Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage | Zendy

Milja Kaare | Zendy; VeliMatti Ulander | Zendy; Jodie N. Painter | Zendy; Terhi Ahvenainen | Zendy; Risto Kaaja | Zendy; K. Aittomäki | Zendy

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Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage

Author(s) -

Milja Kaare,

VeliMatti Ulander,

Jodie N. Painter,

Terhi Ahvenainen,

Risto Kaaja,

K. Aittomäki

Publication year - 2006

Publication title -

human reproduction

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.446

H-Index - 226

eISSN - 1460-2350

pISSN - 0268-1161

DOI - 10.1093/humrep/del436

Subject(s) - endothelial protein c receptor , thrombomodulin , recurrent miscarriage , gene , protein c , mutation , thrombophilia , biology , protein s deficiency , genetics , microbiology and biotechnology , miscarriage , thrombin , pregnancy , immunology , biochemistry , platelet

Recurrent miscarriage (RM) has been suggested to be caused by mutations in genes coding for various coagulation factors resulting in thrombophilia. Mouse models indicate that genes involved in the protein C anticoagulant pathway are essential for normal embryonic development. Loss of function of two of these genes, thrombomodulin (TM) and endothelial protein C receptor (EPCR), causes embryonic lethality in mice. The aim of this study was to determine whether variations in the human TM or EPCR genes are associated with an increased risk for RM.

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