Matches in SemOpenAlex for { <https://semopenalex.org/work/W1991005002> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W1991005002 endingPage "453" @default.
- W1991005002 startingPage "445" @default.
- W1991005002 abstract "Summary. The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk null phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jk b ‐ like alleles of Polynesians and Finns, populations with higher Jk null frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jk a ‐like alleles. The Swiss Jk null alleles deviated from wild‐type Jk a sequence by a nonsense mutation in exon 7 causing an immediate stop codon (Tyr194stop). The English Jk null alleles revealed a genomic 1·6 kilobase pair deletion including exons 4 and 5, the former of which includes the translation start codon. Multiple mRNA splicing variants were detected in reticulocytes but exons 3–5 were absent in all transcripts analysed. Screening for these alleles was negative in random donors. Two novel molecular alterations at the JK locus were defined and a multiplex polymerase chain reaction method for detection of the five known silent Jk alleles was developed to complement JK genotyping in clinical transfusion medicine." @default.
- W1991005002 created "2016-06-24" @default.
- W1991005002 creator A5026856386 @default.
- W1991005002 creator A5033330338 @default.
- W1991005002 creator A5042698196 @default.
- W1991005002 creator A5065802998 @default.
- W1991005002 creator A5082739546 @default.
- W1991005002 date "2002-02-01" @default.
- W1991005002 modified "2023-10-17" @default.
- W1991005002 title "Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families*" @default.
- W1991005002 cites W1618643845 @default.
- W1991005002 cites W1914660390 @default.
- W1991005002 cites W1969667647 @default.
- W1991005002 cites W1974633406 @default.
- W1991005002 cites W1978085375 @default.
- W1991005002 cites W1978915398 @default.
- W1991005002 cites W1983005602 @default.
- W1991005002 cites W1999664492 @default.
- W1991005002 cites W2036185004 @default.
- W1991005002 cites W2046873016 @default.
- W1991005002 cites W2051660178 @default.
- W1991005002 cites W2062809369 @default.
- W1991005002 cites W2075815821 @default.
- W1991005002 cites W2102691003 @default.
- W1991005002 cites W2118094114 @default.
- W1991005002 cites W2155910607 @default.
- W1991005002 cites W2161354173 @default.
- W1991005002 doi "https://doi.org/10.1046/j.1365-2141.2002.03238.x" @default.
- W1991005002 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11841450" @default.
- W1991005002 hasPublicationYear "2002" @default.
- W1991005002 type Work @default.
- W1991005002 sameAs 1991005002 @default.
- W1991005002 citedByCount "34" @default.
- W1991005002 countsByYear W19910050022012 @default.
- W1991005002 countsByYear W19910050022013 @default.
- W1991005002 countsByYear W19910050022014 @default.
- W1991005002 countsByYear W19910050022015 @default.
- W1991005002 countsByYear W19910050022016 @default.
- W1991005002 countsByYear W19910050022017 @default.
- W1991005002 countsByYear W19910050022020 @default.
- W1991005002 countsByYear W19910050022023 @default.
- W1991005002 crossrefType "journal-article" @default.
- W1991005002 hasAuthorship W1991005002A5026856386 @default.
- W1991005002 hasAuthorship W1991005002A5033330338 @default.
- W1991005002 hasAuthorship W1991005002A5042698196 @default.
- W1991005002 hasAuthorship W1991005002A5065802998 @default.
- W1991005002 hasAuthorship W1991005002A5082739546 @default.
- W1991005002 hasBestOaLocation W19910050021 @default.
- W1991005002 hasConcept C104317684 @default.
- W1991005002 hasConcept C135763542 @default.
- W1991005002 hasConcept C153911025 @default.
- W1991005002 hasConcept C180754005 @default.
- W1991005002 hasConcept C31467283 @default.
- W1991005002 hasConcept C36823959 @default.
- W1991005002 hasConcept C54355233 @default.
- W1991005002 hasConcept C57708383 @default.
- W1991005002 hasConcept C84597430 @default.
- W1991005002 hasConcept C86803240 @default.
- W1991005002 hasConceptScore W1991005002C104317684 @default.
- W1991005002 hasConceptScore W1991005002C135763542 @default.
- W1991005002 hasConceptScore W1991005002C153911025 @default.
- W1991005002 hasConceptScore W1991005002C180754005 @default.
- W1991005002 hasConceptScore W1991005002C31467283 @default.
- W1991005002 hasConceptScore W1991005002C36823959 @default.
- W1991005002 hasConceptScore W1991005002C54355233 @default.
- W1991005002 hasConceptScore W1991005002C57708383 @default.
- W1991005002 hasConceptScore W1991005002C84597430 @default.
- W1991005002 hasConceptScore W1991005002C86803240 @default.
- W1991005002 hasIssue "2" @default.
- W1991005002 hasLocation W19910050021 @default.
- W1991005002 hasLocation W19910050022 @default.
- W1991005002 hasOpenAccess W1991005002 @default.
- W1991005002 hasPrimaryLocation W19910050021 @default.
- W1991005002 hasRelatedWork W1978751691 @default.
- W1991005002 hasRelatedWork W1982793191 @default.
- W1991005002 hasRelatedWork W1989502778 @default.
- W1991005002 hasRelatedWork W1992308980 @default.
- W1991005002 hasRelatedWork W2042873259 @default.
- W1991005002 hasRelatedWork W2124478268 @default.
- W1991005002 hasRelatedWork W2125344851 @default.
- W1991005002 hasRelatedWork W2361342090 @default.
- W1991005002 hasRelatedWork W2413816897 @default.
- W1991005002 hasRelatedWork W2740269337 @default.
- W1991005002 hasVolume "116" @default.
- W1991005002 isParatext "false" @default.
- W1991005002 isRetracted "false" @default.
- W1991005002 magId "1991005002" @default.
- W1991005002 workType "article" @default.