Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma
Identifieur interne : 003571 ( Main/Exploration ); précédent : 003570; suivant : 003572Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma
Auteurs : Kathryn R. Taylor [Royaume-Uni] ; Alan Mackay [Royaume-Uni] ; Nathalène Truffaux [France] ; Yaron Butterfield [Canada] ; Olena Morozova [États-Unis] ; Cathy Philippe [France] ; David Castel [France] ; Catherine S. Grasso [États-Unis] ; Maria Vinci [Royaume-Uni] ; Diana Carvalho [Royaume-Uni] ; Angel M. Carcaboso [Espagne] ; Carmen De Torres [Espagne] ; Ofelia Cruz [Espagne] ; Jaume Mora [Espagne] ; Natacha Entz-Werle [France] ; Wendy J. Ingram [Australie] ; Michelle Monje [États-Unis] ; Darren Hargrave [Royaume-Uni] ; Alex N. Bullock [Royaume-Uni] ; Stéphanie Puget [France] ; Stephen Yip [Canada] ; Chris Jones [Royaume-Uni] ; Jacques Grill [France]Source :
- Nature genetics [ 1061-4036 ] ; 2014.
Descripteurs français
- KwdFr :
- Analyse de séquence d'ADN, Données de séquences moléculaires, Enfant, Exome (génétique), Gliome (), Gliome (génétique), Génome humain (génétique), Humains, Mutation faux-sens (génétique), Myosite ossifiante (génétique), Récepteur activine, type 1 (génétique), Régulation de l'expression des gènes tumoraux (génétique), Séquence nucléotidique, Transduction du signal (génétique), Tumeurs du tronc cérébral (), Tumeurs du tronc cérébral (génétique), Études de cohortes.
- MESH :
- génétique : Exome, Gliome, Génome humain, Mutation faux-sens, Myosite ossifiante, Récepteur activine, type 1, Régulation de l'expression des gènes tumoraux, Transduction du signal, Tumeurs du tronc cérébral.
- Analyse de séquence d'ADN, Données de séquences moléculaires, Enfant, Gliome, Humains, Séquence nucléotidique, Tumeurs du tronc cérébral, Études de cohortes.
English descriptors
- KwdEn :
- Activin Receptors, Type I (genetics), Base Sequence, Brain Stem Neoplasms (classification), Brain Stem Neoplasms (genetics), Child, Cohort Studies, Exome (genetics), Gene Expression Regulation, Neoplastic (genetics), Genome, Human (genetics), Glioma (classification), Glioma (genetics), Humans, Molecular Sequence Data, Mutation, Missense (genetics), Myositis Ossificans (genetics), Sequence Analysis, DNA, Signal Transduction (genetics).
- MESH :
- chemical , genetics : Activin Receptors, Type I.
- classification : Brain Stem Neoplasms, Glioma.
- genetics : Brain Stem Neoplasms, Exome, Gene Expression Regulation, Neoplastic, Genome, Human, Glioma, Mutation, Missense, Myositis Ossificans, Signal Transduction.
- Base Sequence, Child, Cohort Studies, Humans, Molecular Sequence Data, Sequence Analysis, DNA.
Url:
DOI: 10.1038/ng.2925
PubMed: 24705252
PubMed Central: 4018681
Affiliations:
- Australie, Canada, Espagne, France, Royaume-Uni, États-Unis
- Alsace (région administrative), Angleterre, Californie, Catalogne, Grand Est, Grand Londres, Oregon, Oxfordshire, Île-de-France
- Barcelone, Londres, Oxford, Paris, Strasbourg
- Université d'Oxford
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Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Recurrent activating <italic>ACVR1</italic>
mutations in diffuse intrinsic pontine glioma</title>
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<wicri:regionArea>Centre Hospitalier Régional et Universitaire Hautepierre, Strasbourg</wicri:regionArea>
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<author><name sortKey="Hargrave, Darren" sort="Hargrave, Darren" uniqKey="Hargrave D" first="Darren" last="Hargrave">Darren Hargrave</name>
<affiliation wicri:level="3"><nlm:aff id="A11">Great Ormond Street Hospital, London, UK</nlm:aff>
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<wicri:regionArea>Structural Genomics Consortium, University of Oxford</wicri:regionArea>
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<author><name sortKey="Puget, Stephanie" sort="Puget, Stephanie" uniqKey="Puget S" first="Stéphanie" last="Puget">Stéphanie Puget</name>
<affiliation wicri:level="3"><nlm:aff id="A13">Necker Childrens Hospital, Paris, France</nlm:aff>
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<wicri:regionArea>Necker Childrens Hospital, Paris</wicri:regionArea>
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<author><name sortKey="Yip, Stephen" sort="Yip, Stephen" uniqKey="Yip S" first="Stephen" last="Yip">Stephen Yip</name>
<affiliation wicri:level="1"><nlm:aff id="A3">BC Cancer Agency, Vancouver, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>BC Cancer Agency, Vancouver</wicri:regionArea>
<wicri:noRegion>Vancouver</wicri:noRegion>
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<author><name sortKey="Jones, Chris" sort="Jones, Chris" uniqKey="Jones C" first="Chris" last="Jones">Chris Jones</name>
<affiliation wicri:level="3"><nlm:aff id="A1">Institute of Cancer Research, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Cancer Research, London</wicri:regionArea>
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<author><name sortKey="Grill, Jacques" sort="Grill, Jacques" uniqKey="Grill J" first="Jacques" last="Grill">Jacques Grill</name>
<affiliation wicri:level="1"><nlm:aff id="A2">Institut Gustav Roussy, Villejuif, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut Gustav Roussy, Villejuif</wicri:regionArea>
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<series><title level="j">Nature genetics</title>
<idno type="ISSN">1061-4036</idno>
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<term>Base Sequence</term>
<term>Brain Stem Neoplasms (classification)</term>
<term>Brain Stem Neoplasms (genetics)</term>
<term>Child</term>
<term>Cohort Studies</term>
<term>Exome (genetics)</term>
<term>Gene Expression Regulation, Neoplastic (genetics)</term>
<term>Genome, Human (genetics)</term>
<term>Glioma (classification)</term>
<term>Glioma (genetics)</term>
<term>Humans</term>
<term>Molecular Sequence Data</term>
<term>Mutation, Missense (genetics)</term>
<term>Myositis Ossificans (genetics)</term>
<term>Sequence Analysis, DNA</term>
<term>Signal Transduction (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Analyse de séquence d'ADN</term>
<term>Données de séquences moléculaires</term>
<term>Enfant</term>
<term>Exome (génétique)</term>
<term>Gliome ()</term>
<term>Gliome (génétique)</term>
<term>Génome humain (génétique)</term>
<term>Humains</term>
<term>Mutation faux-sens (génétique)</term>
<term>Myosite ossifiante (génétique)</term>
<term>Récepteur activine, type 1 (génétique)</term>
<term>Régulation de l'expression des gènes tumoraux (génétique)</term>
<term>Séquence nucléotidique</term>
<term>Transduction du signal (génétique)</term>
<term>Tumeurs du tronc cérébral ()</term>
<term>Tumeurs du tronc cérébral (génétique)</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Activin Receptors, Type I</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Brain Stem Neoplasms</term>
<term>Glioma</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Stem Neoplasms</term>
<term>Exome</term>
<term>Gene Expression Regulation, Neoplastic</term>
<term>Genome, Human</term>
<term>Glioma</term>
<term>Mutation, Missense</term>
<term>Myositis Ossificans</term>
<term>Signal Transduction</term>
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<term>Gliome</term>
<term>Génome humain</term>
<term>Mutation faux-sens</term>
<term>Myosite ossifiante</term>
<term>Récepteur activine, type 1</term>
<term>Régulation de l'expression des gènes tumoraux</term>
<term>Transduction du signal</term>
<term>Tumeurs du tronc cérébral</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Base Sequence</term>
<term>Child</term>
<term>Cohort Studies</term>
<term>Humans</term>
<term>Molecular Sequence Data</term>
<term>Sequence Analysis, DNA</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Analyse de séquence d'ADN</term>
<term>Données de séquences moléculaires</term>
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<term>Humains</term>
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<author><name sortKey="Perryman, L" uniqKey="Perryman L">L Perryman</name>
</author>
<author><name sortKey="Hargrave, D" uniqKey="Hargrave D">D Hargrave</name>
</author>
</analytic>
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<biblStruct><analytic><author><name sortKey="Katagiri, T" uniqKey="Katagiri T">T Katagiri</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Wu, G" uniqKey="Wu G">G Wu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lewis, Pw" uniqKey="Lewis P">PW Lewis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Roujeau, T" uniqKey="Roujeau T">T Roujeau</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schwartzentruber, J" uniqKey="Schwartzentruber J">J Schwartzentruber</name>
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</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Puget, S" uniqKey="Puget S">S Puget</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Paugh, Bs" uniqKey="Paugh B">BS Paugh</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Forbes, Sa" uniqKey="Forbes S">SA Forbes</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
<author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shore, Em" uniqKey="Shore E">EM Shore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bocciardi, R" uniqKey="Bocciardi R">R Bocciardi</name>
</author>
<author><name sortKey="Bordo, D" uniqKey="Bordo D">D Bordo</name>
</author>
<author><name sortKey="Di Duca, M" uniqKey="Di Duca M">M Di Duca</name>
</author>
<author><name sortKey="Di Rocco, M" uniqKey="Di Rocco M">M Di Rocco</name>
</author>
<author><name sortKey="Ravazzolo, R" uniqKey="Ravazzolo R">R Ravazzolo</name>
</author>
</analytic>
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<biblStruct><analytic><author><name sortKey="Petrie, Ka" uniqKey="Petrie K">KA Petrie</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fukuda, T" uniqKey="Fukuda T">T Fukuda</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kaplan, Fs" uniqKey="Kaplan F">FS Kaplan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chaikuad, A" uniqKey="Chaikuad A">A Chaikuad</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yu, Pb" uniqKey="Yu P">PB Yu</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tumolo, M" uniqKey="Tumolo M">M Tumolo</name>
</author>
<author><name sortKey="Moscatelli, A" uniqKey="Moscatelli A">A Moscatelli</name>
</author>
<author><name sortKey="Silvestri, G" uniqKey="Silvestri G">G Silvestri</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kan, L" uniqKey="Kan L">L Kan</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yu, Pb" uniqKey="Yu P">PB Yu</name>
</author>
</analytic>
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<li>France</li>
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</country>
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<name sortKey="Yip, Stephen" sort="Yip, Stephen" uniqKey="Yip S" first="Stephen" last="Yip">Stephen Yip</name>
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<country name="États-Unis"><region name="Californie"><name sortKey="Morozova, Olena" sort="Morozova, Olena" uniqKey="Morozova O" first="Olena" last="Morozova">Olena Morozova</name>
</region>
<name sortKey="Grasso, Catherine S" sort="Grasso, Catherine S" uniqKey="Grasso C" first="Catherine S" last="Grasso">Catherine S. Grasso</name>
<name sortKey="Monje, Michelle" sort="Monje, Michelle" uniqKey="Monje M" first="Michelle" last="Monje">Michelle Monje</name>
<name sortKey="Morozova, Olena" sort="Morozova, Olena" uniqKey="Morozova O" first="Olena" last="Morozova">Olena Morozova</name>
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<country name="Espagne"><region name="Catalogne"><name sortKey="Carcaboso, Angel M" sort="Carcaboso, Angel M" uniqKey="Carcaboso A" first="Angel M" last="Carcaboso">Angel M. Carcaboso</name>
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<country name="Australie"><noRegion><name sortKey="Ingram, Wendy J" sort="Ingram, Wendy J" uniqKey="Ingram W" first="Wendy J" last="Ingram">Wendy J. Ingram</name>
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