Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding.
Age of Onset
Animals
CHO Cells
Coagulants
/ therapeutic use
Codon, Nonsense
Cricetulus
Endoplasmic Reticulum Stress
Exons
Factor VII
/ genetics
Factor VIIa
/ therapeutic use
Genetic Predisposition to Disease
HEK293 Cells
Hemostasis
/ drug effects
Homozygote
Humans
Intracranial Hemorrhages
/ blood
Models, Molecular
Mutation, Missense
Phenotype
Recombinant Proteins
/ therapeutic use
Treatment Outcome
Journal
Thrombosis and haemostasis
ISSN: 2567-689X
Titre abrégé: Thromb Haemost
Pays: Germany
ID NLM: 7608063
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
aheadofprint:
19
03
2021
pubmed:
21
3
2021
medline:
17
3
2022
entrez:
20
3
2021
Statut:
ppublish
Résumé
Clinical parameters have been extensively studied in factor (F) VII deficiency, but the knowledge of molecular mechanisms of this disease is scarce. We report on three probands with intracranial bleeds at an early age, one of which had concomitant high titer of FVII inhibitor. The aim of the present study was to identify the causative mutations and to elucidate the underlying molecular mechanisms. All nine
Substances chimiques
Coagulants
0
Codon, Nonsense
0
Recombinant Proteins
0
Factor VII
9001-25-6
Factor VIIa
EC 3.4.21.21
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1588-1598Subventions
Organisme : 295910
ID : Research Council of Norway INFRASTRUKTUR-program
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
E.A. and M.E.C. report grants from South-Eastern Norway Regional Health Authority, during the conduct of the study. P.H.B. reports grants from Research Council of Norway, during the conduct of the study.