Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans
Identifieur interne : 002333 ( Main/Curation ); précédent : 002332; suivant : 002334Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans
Auteurs : Paul Laissue [France, Colombie] ; Besma Lakhal [Tunisie] ; Magalie Vatin [France] ; Frank Batista [États-Unis] ; Gaëtan Burgio [France, Australie] ; Eric Mercier [France] ; Esther Dos Santos [France] ; Christophe Buffat [France] ; Diana Carolina Sierra-Diaz [Colombie] ; Gilles Renault [France] ; Xavier Montagutelli [France] ; Jane Salmon [États-Unis] ; Philippe Monget [France] ; Reiner A. Veitia [France] ; Céline Méhats [France] ; Marc Fellous [France] ; Jean-Christophe Gris [France] ; Julie Cocquet [France] ; Daniel Vaiman [France]Source :
- Open Biology [ 2046-2441 ] ; 2016.
Abstract
Recurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that reproductive phenotypes should be considered as quantitative traits resulting from the intricate interaction of numerous genetic, epigenetic and environmental factors. Here, we studied an interspecific recombinant congenic strain (IRCS) of
Url:
DOI: 10.1098/rsob.160109
PubMed: 27805902
PubMed Central: 5090055
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PMC:5090055Le document en format XML
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variants with adverse pregnancy outcomes in mice and humans</title>
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,<addr-line>CNRS (UMR 8104), Paris</addr-line>
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<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Centro de Investigación en Genética y Genómica-CIGGUR, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud</addr-line>
,<institution>Universidad del Rosario</institution>
,<addr-line>Bogotá</addr-line>
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<author><name sortKey="Lakhal, Besma" sort="Lakhal, Besma" uniqKey="Lakhal B" first="Besma" last="Lakhal">Besma Lakhal</name>
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<author><name sortKey="Batista, Frank" sort="Batista, Frank" uniqKey="Batista F" first="Frank" last="Batista">Frank Batista</name>
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<author><name sortKey="Burgio, Gaetan" sort="Burgio, Gaetan" uniqKey="Burgio G" first="Gaëtan" last="Burgio">Gaëtan Burgio</name>
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<affiliation wicri:level="1"><nlm:aff id="af7"><addr-line>Department of Immunology and Infectious Disease, The John Curtin School of Medical Research</addr-line>
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,<addr-line>131 Garran Road, Canberra 2601, Australian Capital Territory</addr-line>
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<author><name sortKey="Mercier, Eric" sort="Mercier, Eric" uniqKey="Mercier E" first="Eric" last="Mercier">Eric Mercier</name>
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<author><name sortKey="Santos, Esther Dos" sort="Santos, Esther Dos" uniqKey="Santos E" first="Esther Dos" last="Santos">Esther Dos Santos</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Buffat, Christophe" sort="Buffat, Christophe" uniqKey="Buffat C" first="Christophe" last="Buffat">Christophe Buffat</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Sierra Diaz, Diana Carolina" sort="Sierra Diaz, Diana Carolina" uniqKey="Sierra Diaz D" first="Diana Carolina" last="Sierra-Diaz">Diana Carolina Sierra-Diaz</name>
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,<addr-line>Bogotá</addr-line>
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<author><name sortKey="Renault, Gilles" sort="Renault, Gilles" uniqKey="Renault G" first="Gilles" last="Renault">Gilles Renault</name>
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,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
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<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Montagutelli, Xavier" sort="Montagutelli, Xavier" uniqKey="Montagutelli X" first="Xavier" last="Montagutelli">Xavier Montagutelli</name>
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,<addr-line>Paris</addr-line>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Salmon, Jane" sort="Salmon, Jane" uniqKey="Salmon J" first="Jane" last="Salmon">Jane Salmon</name>
<affiliation wicri:level="1"><nlm:aff id="af12"><addr-line>Department of Medicine</addr-line>
,<institution>Weill Medical College of Cornell University</institution>
,<addr-line>New York, NY 10021</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Monget, Philippe" sort="Monget, Philippe" uniqKey="Monget P" first="Philippe" last="Monget">Philippe Monget</name>
<affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>INRA–CNRS</addr-line>
,<institution>Université de Tours—Haras Nationaux</institution>
,<addr-line>IFR 135, 37380 Nouzilly</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Veitia, Reiner A" sort="Veitia, Reiner A" uniqKey="Veitia R" first="Reiner A." last="Veitia">Reiner A. Veitia</name>
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,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Mehats, Celine" sort="Mehats, Celine" uniqKey="Mehats C" first="Céline" last="Méhats">Céline Méhats</name>
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,<addr-line>CNRS (UMR 8104), Paris</addr-line>
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<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Fellous, Marc" sort="Fellous, Marc" uniqKey="Fellous M" first="Marc" last="Fellous">Marc Fellous</name>
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<author><name sortKey="Gris, Jean Christophe" sort="Gris, Jean Christophe" uniqKey="Gris J" first="Jean-Christophe" last="Gris">Jean-Christophe Gris</name>
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,<addr-line>Montpellier</addr-line>
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<author><name sortKey="Cocquet, Julie" sort="Cocquet, Julie" uniqKey="Cocquet J" first="Julie" last="Cocquet">Julie Cocquet</name>
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<author><name sortKey="Vaiman, Daniel" sort="Vaiman, Daniel" uniqKey="Vaiman D" first="Daniel" last="Vaiman">Daniel Vaiman</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Association of <italic>FOXD1</italic>
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<country xml:lang="fr">Colombie</country>
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<author><name sortKey="Lakhal, Besma" sort="Lakhal, Besma" uniqKey="Lakhal B" first="Besma" last="Lakhal">Besma Lakhal</name>
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,<addr-line>Sousse</addr-line>
,<country>Tunisia</country>
</nlm:aff>
<country xml:lang="fr">Tunisie</country>
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<author><name sortKey="Vatin, Magalie" sort="Vatin, Magalie" uniqKey="Vatin M" first="Magalie" last="Vatin">Magalie Vatin</name>
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,<addr-line>CNRS (UMR 8104), Paris</addr-line>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Batista, Frank" sort="Batista, Frank" uniqKey="Batista F" first="Frank" last="Batista">Frank Batista</name>
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,<institution>Albert Einstein College of Medicine</institution>
,<addr-line>New York, NY 10461</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Burgio, Gaetan" sort="Burgio, Gaetan" uniqKey="Burgio G" first="Gaëtan" last="Burgio">Gaëtan Burgio</name>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af7"><addr-line>Department of Immunology and Infectious Disease, The John Curtin School of Medical Research</addr-line>
,<institution>the Australian National University</institution>
,<addr-line>131 Garran Road, Canberra 2601, Australian Capital Territory</addr-line>
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</nlm:aff>
<country xml:lang="fr">Australie</country>
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<author><name sortKey="Mercier, Eric" sort="Mercier, Eric" uniqKey="Mercier E" first="Eric" last="Mercier">Eric Mercier</name>
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,<addr-line>Montpellier</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Santos, Esther Dos" sort="Santos, Esther Dos" uniqKey="Santos E" first="Esther Dos" last="Santos">Esther Dos Santos</name>
<affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>GIG-EA 7404</addr-line>
,<institution>Université de Versailles-Saint Quentin en Yvelines</institution>
,<addr-line>Unité de Formation et de Recherche des Sciences de la Santé Simone Veil, 78180 Montigny-le-Bretonneux</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af10"><institution>Service de Biologie Médicale, Centre Hospitalier de Poissy-Saint-Germain</institution>
,<addr-line>78300 Poissy</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Buffat, Christophe" sort="Buffat, Christophe" uniqKey="Buffat C" first="Christophe" last="Buffat">Christophe Buffat</name>
<affiliation wicri:level="1"><nlm:aff id="af11"><institution>Centre National de la Recherche Scientifique UMR 7278</institution>
<addr-line>, IRD198, INSERM U1095</addr-line>
,<institution>Aix-Marseille Université</institution>
,<addr-line>Marseille</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sierra Diaz, Diana Carolina" sort="Sierra Diaz, Diana Carolina" uniqKey="Sierra Diaz D" first="Diana Carolina" last="Sierra-Diaz">Diana Carolina Sierra-Diaz</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Centro de Investigación en Genética y Genómica-CIGGUR, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud</addr-line>
,<institution>Universidad del Rosario</institution>
,<addr-line>Bogotá</addr-line>
,<country>Colombia</country>
</nlm:aff>
<country xml:lang="fr">Colombie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Renault, Gilles" sort="Renault, Gilles" uniqKey="Renault G" first="Gilles" last="Renault">Gilles Renault</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>Institut Cochin</addr-line>
,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>Inserm</institution>
,<addr-line>U1016 Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Montagutelli, Xavier" sort="Montagutelli, Xavier" uniqKey="Montagutelli X" first="Xavier" last="Montagutelli">Xavier Montagutelli</name>
<affiliation wicri:level="1"><nlm:aff id="af6"><institution>Institut Pasteur, Unité de Génétique des Mammifères</institution>
,<addr-line>Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Salmon, Jane" sort="Salmon, Jane" uniqKey="Salmon J" first="Jane" last="Salmon">Jane Salmon</name>
<affiliation wicri:level="1"><nlm:aff id="af12"><addr-line>Department of Medicine</addr-line>
,<institution>Weill Medical College of Cornell University</institution>
,<addr-line>New York, NY 10021</addr-line>
,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Monget, Philippe" sort="Monget, Philippe" uniqKey="Monget P" first="Philippe" last="Monget">Philippe Monget</name>
<affiliation wicri:level="1"><nlm:aff id="af13"><addr-line>INRA–CNRS</addr-line>
,<institution>Université de Tours—Haras Nationaux</institution>
,<addr-line>IFR 135, 37380 Nouzilly</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Veitia, Reiner A" sort="Veitia, Reiner A" uniqKey="Veitia R" first="Reiner A." last="Veitia">Reiner A. Veitia</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>Institut Cochin</addr-line>
,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>Inserm</institution>
,<addr-line>U1016 Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mehats, Celine" sort="Mehats, Celine" uniqKey="Mehats C" first="Céline" last="Méhats">Céline Méhats</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>Institut Cochin</addr-line>
,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>Inserm</institution>
,<addr-line>U1016 Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fellous, Marc" sort="Fellous, Marc" uniqKey="Fellous M" first="Marc" last="Fellous">Marc Fellous</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>Institut Cochin</addr-line>
,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>Inserm</institution>
,<addr-line>U1016 Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gris, Jean Christophe" sort="Gris, Jean Christophe" uniqKey="Gris J" first="Jean-Christophe" last="Gris">Jean-Christophe Gris</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><addr-line>Department of Haematology, University Hospital, Nîmes. Faculty of Pharmacy and Research Team EA 2992</addr-line>
,<institution>University of Montpellier</institution>
,<addr-line>Montpellier</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cocquet, Julie" sort="Cocquet, Julie" uniqKey="Cocquet J" first="Julie" last="Cocquet">Julie Cocquet</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>Institut Cochin</addr-line>
,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>Inserm</institution>
,<addr-line>U1016 Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vaiman, Daniel" sort="Vaiman, Daniel" uniqKey="Vaiman D" first="Daniel" last="Vaiman">Daniel Vaiman</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>Institut Cochin</addr-line>
,<institution>Université Paris Descartes</institution>
,<addr-line>CNRS (UMR 8104), Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><institution>Inserm</institution>
,<addr-line>U1016 Paris</addr-line>
,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Open Biology</title>
<idno type="eISSN">2046-2441</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Recurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that reproductive phenotypes should be considered as quantitative traits resulting from the intricate interaction of numerous genetic, epigenetic and environmental factors. Here, we studied an interspecific recombinant congenic strain (IRCS) of <italic>Mus musculus</italic>
from the C57BL6/J strain of mice harbouring an approximate 5 Mb DNA fragment from chromosome 13 from <italic>Mus spretus</italic>
mice (66H-MMU13 strain), with a high rate of embryonic resorption (ER). Transcriptome analyses of endometrial and placental tissues from these mice showed a deregulation of many genes associated with the coagulation and inflammatory response pathways. Bioinformatics approaches led us to select <italic>Foxd1</italic>
as a candidate gene potentially related to ER and RSA. Sequencing analysis of <italic>Foxd1</italic>
in the 66H-MMU13 strain, and in 556 women affected by RSA and 271 controls revealed non-synonymous sequence variants. <italic>In vitro</italic>
assays revealed that some led to perturbations in FOXD1 transactivation properties on promoters of genes having key roles during implantation/placentation, suggesting a role of this gene in mammalian implantation processes.</p>
</div>
</front>
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</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Smith, S" uniqKey="Smith S">S Smith</name>
</author>
<author><name sortKey="Pfeifer, Sm" uniqKey="Pfeifer S">SM Pfeifer</name>
</author>
<author><name sortKey="Collins, Ja" uniqKey="Collins J">JA Collins</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tulppala, M" uniqKey="Tulppala M">M Tulppala</name>
</author>
<author><name sortKey="Palosuo, T" uniqKey="Palosuo T">T Palosuo</name>
</author>
<author><name sortKey="Ramsay, T" uniqKey="Ramsay T">T Ramsay</name>
</author>
<author><name sortKey="Miettinen, A" uniqKey="Miettinen A">A Miettinen</name>
</author>
<author><name sortKey="Salonen, R" uniqKey="Salonen R">R Salonen</name>
</author>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rai, R" uniqKey="Rai R">R Rai</name>
</author>
<author><name sortKey="Regan, L" uniqKey="Regan L">L Regan</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Laird, Sm" uniqKey="Laird S">SM Laird</name>
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<author><name sortKey="Tuckerman, Em" uniqKey="Tuckerman E">EM Tuckerman</name>
</author>
<author><name sortKey="Cork, Ba" uniqKey="Cork B">BA Cork</name>
</author>
<author><name sortKey="Linjawi, S" uniqKey="Linjawi S">S Linjawi</name>
</author>
<author><name sortKey="Blakemore, Ai" uniqKey="Blakemore A">AI Blakemore</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Baek, Kh" uniqKey="Baek K">KH Baek</name>
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<author><name sortKey="Lee, Ej" uniqKey="Lee E">EJ Lee</name>
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<author><name sortKey="Kim, Ys" uniqKey="Kim Y">YS Kim</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Mercier, E" uniqKey="Mercier E">E Mercier</name>
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<author><name sortKey="Lissalde Lavigne, G" uniqKey="Lissalde Lavigne G">G Lissalde-Lavigne</name>
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