FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2810769894> ?p ?o ?g. }

• W2810769894 endingPage "2431" @default.
• W2810769894 startingPage "2418" @default.
• W2810769894 abstract "Background Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene ( MUC1 ) mutations (ADTKD- MUC1 ) is characterized by progressive kidney failure. Genetic evaluation for ADTKD- MUC1 specifically tests for a cytosine duplication that creates a unique frameshift protein (MUC1fs). Our goal was to develop immunohistochemical methods to detect the MUC1fs created by the cytosine duplication and, possibly, by other similar frameshift mutations and to identify novel MUC1 mutations in individuals with positive immunohistochemical staining for the MUC1fs protein. Methods We performed MUC1fs immunostaining on urinary cell smears and various tissues from ADTKD- MUC1– positive and –negative controls as well as in individuals from 37 ADTKD families that were negative for mutations in known ADTKD genes. We used novel analytic methods to identify MUC1 frameshift mutations. Results After technique refinement, the sensitivity and specificity for MUC1fs immunostaining of urinary cell smears were 94.2% and 88.6%, respectively. Further genetic testing on 17 families with positive MUC1fs immunostaining revealed six families with five novel MUC1 frameshift mutations that all predict production of the identical MUC1fs protein. Conclusions We developed a noninvasive immunohistochemical method to detect MUC1fs that, after further validation, may be useful in the future for diagnostic testing. Production of the MUC1fs protein may be central to the pathogenesis of ADTKD- MUC1 ." @default.
• W2810769894 created "2018-07-10" @default.
• W2810769894 creator A5000274401 @default.
• W2810769894 creator A5000925269 @default.
• W2810769894 creator A5005949029 @default.
• W2810769894 creator A5007587640 @default.
• W2810769894 creator A5009236589 @default.
• W2810769894 creator A5010058540 @default.
• W2810769894 creator A5010974782 @default.
• W2810769894 creator A5011058943 @default.
• W2810769894 creator A5014312110 @default.
• W2810769894 creator A5017569254 @default.
• W2810769894 creator A5020543068 @default.
• W2810769894 creator A5023217285 @default.
• W2810769894 creator A5025797683 @default.
• W2810769894 creator A5030012032 @default.
• W2810769894 creator A5030831068 @default.
• W2810769894 creator A5036908261 @default.
• W2810769894 creator A5038688763 @default.
• W2810769894 creator A5039241874 @default.
• W2810769894 creator A5043967005 @default.
• W2810769894 creator A5057612450 @default.
• W2810769894 creator A5062538098 @default.
• W2810769894 creator A5067998740 @default.
• W2810769894 creator A5070130172 @default.
• W2810769894 creator A5071704552 @default.
• W2810769894 creator A5074560478 @default.
• W2810769894 creator A5076250170 @default.
• W2810769894 creator A5077564795 @default.
• W2810769894 creator A5077812685 @default.
• W2810769894 creator A5081220653 @default.
• W2810769894 creator A5085140166 @default.
• W2810769894 creator A5085608539 @default.
• W2810769894 creator A5087532964 @default.
• W2810769894 date "2018-07-02" @default.
• W2810769894 modified "2023-10-17" @default.
• W2810769894 title "Noninvasive Immunohistochemical Diagnosis and Novel <i>MUC1</i> Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease" @default.
• W2810769894 cites W1965071252 @default.
• W2810769894 cites W2016768803 @default.
• W2810769894 cites W2027233329 @default.
• W2810769894 cites W2035025829 @default.
• W2810769894 cites W2045171990 @default.
• W2810769894 cites W2055043387 @default.
• W2810769894 cites W2064023182 @default.
• W2810769894 cites W2071767704 @default.
• W2810769894 cites W2073983186 @default.
• W2810769894 cites W2121112464 @default.
• W2810769894 cites W2122084492 @default.
• W2810769894 cites W2178887149 @default.
• W2810769894 cites W2347114388 @default.
• W2810769894 cites W2471427314 @default.
• W2810769894 cites W2592111475 @default.
• W2810769894 cites W2620854968 @default.
• W2810769894 cites W2775230765 @default.
• W2810769894 cites W2789393622 @default.
• W2810769894 cites W2790911965 @default.
• W2810769894 cites W2791044349 @default.
• W2810769894 cites W4236236547 @default.
• W2810769894 cites W2289664241 @default.
• W2810769894 doi "https://doi.org/10.1681/asn.2018020180" @default.
• W2810769894 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6115665" @default.
• W2810769894 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29967284" @default.
• W2810769894 hasPublicationYear "2018" @default.
• W2810769894 type Work @default.
• W2810769894 sameAs 2810769894 @default.
• W2810769894 citedByCount "35" @default.
• W2810769894 countsByYear W28107698942018 @default.
• W2810769894 countsByYear W28107698942019 @default.
• W2810769894 countsByYear W28107698942020 @default.
• W2810769894 countsByYear W28107698942021 @default.
• W2810769894 countsByYear W28107698942022 @default.
• W2810769894 countsByYear W28107698942023 @default.
• W2810769894 crossrefType "journal-article" @default.
• W2810769894 hasAuthorship W2810769894A5000274401 @default.
• W2810769894 hasAuthorship W2810769894A5000925269 @default.
• W2810769894 hasAuthorship W2810769894A5005949029 @default.
• W2810769894 hasAuthorship W2810769894A5007587640 @default.
• W2810769894 hasAuthorship W2810769894A5009236589 @default.
• W2810769894 hasAuthorship W2810769894A5010058540 @default.
• W2810769894 hasAuthorship W2810769894A5010974782 @default.
• W2810769894 hasAuthorship W2810769894A5011058943 @default.
• W2810769894 hasAuthorship W2810769894A5014312110 @default.
• W2810769894 hasAuthorship W2810769894A5017569254 @default.
• W2810769894 hasAuthorship W2810769894A5020543068 @default.
• W2810769894 hasAuthorship W2810769894A5023217285 @default.
• W2810769894 hasAuthorship W2810769894A5025797683 @default.
• W2810769894 hasAuthorship W2810769894A5030012032 @default.
• W2810769894 hasAuthorship W2810769894A5030831068 @default.
• W2810769894 hasAuthorship W2810769894A5036908261 @default.
• W2810769894 hasAuthorship W2810769894A5038688763 @default.
• W2810769894 hasAuthorship W2810769894A5039241874 @default.
• W2810769894 hasAuthorship W2810769894A5043967005 @default.
• W2810769894 hasAuthorship W2810769894A5057612450 @default.
• W2810769894 hasAuthorship W2810769894A5062538098 @default.
• W2810769894 hasAuthorship W2810769894A5067998740 @default.
• W2810769894 hasAuthorship W2810769894A5070130172 @default.
• W2810769894 hasAuthorship W2810769894A5071704552 @default.
• W2810769894 hasAuthorship W2810769894A5074560478 @default.

• next