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...

Full description

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)
id EDOCUR2_1aa18840136818650f7c87e783ceaca2
oai_identifier_str oai:repository.urosario.edu.co:10336/22921
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling 299680bb-e986-48f7-b729-9181a4735209-18641dbbb-db7e-4786-9685-229ba16950a6-16c92e4d5-791e-4d4e-b620-0ccf615a0a4d-18a5020b2-7ee7-415a-97e7-cfe805482a4e-19e86e700-c607-4d73-8296-5d012b6a6082-1ae209adb-6a4d-49df-9d4b-64e0f1102da3-1060cd606-a1b2-4ff3-8204-0b5b56af7750-152094825600797827706002020-05-25T23:58:44Z2020-05-25T23:58:44Z2017Recurrent 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).application/pdfhttps://doi.org/10.1186/s12958-017-0311-014777827https://repository.urosario.edu.co/handle/10336/22921engBioMed Central Ltd.No. 1Reproductive Biology and EndocrinologyVol. 15Reproductive Biology and Endocrinology, ISSN:14777827, Vol.15, No.1 (2017)https://www.scopus.com/inward/record.uri?eid=2-s2.0-85036529556&doi=10.1186%2fs12958-017-0311-0&partnerID=40&md5=8fe121a42684028b01d8d4ad8ebbc63bAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAdultArticleCaucasianControlled studyFemaleGeneGene frequencyGene mutationGene sequenceHumanMajor clinical studyMestizoPolymerase chain reactionPregnancy disorderRecurrent pregnancy lossSingle nucleotide polymorphismSpontaneous abortionThbd geneBiologyCase control studyGene frequencyGenetic databaseGenetic predispositionGenetic variationGeneticsPregnancyRecurrent abortionSingle nucleotide polymorphismThrombomodulinAdultCase-control studiesComputational biologyFemaleGene frequencyGenetic predisposition to diseaseGenetic variationHumansPregnancyThrombomodulinFemale infertilityMolecular markerRecurrent pregnancy lossThbdsingle nucleotidehumanhabitualgeneticThbd proteinAbortionDatabasesPolymorphismTHBD sequence variants potentially related to recurrent pregnancy lossarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Quintero-Ronderos, PaulaMercier, EricGris, Jean-ChristopheEsteban-Perez, ClaraMoreno-Ortiz, HaroldLucena, ElkinVaiman, DanielFonseca Mendoza, Dora JanethLaissue, PaulORIGINALs12958-017-0311-0.pdfapplication/pdf347698https://repository.urosario.edu.co/bitstreams/b05ff562-6a21-4707-b6f7-fd883fe505bb/download6c98d2133f7e15a2b61fc2fe4910c3a4MD51TEXTs12958-017-0311-0.pdf.txts12958-017-0311-0.pdf.txtExtracted texttext/plain20312https://repository.urosario.edu.co/bitstreams/f5fee2a0-4e12-4b76-9f34-af2eab96f0a7/downloaded2168b0daf991dd8786819bb5ca204eMD52THUMBNAILs12958-017-0311-0.pdf.jpgs12958-017-0311-0.pdf.jpgGenerated Thumbnailimage/jpeg4592https://repository.urosario.edu.co/bitstreams/ab66e576-3e11-46b0-8395-e110001ad84a/downloada6bb2771ddcfd96242ce95b9b3807651MD5310336/22921oai:repository.urosario.edu.co:10336/229212022-05-02 07:37:18.142091https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
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
dc.rights.acceso.spa.fl_str_mv Abierto (Texto Completo)
rights_invalid_str_mv 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
dc.source.instname.spa.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.spa.fl_str_mv reponame:Repositorio Institucional EdocUR
bitstream.url.fl_str_mv https://repository.urosario.edu.co/bitstreams/b05ff562-6a21-4707-b6f7-fd883fe505bb/download
https://repository.urosario.edu.co/bitstreams/f5fee2a0-4e12-4b76-9f34-af2eab96f0a7/download
https://repository.urosario.edu.co/bitstreams/ab66e576-3e11-46b0-8395-e110001ad84a/download
bitstream.checksum.fl_str_mv 6c98d2133f7e15a2b61fc2fe4910c3a4
ed2168b0daf991dd8786819bb5ca204e
a6bb2771ddcfd96242ce95b9b3807651
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
_version_ 1814167601715085312