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...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2017
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/22921
- Acceso en línea:
- https://doi.org/10.1186/s12958-017-0311-0
https://repository.urosario.edu.co/handle/10336/22921
- Palabra clave:
- Adult
Article
Caucasian
Controlled study
Female
Gene
Gene frequency
Gene mutation
Gene sequence
Human
Major clinical study
Mestizo
Polymerase chain reaction
Pregnancy disorder
Recurrent pregnancy loss
Single nucleotide polymorphism
Spontaneous abortion
Thbd gene
Biology
Case control study
Gene frequency
Genetic database
Genetic predisposition
Genetic variation
Genetics
Pregnancy
Recurrent abortion
Single nucleotide polymorphism
Thrombomodulin
Adult
Case-control studies
Computational biology
Female
Gene frequency
Genetic predisposition to disease
Genetic variation
Humans
Pregnancy
Thrombomodulin
Female infertility
Molecular marker
Recurrent pregnancy loss
Thbd
single nucleotide
human
habitual
genetic
Thbd protein
Abortion
Databases
Polymorphism
- Rights
- License
- Abierto (Texto Completo)
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dc.title.spa.fl_str_mv |
THBD sequence variants potentially related to recurrent pregnancy loss |
title |
THBD sequence variants potentially related to recurrent pregnancy loss |
spellingShingle |
THBD sequence variants potentially related to recurrent pregnancy loss Adult Article Caucasian Controlled study Female Gene Gene frequency Gene mutation Gene sequence Human Major clinical study Mestizo Polymerase chain reaction Pregnancy disorder Recurrent pregnancy loss Single nucleotide polymorphism Spontaneous abortion Thbd gene Biology Case control study Gene frequency Genetic database Genetic predisposition Genetic variation Genetics Pregnancy Recurrent abortion Single nucleotide polymorphism Thrombomodulin Adult Case-control studies Computational biology Female Gene frequency Genetic predisposition to disease Genetic variation Humans Pregnancy Thrombomodulin Female infertility Molecular marker Recurrent pregnancy loss Thbd single nucleotide human habitual genetic Thbd protein Abortion Databases Polymorphism |
title_short |
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_sort |
THBD sequence variants potentially related to recurrent pregnancy loss |
dc.subject.keyword.spa.fl_str_mv |
Adult Article Caucasian Controlled study Female Gene Gene frequency Gene mutation Gene sequence Human Major clinical study Mestizo Polymerase chain reaction Pregnancy disorder Recurrent pregnancy loss Single nucleotide polymorphism Spontaneous abortion Thbd gene Biology Case control study Gene frequency Genetic database Genetic predisposition Genetic variation Genetics Pregnancy Recurrent abortion Single nucleotide polymorphism Thrombomodulin Adult Case-control studies Computational biology Female Gene frequency Genetic predisposition to disease Genetic variation Humans Pregnancy Thrombomodulin Female infertility Molecular marker Recurrent pregnancy loss Thbd |
topic |
Adult Article Caucasian Controlled study Female Gene Gene frequency Gene mutation Gene sequence Human Major clinical study Mestizo Polymerase chain reaction Pregnancy disorder Recurrent pregnancy loss Single nucleotide polymorphism Spontaneous abortion Thbd gene Biology Case control study Gene frequency Genetic database Genetic predisposition Genetic variation Genetics Pregnancy Recurrent abortion Single nucleotide polymorphism Thrombomodulin Adult Case-control studies Computational biology Female Gene frequency Genetic predisposition to disease Genetic variation Humans Pregnancy Thrombomodulin Female infertility Molecular marker Recurrent pregnancy loss Thbd single nucleotide human habitual genetic Thbd protein Abortion Databases Polymorphism |
dc.subject.keyword.eng.fl_str_mv |
single nucleotide human habitual genetic Thbd protein Abortion Databases Polymorphism |
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. © 2017 The Author(s). |
publishDate |
2017 |
dc.date.created.spa.fl_str_mv |
2017 |
dc.date.accessioned.none.fl_str_mv |
2020-05-25T23:58:44Z |
dc.date.available.none.fl_str_mv |
2020-05-25T23:58:44Z |
dc.type.eng.fl_str_mv |
article |
dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
dc.type.spa.spa.fl_str_mv |
Artículo |
dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1186/s12958-017-0311-0 |
dc.identifier.issn.none.fl_str_mv |
14777827 |
dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/22921 |
url |
https://doi.org/10.1186/s12958-017-0311-0 https://repository.urosario.edu.co/handle/10336/22921 |
identifier_str_mv |
14777827 |
dc.language.iso.spa.fl_str_mv |
eng |
language |
eng |
dc.relation.citationIssue.none.fl_str_mv |
No. 1 |
dc.relation.citationTitle.none.fl_str_mv |
Reproductive Biology and Endocrinology |
dc.relation.citationVolume.none.fl_str_mv |
Vol. 15 |
dc.relation.ispartof.spa.fl_str_mv |
Reproductive Biology and Endocrinology, ISSN:14777827, Vol.15, No.1 (2017) |
dc.relation.uri.spa.fl_str_mv |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85036529556&doi=10.1186%2fs12958-017-0311-0&partnerID=40&md5=8fe121a42684028b01d8d4ad8ebbc63b |
dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
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Abierto (Texto Completo) |
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Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
dc.format.mimetype.none.fl_str_mv |
application/pdf |
dc.publisher.spa.fl_str_mv |
BioMed Central Ltd. |
institution |
Universidad del Rosario |
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