FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2995502384> ?p ?o ?g. }

• W2995502384 abstract "A 36-year-old female (Wo) delivered a full-term girl in the 40th week of gestation with no signs of bleeding. Her neonatal platelet count was 29 G/L (dropping to 20 G/L), and fetal-neonatal alloimmune thrombocytopenia (FNAIT) was suspected. In the serological work-up, no anti-platelet antibodies were detectable using PAK Lx (Immucor Medizinische Diagnostik). Genetic testing did not reveal incompatibility for HPA-1, -2, -3, -4, -5, -6, -9 and -15. Two years later, Mrs. Wo gave birth to a white European full-term boy in the 39th week of gestation, again with no signs of bleeding. The neonatal platelet count was 31 G/L. Platelet antibody testing in the monoclonal antibody of platelet specific antigens (MAIPA) assay using random donor platelets was negative. In contrast, a MAIPA cross-match analysis between maternal serum and paternal platelets showed positive reactions with αIIbβ3, indicating an alloimmunization against a low-frequency antigen. On Day 1, the newborn was transfused with random donor platelets. The platelet count rose to 170 G/L, remained above 50 G/L without further transfusions, and was in normal range at Day 28. Full-length sequencing of ITGA2B and ITGB3 was carried out as described previously.1 Briefly, coding regions of paternal genomic DNA were PCR amplified with primers corresponding to intronic sequence surrounding all exons. PCR was carried out using a Fast-Start High Fidelity PCR system (Roche Diagnostic Corp.). Automated sequence analysis was performed in both directions on a genetic analyzer (ABI 3100, Applied Biosystems). Nucleotide sequences of PCR primers, sequencing, and reaction conditions are available upon request. Full-length β3 cDNA encoding for the Woa variant was produced by site-directed mutagenesis using the Quick Change Mutagenesis Kit (Stratagene) as previously described.2 Allele specific constructs encoding wild-type β3 (Gln132) or mutant β3 (Arg132) were transfected into HEK 293F cells, together with an αIIb construct. Surface expression of αIIbβ3 was measured by flow cytometry (FACS Canto II, Becton Dickinson), as outlined previously.2 To confirm that p.Gln132Arg is responsible for the formation of the Woa epitope, 3 x 105 transfected cells per well were used in a modified MAIPA.3 Sequencing ITGB3 from paternal DNA showed the presence of a nucleotide substitution c.473A > G located in exon 4 of ITGB3 (Fig. 1A). This mutation predicts Gln (CAG) at position 132 in Woa-negative and Arg (CGG) in Woa-positive individuals (p.Gln132Arg). The mutation was deposited in GenBank (accession number MN624129). No sequence variation was detected in ITGA2B. The ITGB3 c.473A > G mutation was also detectable in heterozygous state when sequencing DNA from the newborn. In a glycoprotein specific assay (Fig. 1B), HEK 293F cells expressing αIIb in complex with either wild-type (Gln132) or mutant (Arg132) β3 were incubated with maternal serum, healthy control donor serum, or serum containing anti-HPA-1a antibodies, demonstrating the specific recognition of p.Gln132Arg by anti-Woa. Summary data from the Exome Aggregation Consortium indicate allele frequencies of 0.99999 for ITGB3 c.473A and 0.00001 for ITGB3 c.473G.4 We observed a case of FNAIT in a newborn with a platelet count of 31 G/L. Serological analysis of the maternal serum revealed an immunization against αIIbβ3 on paternal platelets only, indicating the presence of an antibody against a rare alloantigen. Sequencing analysis and studies with mutant transfected cells showed that ITGB3 c.473A > G (p.Gln132Arg) is responsible for the formation of a new antigenic determinant on β3, termed Woa. The antibody was overlooked in the initial work-up of the elder sibling where no cross-match study was performed. This demonstrates once more that a serological cross-match between paternal platelets and maternal serum should always be performed whenever FNAIT is suspected. The excellent technical support from Lida Röder and Heike Berghöfer, Giessen, Germany, is highly acknowledged. The authors also like to thank Dr. Brian Curtis, Platelet & Neutrophil Immunology Laboratory at Versiti Diagnostic Labs, Milwaukee, WI, USA, who confirmed the presence of Woa both genetically and serologically." @default.
• W2995502384 created "2019-12-26" @default.
• W2995502384 creator A5005506984 @default.
• W2995502384 creator A5012568958 @default.
• W2995502384 creator A5014537195 @default.
• W2995502384 creator A5043778194 @default.
• W2995502384 creator A5054097770 @default.
• W2995502384 creator A5066903285 @default.
• W2995502384 creator A5068345062 @default.
• W2995502384 creator A5069471371 @default.
• W2995502384 date "2019-12-20" @default.
• W2995502384 modified "2023-09-26" @default.
• W2995502384 title "A point mutation c.473A > G of ITGB3 is responsible for the formation of the Wo a human platelet alloantigen" @default.
• W2995502384 cites W1961921541 @default.
• W2995502384 cites W2058549226 @default.
• W2995502384 cites W2288675092 @default.
• W2995502384 doi "https://doi.org/10.1111/trf.15640" @default.
• W2995502384 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31859394" @default.
• W2995502384 hasPublicationYear "2019" @default.
• W2995502384 type Work @default.
• W2995502384 sameAs 2995502384 @default.
• W2995502384 citedByCount "1" @default.
• W2995502384 countsByYear W29955023842021 @default.
• W2995502384 crossrefType "journal-article" @default.
• W2995502384 hasAuthorship W2995502384A5005506984 @default.
• W2995502384 hasAuthorship W2995502384A5012568958 @default.
• W2995502384 hasAuthorship W2995502384A5014537195 @default.
• W2995502384 hasAuthorship W2995502384A5043778194 @default.
• W2995502384 hasAuthorship W2995502384A5054097770 @default.
• W2995502384 hasAuthorship W2995502384A5066903285 @default.
• W2995502384 hasAuthorship W2995502384A5068345062 @default.
• W2995502384 hasAuthorship W2995502384A5069471371 @default.
• W2995502384 hasBestOaLocation W29955023841 @default.
• W2995502384 hasConcept C104317684 @default.
• W2995502384 hasConcept C147483822 @default.
• W2995502384 hasConcept C153911025 @default.
• W2995502384 hasConcept C159654299 @default.
• W2995502384 hasConcept C16685009 @default.
• W2995502384 hasConcept C172680121 @default.
• W2995502384 hasConcept C203014093 @default.
• W2995502384 hasConcept C2779234561 @default.
• W2995502384 hasConcept C2779989375 @default.
• W2995502384 hasConcept C36823959 @default.
• W2995502384 hasConcept C45189115 @default.
• W2995502384 hasConcept C46973012 @default.
• W2995502384 hasConcept C542903549 @default.
• W2995502384 hasConcept C54355233 @default.
• W2995502384 hasConcept C71924100 @default.
• W2995502384 hasConcept C86803240 @default.
• W2995502384 hasConcept C89560881 @default.
• W2995502384 hasConceptScore W2995502384C104317684 @default.
• W2995502384 hasConceptScore W2995502384C147483822 @default.
• W2995502384 hasConceptScore W2995502384C153911025 @default.
• W2995502384 hasConceptScore W2995502384C159654299 @default.
• W2995502384 hasConceptScore W2995502384C16685009 @default.
• W2995502384 hasConceptScore W2995502384C172680121 @default.
• W2995502384 hasConceptScore W2995502384C203014093 @default.
• W2995502384 hasConceptScore W2995502384C2779234561 @default.
• W2995502384 hasConceptScore W2995502384C2779989375 @default.
• W2995502384 hasConceptScore W2995502384C36823959 @default.
• W2995502384 hasConceptScore W2995502384C45189115 @default.
• W2995502384 hasConceptScore W2995502384C46973012 @default.
• W2995502384 hasConceptScore W2995502384C542903549 @default.
• W2995502384 hasConceptScore W2995502384C54355233 @default.
• W2995502384 hasConceptScore W2995502384C71924100 @default.
• W2995502384 hasConceptScore W2995502384C86803240 @default.
• W2995502384 hasConceptScore W2995502384C89560881 @default.
• W2995502384 hasIssue "1" @default.
• W2995502384 hasLocation W29955023841 @default.
• W2995502384 hasLocation W29955023842 @default.
• W2995502384 hasLocation W29955023843 @default.
• W2995502384 hasOpenAccess W2995502384 @default.
• W2995502384 hasPrimaryLocation W29955023841 @default.
• W2995502384 hasRelatedWork W1493331593 @default.
• W2995502384 hasRelatedWork W1997716688 @default.
• W2995502384 hasRelatedWork W2018025460 @default.
• W2995502384 hasRelatedWork W2038126255 @default.
• W2995502384 hasRelatedWork W2062809369 @default.
• W2995502384 hasRelatedWork W2064089409 @default.
• W2995502384 hasRelatedWork W2068190618 @default.
• W2995502384 hasRelatedWork W2368460920 @default.
• W2995502384 hasRelatedWork W2380360044 @default.
• W2995502384 hasRelatedWork W4237362916 @default.
• W2995502384 hasVolume "60" @default.
• W2995502384 isParatext "false" @default.
• W2995502384 isRetracted "false" @default.
• W2995502384 magId "2995502384" @default.
• W2995502384 workType "article" @default.