FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2148959437> ?p ?o ?g. }

• W2148959437 endingPage "1379" @default.
• W2148959437 startingPage "1370" @default.
• W2148959437 abstract "Background & Aims: Progressive familial intrahepatic cholestasis (PFIC), an inherited liver disease of childhood, is characterized by cholestasis and either normal or increased serum γ-glutamyltransferase activity. Patients with normal γ-glutamyltransferase activity have mutations of the FIC1 locus on chromosome 18q21 or mutations of the BSEP gene on chromosome 2q24. Also, patients with bile acid synthesis defects have low γ-glutamyltransferase activity. We investigated expression of the bile salt export pump (BSEP) in liver samples from patients with a PFIC phenotype and correlated this with BSEP gene mutations.Methods: BSEP and multidrug resistance protein 2 (MRP2) expressions were studied by immunohistochemistry in liver specimens of 28 patients and BSEP gene mutation analysis in 19 patients. Bile salt kinetics were studied in 1 patient.Results: Sixteen of 28 liver samples showed no canalicular BSEP staining. Staining for MRP2 showed a normal canalicular pattern in all but 1 of these samples. Ten of 19 patients showed BSEP gene mutations; BSEP protein expression was lacking in all 10 patients. No mutations were found in 9 of 19 patients, and in all except 1, BSEP protein expression was normal. Bile salt concentration in bile of BSEP-negative/MRP2-positive PFIC patients was 0.2 ± 0.2 mmol/L (n = 9; <1% of normal) and in BSEP-positive PFIC patients 18.1 ± 9.9 mmol/L (n = 3; 40% of normal). The kinetic study confirmed the dramatic decrease of bile salt secretion in BSEP-negative patients.Conclusions: The findings show a close correlation between BSEP gene mutations and canalicular BSEP expression. Biliary secretion of bile salts is greatly reduced in BSEP-negative patients.GASTROENTEROLOGY 1999;117:1370-1379" @default.
• W2148959437 created "2016-06-24" @default.
• W2148959437 creator A5000526659 @default.
• W2148959437 creator A5008533387 @default.
• W2148959437 creator A5019715176 @default.
• W2148959437 creator A5020195686 @default.
• W2148959437 creator A5024884437 @default.
• W2148959437 creator A5027112110 @default.
• W2148959437 creator A5032174537 @default.
• W2148959437 creator A5036826846 @default.
• W2148959437 creator A5038401549 @default.
• W2148959437 creator A5042577894 @default.
• W2148959437 creator A5044957513 @default.
• W2148959437 creator A5054733758 @default.
• W2148959437 creator A5061497248 @default.
• W2148959437 creator A5075486447 @default.
• W2148959437 creator A5075625228 @default.
• W2148959437 date "1999-12-01" @default.
• W2148959437 modified "2023-10-06" @default.
• W2148959437 title "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis" @default.
• W2148959437 cites W162113137 @default.
• W2148959437 cites W1751757376 @default.
• W2148959437 cites W1974585233 @default.
• W2148959437 cites W1974599572 @default.
• W2148959437 cites W1985512747 @default.
• W2148959437 cites W2005984132 @default.
• W2148959437 cites W2009084021 @default.
• W2148959437 cites W2020451356 @default.
• W2148959437 cites W2045921037 @default.
• W2148959437 cites W2058000296 @default.
• W2148959437 cites W2061569374 @default.
• W2148959437 cites W2085302633 @default.
• W2148959437 cites W2108293406 @default.
• W2148959437 cites W2115161881 @default.
• W2148959437 cites W2133359496 @default.
• W2148959437 cites W2160486989 @default.
• W2148959437 cites W2167026550 @default.
• W2148959437 cites W2189502830 @default.
• W2148959437 cites W4294443831 @default.
• W2148959437 doi "https://doi.org/10.1016/s0016-5085(99)70287-8" @default.
• W2148959437 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10579978" @default.
• W2148959437 hasPublicationYear "1999" @default.
• W2148959437 type Work @default.
• W2148959437 sameAs 2148959437 @default.
• W2148959437 citedByCount "394" @default.
• W2148959437 countsByYear W21489594372012 @default.
• W2148959437 countsByYear W21489594372013 @default.
• W2148959437 countsByYear W21489594372014 @default.
• W2148959437 countsByYear W21489594372015 @default.
• W2148959437 countsByYear W21489594372016 @default.
• W2148959437 countsByYear W21489594372017 @default.
• W2148959437 countsByYear W21489594372018 @default.
• W2148959437 countsByYear W21489594372019 @default.
• W2148959437 countsByYear W21489594372020 @default.
• W2148959437 countsByYear W21489594372021 @default.
• W2148959437 countsByYear W21489594372022 @default.
• W2148959437 countsByYear W21489594372023 @default.
• W2148959437 crossrefType "journal-article" @default.
• W2148959437 hasAuthorship W2148959437A5000526659 @default.
• W2148959437 hasAuthorship W2148959437A5008533387 @default.
• W2148959437 hasAuthorship W2148959437A5019715176 @default.
• W2148959437 hasAuthorship W2148959437A5020195686 @default.
• W2148959437 hasAuthorship W2148959437A5024884437 @default.
• W2148959437 hasAuthorship W2148959437A5027112110 @default.
• W2148959437 hasAuthorship W2148959437A5032174537 @default.
• W2148959437 hasAuthorship W2148959437A5036826846 @default.
• W2148959437 hasAuthorship W2148959437A5038401549 @default.
• W2148959437 hasAuthorship W2148959437A5042577894 @default.
• W2148959437 hasAuthorship W2148959437A5044957513 @default.
• W2148959437 hasAuthorship W2148959437A5054733758 @default.
• W2148959437 hasAuthorship W2148959437A5061497248 @default.
• W2148959437 hasAuthorship W2148959437A5075486447 @default.
• W2148959437 hasAuthorship W2148959437A5075625228 @default.
• W2148959437 hasBestOaLocation W21489594371 @default.
• W2148959437 hasConcept C104317684 @default.
• W2148959437 hasConcept C126322002 @default.
• W2148959437 hasConcept C134018914 @default.
• W2148959437 hasConcept C149011108 @default.
• W2148959437 hasConcept C2778132995 @default.
• W2148959437 hasConcept C2778593092 @default.
• W2148959437 hasConcept C2779399885 @default.
• W2148959437 hasConcept C2779609443 @default.
• W2148959437 hasConcept C2910800957 @default.
• W2148959437 hasConcept C2911091166 @default.
• W2148959437 hasConcept C36201501 @default.
• W2148959437 hasConcept C44312359 @default.
• W2148959437 hasConcept C55493867 @default.
• W2148959437 hasConcept C71924100 @default.
• W2148959437 hasConcept C86803240 @default.
• W2148959437 hasConcept C90924648 @default.
• W2148959437 hasConceptScore W2148959437C104317684 @default.
• W2148959437 hasConceptScore W2148959437C126322002 @default.
• W2148959437 hasConceptScore W2148959437C134018914 @default.
• W2148959437 hasConceptScore W2148959437C149011108 @default.
• W2148959437 hasConceptScore W2148959437C2778132995 @default.
• W2148959437 hasConceptScore W2148959437C2778593092 @default.
• W2148959437 hasConceptScore W2148959437C2779399885 @default.
• W2148959437 hasConceptScore W2148959437C2779609443 @default.

• next