A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis.

Authors :: Palma-Barqueros V
Crescente M
de la Morena ME
Chan MV
Almarza E
Revilla N
Bohdan N
Miñano A
Padilla J
Allan HE
Maffucci T
Edin ML
Zeldin DC
Mesa-Nuñez C
Damian C
Marín-Quilez A
Benito R
Martínez-Martínez I
Bermejo N
Casas-Aviles I
Rodríguez-Alen A
González-Porras JR
Hernández-Rivas JM
Vicente V
Corral J
Lozano ML
Warner TD
Bastida JM
Rivera J
Source :: American journal of hematology [Am J Hematol] 2021 Mar 01; Vol. 96 (3), pp. E83-E88. Date of Electronic Publication: 2021 Jan 05.
Publication Year :: 2021

Subjects :: Adolescent
Asian People genetics
Cyclooxygenase 1 deficiency
Cyclooxygenase 1 metabolism
Female
Genes, Dominant
Glycosylation
HEK293 Cells
Hemorrhagic Disorders blood
Heterozygote
Humans
Phenotype
Platelet Activation physiology
Cyclooxygenase 1 genetics
Hemorrhagic Disorders genetics
Loss of Function Mutation
Mutation, Missense
Platelet Activation genetics
Protein Processing, Post-Translational genetics

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