THBD sequence variants potentially related to recurrent pregnancy loss

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...

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Autores principales: Quintero-Ronderos, Paula, Mercier, Eric, Gris, Jean-Christophe, Esteban-Perez, Clara, Moreno-Ortiz, Harold, Fonseca, Dora Janeth, Lucena, Elkin, Vaiman, Daniel, Laissue, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709961/
https://www.ncbi.nlm.nih.gov/pubmed/29195508
http://dx.doi.org/10.1186/s12958-017-0311-0
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author Quintero-Ronderos, Paula
Mercier, Eric
Gris, Jean-Christophe
Esteban-Perez, Clara
Moreno-Ortiz, Harold
Fonseca, Dora Janeth
Lucena, Elkin
Vaiman, Daniel
Laissue, Paul
author_facet Quintero-Ronderos, Paula
Mercier, Eric
Gris, Jean-Christophe
Esteban-Perez, Clara
Moreno-Ortiz, Harold
Fonseca, Dora Janeth
Lucena, Elkin
Vaiman, Daniel
Laissue, Paul
author_sort Quintero-Ronderos, Paula
collection PubMed
description 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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spelling pubmed-57099612017-12-06 THBD sequence variants potentially related to recurrent pregnancy loss Quintero-Ronderos, Paula Mercier, Eric Gris, Jean-Christophe Esteban-Perez, Clara Moreno-Ortiz, Harold Fonseca, Dora Janeth Lucena, Elkin Vaiman, Daniel Laissue, Paul Reprod Biol Endocrinol Short Communication 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. BioMed Central 2017-12-01 /pmc/articles/PMC5709961/ /pubmed/29195508 http://dx.doi.org/10.1186/s12958-017-0311-0 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Communication
Quintero-Ronderos, Paula
Mercier, Eric
Gris, Jean-Christophe
Esteban-Perez, Clara
Moreno-Ortiz, Harold
Fonseca, Dora Janeth
Lucena, Elkin
Vaiman, Daniel
Laissue, Paul
THBD sequence variants potentially related to recurrent pregnancy loss
title THBD sequence variants potentially related to recurrent pregnancy loss
title_full THBD sequence variants potentially related to recurrent pregnancy loss
title_fullStr THBD sequence variants potentially related to recurrent pregnancy loss
title_full_unstemmed THBD sequence variants potentially related to recurrent pregnancy loss
title_short THBD sequence variants potentially related to recurrent pregnancy loss
title_sort thbd sequence variants potentially related to recurrent pregnancy loss
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5709961/
https://www.ncbi.nlm.nih.gov/pubmed/29195508
http://dx.doi.org/10.1186/s12958-017-0311-0
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