FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2272007478> ?p ?o ?g. }

• W2272007478 endingPage "539" @default.
• W2272007478 startingPage "532" @default.
• W2272007478 abstract "Abstract Bernard-Soulier syndrome is a rare bleeding disorder caused by a quantitative or qualitative defect in the platelet glycoprotein (GP) Ib-IX-V complex. The complex, which serves as a platelet receptor for von Willebrand factor, is composed of 4 subunits: GPIb, GPIbβ, GPIX, and GPV. We here describe the molecular basis of a novel form of Bernard-Soulier syndrome in a patient in whom the components of the GPIb-IX-V complex were undetectable on the platelet surface. Although confocal imaging confirmed that GPIb was not present on the platelet surface, GPIb was readily detectable in the patient's platelets. Moreover, immunoprecipitation of plasma with specific monoclonal antibodies identified circulating, soluble GPIb. DNA-sequence analysis revealed normal sequences for GPIb and GPIX. There was a G to A substitution at position 159 of the gene encoding GPIbβ, resulting in a premature termination of translation at amino acid 21. Studies of transient coexpression of this mutant, W21stop-GPIbβ, together with wild-type GPIb and GPIX, demonstrated a failure of GPIX expression on the surface of HEK 293T cells. Similar results were obtained with Chinese hamster ovary  IX cells, a stable cell line expressing GPIb that retains the capacity to re-express GPIX. Thus, we found that GPIbβ affects the surface expression of the GPIb-IX complex by failing to support the insertion of GPIb and GPIX into the platelet membrane." @default.
• W2272007478 created "2016-06-24" @default.
• W2272007478 creator A5017332866 @default.
• W2272007478 creator A5021845768 @default.
• W2272007478 creator A5044212481 @default.
• W2272007478 creator A5058650782 @default.
• W2272007478 creator A5062313473 @default.
• W2272007478 creator A5068359313 @default.
• W2272007478 creator A5086344982 @default.
• W2272007478 date "2000-07-15" @default.
• W2272007478 modified "2023-10-15" @default.
• W2272007478 title "Surface expression of glycoprotein Ibα is dependent on glycoprotein Ibβ: evidence from a novel mutation causing Bernard-Soulier syndrome" @default.
• W2272007478 cites W102731567 @default.
• W2272007478 cites W1494624398 @default.
• W2272007478 cites W1526058544 @default.
• W2272007478 cites W1531681292 @default.
• W2272007478 cites W1535032041 @default.
• W2272007478 cites W1583532819 @default.
• W2272007478 cites W1616494231 @default.
• W2272007478 cites W1970283521 @default.
• W2272007478 cites W1971290197 @default.
• W2272007478 cites W1983827472 @default.
• W2272007478 cites W1988095542 @default.
• W2272007478 cites W1995939126 @default.
• W2272007478 cites W1997521650 @default.
• W2272007478 cites W2002667426 @default.
• W2272007478 cites W2015454903 @default.
• W2272007478 cites W202701716 @default.
• W2272007478 cites W2043083034 @default.
• W2272007478 cites W2055089120 @default.
• W2272007478 cites W2059983288 @default.
• W2272007478 cites W2062581256 @default.
• W2272007478 cites W2064321549 @default.
• W2272007478 cites W206565180 @default.
• W2272007478 cites W2076914276 @default.
• W2272007478 cites W2077428330 @default.
• W2272007478 cites W2083482242 @default.
• W2272007478 cites W2092422296 @default.
• W2272007478 cites W2121530981 @default.
• W2272007478 cites W2121698778 @default.
• W2272007478 cites W2165918134 @default.
• W2272007478 cites W2184476538 @default.
• W2272007478 cites W2195745009 @default.
• W2272007478 cites W2258576915 @default.
• W2272007478 cites W2343450848 @default.
• W2272007478 cites W2412066842 @default.
• W2272007478 cites W24454078 @default.
• W2272007478 cites W4296569483 @default.
• W2272007478 cites W4300548704 @default.
• W2272007478 doi "https://doi.org/10.1182/blood.v96.2.532" @default.
• W2272007478 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10887115" @default.
• W2272007478 hasPublicationYear "2000" @default.
• W2272007478 type Work @default.
• W2272007478 sameAs 2272007478 @default.
• W2272007478 citedByCount "47" @default.
• W2272007478 countsByYear W22720074782013 @default.
• W2272007478 countsByYear W22720074782014 @default.
• W2272007478 countsByYear W22720074782017 @default.
• W2272007478 countsByYear W22720074782018 @default.
• W2272007478 countsByYear W22720074782023 @default.
• W2272007478 crossrefType "journal-article" @default.
• W2272007478 hasAuthorship W2272007478A5017332866 @default.
• W2272007478 hasAuthorship W2272007478A5021845768 @default.
• W2272007478 hasAuthorship W2272007478A5044212481 @default.
• W2272007478 hasAuthorship W2272007478A5058650782 @default.
• W2272007478 hasAuthorship W2272007478A5062313473 @default.
• W2272007478 hasAuthorship W2272007478A5068359313 @default.
• W2272007478 hasAuthorship W2272007478A5086344982 @default.
• W2272007478 hasConcept C104317684 @default.
• W2272007478 hasConcept C108625454 @default.
• W2272007478 hasConcept C153911025 @default.
• W2272007478 hasConcept C170493617 @default.
• W2272007478 hasConcept C174510640 @default.
• W2272007478 hasConcept C175656101 @default.
• W2272007478 hasConcept C185592680 @default.
• W2272007478 hasConcept C203014093 @default.
• W2272007478 hasConcept C26828662 @default.
• W2272007478 hasConcept C2778212984 @default.
• W2272007478 hasConcept C2778442980 @default.
• W2272007478 hasConcept C2779394231 @default.
• W2272007478 hasConcept C2910542480 @default.
• W2272007478 hasConcept C2910597130 @default.
• W2272007478 hasConcept C3018697912 @default.
• W2272007478 hasConcept C54355233 @default.
• W2272007478 hasConcept C86803240 @default.
• W2272007478 hasConcept C89560881 @default.
• W2272007478 hasConceptScore W2272007478C104317684 @default.
• W2272007478 hasConceptScore W2272007478C108625454 @default.
• W2272007478 hasConceptScore W2272007478C153911025 @default.
• W2272007478 hasConceptScore W2272007478C170493617 @default.
• W2272007478 hasConceptScore W2272007478C174510640 @default.
• W2272007478 hasConceptScore W2272007478C175656101 @default.
• W2272007478 hasConceptScore W2272007478C185592680 @default.
• W2272007478 hasConceptScore W2272007478C203014093 @default.
• W2272007478 hasConceptScore W2272007478C26828662 @default.
• W2272007478 hasConceptScore W2272007478C2778212984 @default.
• W2272007478 hasConceptScore W2272007478C2778442980 @default.
• W2272007478 hasConceptScore W2272007478C2779394231 @default.

• next