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Open Access 01-12-2017 | Short communication

THBD sequence variants potentially related to recurrent pregnancy loss

Authors: Paula Quintero-Ronderos, Eric Mercier, Jean-Christophe Gris, Clara Esteban-Perez, Harold Moreno-Ortiz, Dora Janeth Fonseca, Elkin Lucena, Daniel Vaiman, Paul Laissue

Published in: Reproductive Biology and Endocrinology | Issue 1/2017

Abstract

Recurrent pregnancy loss (RPL) is a frequently occurring disease, which is classified as idiopathic in more than 50% of cases. THBD, the endothelial cell receptor for thrombin, has been associated with distinct biological processes and considered a coherent RPL-related candidate gene. In the present study, we have sequenced the complete coding region of THBD in 262 patients affected by RPL. Bioinformatics analysis and screening of controls strongly suggested that the THBD-p.Trp153Gly mutation might be related to RPL aetiology. It could be used, after its validation by functional assays, as a molecular marker for diagnostic/prognostic purposes.

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Title: THBD sequence variants potentially related to recurrent pregnancy loss
Authors: Paula Quintero-Ronderos
Eric Mercier
Jean-Christophe Gris
Clara Esteban-Perez
Harold Moreno-Ortiz
Dora Janeth Fonseca
Elkin Lucena
Daniel Vaiman
Paul Laissue
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: Reproductive Biology and Endocrinology / Issue 1/2017
Electronic ISSN: 1477-7827
DOI: https://doi.org/10.1186/s12958-017-0311-0

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THBD sequence variants potentially related to recurrent pregnancy loss

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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