0000000000683662

AUTHOR

Maria Luisa Serino

showing 2 related works from this author

Acquired inhibitors of clotting factors: AICE recommendations for diagnosis and management

2015

MaleAutoantibodies; Blood Coagulation Factor Inhibitors; Female; Humans; Male; Hemophilia A; Immunology and Allergy; HematologyBlood Coagulation Factor InhibitorsHumansImmunology and AllergyBlood Coagulation Factor InhibitorFemaleHematologyRecommendationHemophilia AAutoantibodieHumanAutoantibodies
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F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

2022

Background Circulating dysfunctional factor IX (FIX) might modulate distribution of infused FIX in hemophilia B (HB) patients. Recurrent substitutions at FIX activation sites (R191-R226, >300 patients) are associated with variable FIX activity and antigen (FIXag) levels. Objectives To investigate the (1) expression of a complete panel of missense mutations at FIX activation sites and (2) contribution of F9 genotypes on the FIX pharmacokinetics (PK). Methods We checked FIX activity and antigen and activity assays in plasma and after recombinant expression of FIX variants and performed an analysis of infused FIX PK parameters in patients (n = 30), mostly enrolled in the F9 Genotype and PK HB …

medicine.medical_specialtypharmacogenetics.Mutation MissenseSocio-culturaleAlpha (ethology)aemophilia Brecombinant proteinsHemophilia Blaw.inventionFactor IXAntigenlawInternal medicineGenotypemedicineMissense mutationHumansHaemophilia BpharmacokineticBeta (finance)Factor IXpharmacogeneticsChemistryHematologymedicine.diseaseEndocrinologyPhenotypefactor IX activation; hemophilia B; pharmacogenetics; pharmacokinetics; recombinant proteinsRecombinant DNAFemalefactor IX activationBlood Coagulation Testspharmacokineticsrecombinant proteinmedicine.drugJournal of thrombosis and haemostasis : JTH
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