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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.
Afiliação
  • Quintero-Ronderos P; Center For Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 N° 63C, -69, Bogotá, Colombia.
  • Mercier E; Department of Haematology, University Hospital, Nîmes, France.
  • Gris JC; Faculty of Pharmacy and Biological Sciences and Research Team EA 2992, University of Montpellier, Montpellier, France.
  • Esteban-Perez C; Department of Haematology, University Hospital, Nîmes, France.
  • Moreno-Ortiz H; Faculty of Pharmacy and Biological Sciences and Research Team EA 2992, University of Montpellier, Montpellier, France.
  • Fonseca DJ; Department of Reproductive Genetics, Fertility and Sterility Colombian Center, Bogotá, Colombia.
  • Lucena E; Department of Reproductive Genetics, Fertility and Sterility Colombian Center, Bogotá, Colombia.
  • Vaiman D; Center For Research in Genetics and Genomics-CIGGUR, GENIUROS Research Group, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 N° 63C, -69, Bogotá, Colombia.
  • Laissue P; Department of Reproductive Genetics, Fertility and Sterility Colombian Center, Bogotá, Colombia.
Reprod Biol Endocrinol ; 15(1): 92, 2017 Dec 01.
Article em En | MEDLINE | ID: mdl-29195508
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aborto Habitual / Trombomodulina / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Frequência do Gene Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Reprod Biol Endocrinol Assunto da revista: ENDOCRINOLOGIA / MEDICINA REPRODUTIVA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Reino Unido
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aborto Habitual / Trombomodulina / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Frequência do Gene Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Reprod Biol Endocrinol Assunto da revista: ENDOCRINOLOGIA / MEDICINA REPRODUTIVA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Colômbia País de publicação: Reino Unido