Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.

Marcus Fager Ferrari Eva M K ZetterbergMaria RossingTina Manon-JensenMartin PehrssonMorten A KarsdalJens LykkesfeldtEva Leinoe

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2020)

Functional investigations of collagen remodelling were not able to identify any clear associations between the identified variants and increased bleeding. The negative correlation between plasma AA levels and ISTH-BAT score motivates further investigations.

Keyphrases

wound healing
copy number
tissue engineering
atrial fibrillation
dna repair
gene expression
dna methylation
oxidative stress