
• W2107175020 created "2016-06-24" @default.
• W2107175020 creator A5002238355 @default.
• W2107175020 creator A5007980266 @default.
• W2107175020 creator A5015695707 @default.
• W2107175020 creator A5016897811 @default.
• W2107175020 creator A5023720090 @default.
• W2107175020 creator A5024940688 @default.
• W2107175020 creator A5033024314 @default.
• W2107175020 creator A5043567056 @default.
• W2107175020 creator A5087351560 @default.
• W2107175020 creator A5089043211 @default.
• W2107175020 creator A5089781525 @default.
• W2107175020 date "2013-10-01" @default.
• W2107175020 modified "2023-10-14" @default.
• W2107175020 title "Reduced Ciliary Polycystin-2 in Induced Pluripotent Stem Cells from Polycystic Kidney Disease Patients with PKD1 Mutations" @default.
• W2107175020 cites W1492104840 @default.
• W2107175020 cites W1592205452 @default.
• W2107175020 cites W1959400241 @default.
• W2107175020 cites W1991947898 @default.
• W2107175020 cites W1992960888 @default.
• W2107175020 cites W1993638375 @default.
• W2107175020 cites W1999914688 @default.
• W2107175020 cites W2013002334 @default.
• W2107175020 cites W2013374135 @default.
• W2107175020 cites W2014604277 @default.
• W2107175020 cites W2058889865 @default.
• W2107175020 cites W2059378220 @default.
• W2107175020 cites W2063092306 @default.
• W2107175020 cites W2071341647 @default.
• W2107175020 cites W2080853555 @default.
• W2107175020 cites W2086937811 @default.
• W2107175020 cites W2088811685 @default.
• W2107175020 cites W2095708619 @default.
• W2107175020 cites W2095869636 @default.
• W2107175020 cites W2100704215 @default.
• W2107175020 cites W2101736621 @default.
• W2107175020 cites W2104243614 @default.
• W2107175020 cites W2119200120 @default.
• W2107175020 cites W2121601246 @default.
• W2107175020 cites W2122972941 @default.
• W2107175020 cites W2123474135 @default.
• W2107175020 cites W2125987139 @default.
• W2107175020 cites W2126569376 @default.
• W2107175020 cites W2129233033 @default.
• W2107175020 cites W2138714101 @default.
• W2107175020 cites W2142227033 @default.
• W2107175020 cites W2147323130 @default.
• W2107175020 cites W2150360143 @default.
• W2107175020 cites W2155338653 @default.
• W2107175020 cites W2164612151 @default.
• W2107175020 cites W2164628127 @default.
• W2107175020 cites W2167847400 @default.
• W2107175020 cites W2168250872 @default.
• W2107175020 cites W2208612547 @default.
• W2107175020 doi "https://doi.org/10.1681/asn.2012111089" @default.
• W2107175020 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3785271" @default.
• W2107175020 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24009235" @default.
• W2107175020 hasPublicationYear "2013" @default.
• W2107175020 type Work @default.
• W2107175020 sameAs 2107175020 @default.
• W2107175020 citedByCount "103" @default.
• W2107175020 countsByYear W21071750202013 @default.
• W2107175020 countsByYear W21071750202014 @default.
• W2107175020 countsByYear W21071750202015 @default.
• W2107175020 countsByYear W21071750202016 @default.
• W2107175020 countsByYear W21071750202017 @default.
• W2107175020 countsByYear W21071750202018 @default.
• W2107175020 countsByYear W21071750202019 @default.
• W2107175020 countsByYear W21071750202020 @default.
• W2107175020 countsByYear W21071750202021 @default.
• W2107175020 countsByYear W21071750202022 @default.
• W2107175020 countsByYear W21071750202023 @default.
• W2107175020 crossrefType "journal-article" @default.
• W2107175020 hasAuthorship W2107175020A5002238355 @default.
• W2107175020 hasAuthorship W2107175020A5007980266 @default.
• W2107175020 hasAuthorship W2107175020A5015695707 @default.
• W2107175020 hasAuthorship W2107175020A5016897811 @default.
• W2107175020 hasAuthorship W2107175020A5023720090 @default.
• W2107175020 hasAuthorship W2107175020A5024940688 @default.
• W2107175020 hasAuthorship W2107175020A5033024314 @default.
• W2107175020 hasAuthorship W2107175020A5043567056 @default.
• W2107175020 hasAuthorship W2107175020A5087351560 @default.
• W2107175020 hasAuthorship W2107175020A5089043211 @default.
• W2107175020 hasAuthorship W2107175020A5089781525 @default.
• W2107175020 hasBestOaLocation W21071750201 @default.
• W2107175020 hasConcept C100094513 @default.
• W2107175020 hasConcept C100773827 @default.
• W2107175020 hasConcept C104317684 @default.
• W2107175020 hasConcept C107459253 @default.
• W2107175020 hasConcept C145103041 @default.
• W2107175020 hasConcept C153911025 @default.
• W2107175020 hasConcept C195267511 @default.
• W2107175020 hasConcept C2776266639 @default.
• W2107175020 hasConcept C2780091579 @default.
• W2107175020 hasConcept C2780145431 @default.
• W2107175020 hasConcept C28328180 @default.
• W2107175020 hasConcept C502942594 @default.

• next