FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4247620746> ?p ?o ?g. }

• W4247620746 endingPage "4670" @default.
• W4247620746 startingPage "4663" @default.
• W4247620746 abstract "In type 2N von Willebrand disease (vWD), von Willebrand factor (vWF) is characterized by normal multimeric pattern, normal platelet-dependent function, but a markedly decreased affinity for factor VIII (FVIII). In this report, we describe the case of a vWD patient who has an abnormal vWF multimers distribution associated with a markedly decreased vWF ability to bind FVIII. Sequencing analysis of patient’s vWF gene showed, at heterozygous state, a G→A transition resulting in the substitution of Asn for Asp at position 116 of the mature vWF subunit and a C→T transition, changing the codon for Arg 896 into a stop codon. His sister who has a subnormal vWF level, but a normal FVIII/vWF interaction, was found to be heterozygous for the Arg896ter mutation only. Recombinant vWF (rvWF) containing the candidate (Asn116) missense mutation was expressed in COS-7 cells. The expression level of Asn116rvWF was significantly decreased compared with wild-type rvWF. The multimeric pattern of Asn116rvWF was greatly impaired as shown by the decrease in high molecular weight forms. The FVIII binding ability of Asn116rvWF was dramatically decreased. These data show that the Asp116Asn substitution is the cause of both the defective FVIII/vWF interaction and the impaired multimeric pattern observed in the patient’s vWF. The monoclonal antibody 31H3 against D’ domain of vWF (epitope aa 66-76) that partially inhibits the FVIII binding and recognizes only nonreduced vWF, showed a decreased ability to bind Asn116rvWF when used as capture-antibody in enzyme-linked immunosorbent assay (ELISA). This result suggests that a potential conformation change in the D’ domain is induced by the Asp116Asn substitution, which is localized in the D3 domain." @default.
• W4247620746 created "2022-05-12" @default.
• W4247620746 creator A5025452050 @default.
• W4247620746 creator A5028865217 @default.
• W4247620746 creator A5038686780 @default.
• W4247620746 creator A5082784881 @default.
• W4247620746 date "1998-12-15" @default.
• W4247620746 modified "2023-10-02" @default.
• W4247620746 title "A Novel Mutation in the D3 Domain of von Willebrand Factor Markedly Decreases Its Ability to Bind Factor VIII and Affects Its Multimerization" @default.
• W4247620746 cites W136157143 @default.
• W4247620746 cites W1540151595 @default.
• W4247620746 cites W1542510190 @default.
• W4247620746 cites W1542837635 @default.
• W4247620746 cites W1554853279 @default.
• W4247620746 cites W1581087233 @default.
• W4247620746 cites W1585217207 @default.
• W4247620746 cites W1625938724 @default.
• W4247620746 cites W1721634089 @default.
• W4247620746 cites W1973231476 @default.
• W4247620746 cites W2005021549 @default.
• W4247620746 cites W2005268147 @default.
• W4247620746 cites W2008715590 @default.
• W4247620746 cites W2018339334 @default.
• W4247620746 cites W2024467920 @default.
• W4247620746 cites W2025238197 @default.
• W4247620746 cites W2026646991 @default.
• W4247620746 cites W2028980990 @default.
• W4247620746 cites W2029708892 @default.
• W4247620746 cites W2039852043 @default.
• W4247620746 cites W2048397216 @default.
• W4247620746 cites W2060842498 @default.
• W4247620746 cites W2077944011 @default.
• W4247620746 cites W2078314103 @default.
• W4247620746 cites W2108868109 @default.
• W4247620746 cites W2127451188 @default.
• W4247620746 cites W2160212074 @default.
• W4247620746 cites W2295742940 @default.
• W4247620746 cites W2337186576 @default.
• W4247620746 cites W2395370411 @default.
• W4247620746 cites W2395581362 @default.
• W4247620746 cites W2404846762 @default.
• W4247620746 cites W2412345056 @default.
• W4247620746 cites W2412738106 @default.
• W4247620746 cites W2415578445 @default.
• W4247620746 cites W2417722076 @default.
• W4247620746 cites W2462127403 @default.
• W4247620746 cites W2471189483 @default.
• W4247620746 cites W28685297 @default.
• W4247620746 cites W4242703805 @default.
• W4247620746 cites W4253122603 @default.
• W4247620746 cites W51460203 @default.
• W4247620746 doi "https://doi.org/10.1182/blood.v92.12.4663.424k06_4663_4670" @default.
• W4247620746 hasPublicationYear "1998" @default.
• W4247620746 type Work @default.
• W4247620746 citedByCount "1" @default.
• W4247620746 crossrefType "journal-article" @default.
• W4247620746 hasAuthorship W4247620746A5025452050 @default.
• W4247620746 hasAuthorship W4247620746A5028865217 @default.
• W4247620746 hasAuthorship W4247620746A5038686780 @default.
• W4247620746 hasAuthorship W4247620746A5082784881 @default.
• W4247620746 hasConcept C104317684 @default.
• W4247620746 hasConcept C153911025 @default.
• W4247620746 hasConcept C159654299 @default.
• W4247620746 hasConcept C185592680 @default.
• W4247620746 hasConcept C194232998 @default.
• W4247620746 hasConcept C195616568 @default.
• W4247620746 hasConcept C203014093 @default.
• W4247620746 hasConcept C2778780528 @default.
• W4247620746 hasConcept C2779394231 @default.
• W4247620746 hasConcept C40767141 @default.
• W4247620746 hasConcept C501734568 @default.
• W4247620746 hasConcept C542903549 @default.
• W4247620746 hasConcept C54355233 @default.
• W4247620746 hasConcept C55493867 @default.
• W4247620746 hasConcept C75563809 @default.
• W4247620746 hasConcept C86803240 @default.
• W4247620746 hasConcept C89560881 @default.
• W4247620746 hasConceptScore W4247620746C104317684 @default.
• W4247620746 hasConceptScore W4247620746C153911025 @default.
• W4247620746 hasConceptScore W4247620746C159654299 @default.
• W4247620746 hasConceptScore W4247620746C185592680 @default.
• W4247620746 hasConceptScore W4247620746C194232998 @default.
• W4247620746 hasConceptScore W4247620746C195616568 @default.
• W4247620746 hasConceptScore W4247620746C203014093 @default.
• W4247620746 hasConceptScore W4247620746C2778780528 @default.
• W4247620746 hasConceptScore W4247620746C2779394231 @default.
• W4247620746 hasConceptScore W4247620746C40767141 @default.
• W4247620746 hasConceptScore W4247620746C501734568 @default.
• W4247620746 hasConceptScore W4247620746C542903549 @default.
• W4247620746 hasConceptScore W4247620746C54355233 @default.
• W4247620746 hasConceptScore W4247620746C55493867 @default.
• W4247620746 hasConceptScore W4247620746C75563809 @default.
• W4247620746 hasConceptScore W4247620746C86803240 @default.
• W4247620746 hasConceptScore W4247620746C89560881 @default.
• W4247620746 hasIssue "12" @default.
• W4247620746 hasLocation W42476207461 @default.
• W4247620746 hasOpenAccess W4247620746 @default.
• W4247620746 hasPrimaryLocation W42476207461 @default.

• next