Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
Identifieur interne : 002545 ( Main/Exploration ); précédent : 002544; suivant : 002546Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
Auteurs : Jacqueline K. Rainger [Royaume-Uni] ; Shipra Bhatia [Royaume-Uni] ; Hemant Bengani [Royaume-Uni] ; Philippe Gautier [Royaume-Uni] ; Joe Rainger [Royaume-Uni] ; Matt Pearson [Royaume-Uni] ; Morad Ansari [Royaume-Uni] ; Jayne Crow [Royaume-Uni] ; Felicity Mehendale [Royaume-Uni] ; Bozena Palinkasova [Royaume-Uni] ; Michael J. Dixon [Royaume-Uni] ; Pamela J. Thompson [Royaume-Uni] ; Mar Matarin [Royaume-Uni] ; Sanjay M. Sisodiya [Royaume-Uni] ; Dirk A. Kleinjan [Royaume-Uni] ; David R. Fitzpatrick [Royaume-Uni]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2013.
Abstract
Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3′ of
Url:
DOI: 10.1093/hmg/ddt647
PubMed: 24363063
PubMed Central: 3990159
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002C74
- to stream Pmc, to step Curation: 002C74
- to stream Pmc, to step Checkpoint: 001A55
- to stream Ncbi, to step Merge: 004C50
- to stream Ncbi, to step Curation: 004C50
- to stream Ncbi, to step Checkpoint: 004C50
- to stream Main, to step Merge: 002556
- to stream Main, to step Curation: 002545
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Disruption of <italic>SATB2</italic>
or its long-range <italic>cis</italic>
-regulation by SOX9 causes a syndromic form of Pierre Robin sequence</title>
<author><name sortKey="Rainger, Jacqueline K" sort="Rainger, Jacqueline K" uniqKey="Rainger J" first="Jacqueline K." last="Rainger">Jacqueline K. Rainger</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bhatia, Shipra" sort="Bhatia, Shipra" uniqKey="Bhatia S" first="Shipra" last="Bhatia">Shipra Bhatia</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bengani, Hemant" sort="Bengani, Hemant" uniqKey="Bengani H" first="Hemant" last="Bengani">Hemant Bengani</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gautier, Philippe" sort="Gautier, Philippe" uniqKey="Gautier P" first="Philippe" last="Gautier">Philippe Gautier</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rainger, Joe" sort="Rainger, Joe" uniqKey="Rainger J" first="Joe" last="Rainger">Joe Rainger</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pearson, Matt" sort="Pearson, Matt" uniqKey="Pearson M" first="Matt" last="Pearson">Matt Pearson</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ansari, Morad" sort="Ansari, Morad" uniqKey="Ansari M" first="Morad" last="Ansari">Morad Ansari</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Crow, Jayne" sort="Crow, Jayne" uniqKey="Crow J" first="Jayne" last="Crow">Jayne Crow</name>
<affiliation wicri:level="1"><nlm:aff id="af2"><addr-line>Adult Learning Disability Services</addr-line>
,<institution>Lothian University Hospitals Trust</institution>
,<addr-line>65 Morningside Drive, Edinburgh EH10 5NQ</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mehendale, Felicity" sort="Mehendale, Felicity" uniqKey="Mehendale F" first="Felicity" last="Mehendale">Felicity Mehendale</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Cleft Lip and Palate Service</addr-line>
,<institution>Royal Hospital for Sick Children</institution>
,<addr-line>Edinburgh EH9 1LF</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Palinkasova, Bozena" sort="Palinkasova, Bozena" uniqKey="Palinkasova B" first="Bozena" last="Palinkasova">Bozena Palinkasova</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Faculty of Medical and Human Sciences, Michael Smith Building</addr-line>
,<institution>University of Manchester</institution>
,<addr-line>Oxford Road, Manchester M13 9PT</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dixon, Michael J" sort="Dixon, Michael J" uniqKey="Dixon M" first="Michael J." last="Dixon">Michael J. Dixon</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Faculty of Medical and Human Sciences, Michael Smith Building</addr-line>
,<institution>University of Manchester</institution>
,<addr-line>Oxford Road, Manchester M13 9PT</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thompson, Pamela J" sort="Thompson, Pamela J" uniqKey="Thompson P" first="Pamela J." last="Thompson">Pamela J. Thompson</name>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Clinical and Experimental Epilepsy</addr-line>
,<institution>National Hospital for Neurology and Neurosurgery</institution>
,<addr-line>Queen Square, London WC1N 3BG</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6"><institution>Epilepsy Society</institution>
,<addr-line>Chalfont-St-Peter, Buckinghamshire</addr-line>
<addr-line>SL9 0RJ</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matarin, Mar" sort="Matarin, Mar" uniqKey="Matarin M" first="Mar" last="Matarin">Mar Matarin</name>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Clinical and Experimental Epilepsy</addr-line>
,<institution>National Hospital for Neurology and Neurosurgery</institution>
,<addr-line>Queen Square, London WC1N 3BG</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Clinical and Experimental Epilepsy</addr-line>
,<institution>National Hospital for Neurology and Neurosurgery</institution>
,<addr-line>Queen Square, London WC1N 3BG</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6"><institution>Epilepsy Society</institution>
,<addr-line>Chalfont-St-Peter, Buckinghamshire</addr-line>
<addr-line>SL9 0RJ</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleinjan, Dirk A" sort="Kleinjan, Dirk A" uniqKey="Kleinjan D" first="Dirk A." last="Kleinjan">Dirk A. Kleinjan</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fitzpatrick, David R" sort="Fitzpatrick, David R" uniqKey="Fitzpatrick D" first="David R." last="Fitzpatrick">David R. Fitzpatrick</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24363063</idno>
<idno type="pmc">3990159</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990159</idno>
<idno type="RBID">PMC:3990159</idno>
<idno type="doi">10.1093/hmg/ddt647</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">002C74</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002C74</idno>
<idno type="wicri:Area/Pmc/Curation">002C74</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002C74</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001A55</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001A55</idno>
<idno type="wicri:Area/Ncbi/Merge">004C50</idno>
<idno type="wicri:Area/Ncbi/Curation">004C50</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">004C50</idno>
<idno type="wicri:Area/Main/Merge">002556</idno>
<idno type="wicri:Area/Main/Curation">002545</idno>
<idno type="wicri:Area/Main/Exploration">002545</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Disruption of <italic>SATB2</italic>
or its long-range <italic>cis</italic>
-regulation by SOX9 causes a syndromic form of Pierre Robin sequence</title>
<author><name sortKey="Rainger, Jacqueline K" sort="Rainger, Jacqueline K" uniqKey="Rainger J" first="Jacqueline K." last="Rainger">Jacqueline K. Rainger</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bhatia, Shipra" sort="Bhatia, Shipra" uniqKey="Bhatia S" first="Shipra" last="Bhatia">Shipra Bhatia</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bengani, Hemant" sort="Bengani, Hemant" uniqKey="Bengani H" first="Hemant" last="Bengani">Hemant Bengani</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gautier, Philippe" sort="Gautier, Philippe" uniqKey="Gautier P" first="Philippe" last="Gautier">Philippe Gautier</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Rainger, Joe" sort="Rainger, Joe" uniqKey="Rainger J" first="Joe" last="Rainger">Joe Rainger</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pearson, Matt" sort="Pearson, Matt" uniqKey="Pearson M" first="Matt" last="Pearson">Matt Pearson</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ansari, Morad" sort="Ansari, Morad" uniqKey="Ansari M" first="Morad" last="Ansari">Morad Ansari</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Crow, Jayne" sort="Crow, Jayne" uniqKey="Crow J" first="Jayne" last="Crow">Jayne Crow</name>
<affiliation wicri:level="1"><nlm:aff id="af2"><addr-line>Adult Learning Disability Services</addr-line>
,<institution>Lothian University Hospitals Trust</institution>
,<addr-line>65 Morningside Drive, Edinburgh EH10 5NQ</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mehendale, Felicity" sort="Mehendale, Felicity" uniqKey="Mehendale F" first="Felicity" last="Mehendale">Felicity Mehendale</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Cleft Lip and Palate Service</addr-line>
,<institution>Royal Hospital for Sick Children</institution>
,<addr-line>Edinburgh EH9 1LF</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Palinkasova, Bozena" sort="Palinkasova, Bozena" uniqKey="Palinkasova B" first="Bozena" last="Palinkasova">Bozena Palinkasova</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Faculty of Medical and Human Sciences, Michael Smith Building</addr-line>
,<institution>University of Manchester</institution>
,<addr-line>Oxford Road, Manchester M13 9PT</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dixon, Michael J" sort="Dixon, Michael J" uniqKey="Dixon M" first="Michael J." last="Dixon">Michael J. Dixon</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Faculty of Medical and Human Sciences, Michael Smith Building</addr-line>
,<institution>University of Manchester</institution>
,<addr-line>Oxford Road, Manchester M13 9PT</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Thompson, Pamela J" sort="Thompson, Pamela J" uniqKey="Thompson P" first="Pamela J." last="Thompson">Pamela J. Thompson</name>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Clinical and Experimental Epilepsy</addr-line>
,<institution>National Hospital for Neurology and Neurosurgery</institution>
,<addr-line>Queen Square, London WC1N 3BG</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6"><institution>Epilepsy Society</institution>
,<addr-line>Chalfont-St-Peter, Buckinghamshire</addr-line>
<addr-line>SL9 0RJ</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Matarin, Mar" sort="Matarin, Mar" uniqKey="Matarin M" first="Mar" last="Matarin">Mar Matarin</name>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Clinical and Experimental Epilepsy</addr-line>
,<institution>National Hospital for Neurology and Neurosurgery</institution>
,<addr-line>Queen Square, London WC1N 3BG</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Clinical and Experimental Epilepsy</addr-line>
,<institution>National Hospital for Neurology and Neurosurgery</institution>
,<addr-line>Queen Square, London WC1N 3BG</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af6"><institution>Epilepsy Society</institution>
,<addr-line>Chalfont-St-Peter, Buckinghamshire</addr-line>
<addr-line>SL9 0RJ</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kleinjan, Dirk A" sort="Kleinjan, Dirk A" uniqKey="Kleinjan D" first="Dirk A." last="Kleinjan">Dirk A. Kleinjan</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fitzpatrick, David R" sort="Fitzpatrick, David R" uniqKey="Fitzpatrick D" first="David R." last="Fitzpatrick">David R. Fitzpatrick</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>MRC Human Genetics Unit</addr-line>
,<institution>MRC Institute of Genetic and Molecular Medicine</institution>
,<institution>University of Edinburgh</institution>
,<addr-line>Edinburgh EH4 2XU</addr-line>
,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Human Molecular Genetics</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3′ of <italic>SATB2</italic>
polyadenylation site cause a phenotype which is indistinguishable from that caused by <italic>SATB2</italic>
LOF mutations. This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between <italic>PLCL1</italic>
and <italic>SATB2.</italic>
We identified three putative <italic>cis</italic>
-regulatory elements (CRE1–3) using a comparative genomic approach each of which would be placed in <italic>trans</italic>
relative to <italic>SATB2</italic>
by all three BPs. CRE1–3 each bind p300 and mono-methylated H3K4 consistent with enhancer function. <italic>In silico</italic>
analysis suggested that CRE1–3 contain one or more conserved SOX9-binding sites, and this binding was confirmed using chromatin immunoprecipitation on cells derived from mouse embryonic pharyngeal arch. Interphase bacterial artificial chromosome fluorescence <italic>in situ</italic>
hybridization measurements in embryonic craniofacial tissues showed that the orthologous region in mice exhibits <italic>Satb2</italic>
expression-dependent chromatin decondensation consistent with <italic>Satb2</italic>
being a target gene of CRE1–3. To assess their <italic>in vivo</italic>
function, we made multiple stable reporter transgenic lines for each enhancer in zebrafish. CRE2 was shown to drive <italic>SATB2</italic>
-like expression in the embryonic craniofacial region. This expression could be eliminated by mutating the <italic>SOX9</italic>
-binding site of CRE2. These observations suggest that <italic>SATB2</italic>
and <italic>SOX9</italic>
may be acting together via complex <italic>cis</italic>
-regulation to coordinate the growth of the developing jaw.</p>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Robin, P" uniqKey="Robin P">P. Robin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Robin, P" uniqKey="Robin P">P. Robin</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Warkany, J" uniqKey="Warkany J">J. Warkany</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Lee, K H" uniqKey="Lee K">K.H. Lee</name>
</author>
<author><name sortKey="Hayward, P" uniqKey="Hayward P">P. Hayward</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Marques, I L" uniqKey="Marques I">I.L. Marques</name>
</author>
<author><name sortKey="Barbieri, M A" uniqKey="Barbieri M">M.A. Barbieri</name>
</author>
<author><name sortKey="Bettiol, H" uniqKey="Bettiol H">H. Bettiol</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sheffield, L J" uniqKey="Sheffield L">L.J. Sheffield</name>
</author>
<author><name sortKey="Reiss, J A" uniqKey="Reiss J">J.A. Reiss</name>
</author>
<author><name sortKey="Strohm, K" uniqKey="Strohm K">K. Strohm</name>
</author>
<author><name sortKey="Gilding, M" uniqKey="Gilding M">M. Gilding</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Benko, S" uniqKey="Benko S">S. Benko</name>
</author>
<author><name sortKey="Fantes, J A" uniqKey="Fantes J">J.A. Fantes</name>
</author>
<author><name sortKey="Amiel, J" uniqKey="Amiel J">J. Amiel</name>
</author>
<author><name sortKey="Kleinjan, D J" uniqKey="Kleinjan D">D.J. Kleinjan</name>
</author>
<author><name sortKey="Thomas, S" uniqKey="Thomas S">S. Thomas</name>
</author>
<author><name sortKey="Ramsay, J" uniqKey="Ramsay J">J. Ramsay</name>
</author>
<author><name sortKey="Jamshidi, N" uniqKey="Jamshidi N">N. Jamshidi</name>
</author>
<author><name sortKey="Essafi, A" uniqKey="Essafi A">A. Essafi</name>
</author>
<author><name sortKey="Heaney, S" uniqKey="Heaney S">S. Heaney</name>
</author>
<author><name sortKey="Gordon, C T" uniqKey="Gordon C">C.T. Gordon</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Bridgewater, L C" uniqKey="Bridgewater L">L.C. Bridgewater</name>
</author>
<author><name sortKey="Lefebvre, V" uniqKey="Lefebvre V">V. Lefebvre</name>
</author>
<author><name sortKey="De Crombrugghe, B" uniqKey="De Crombrugghe B">B. de Crombrugghe</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Brewer, C M" uniqKey="Brewer C">C.M. Brewer</name>
</author>
<author><name sortKey="Leek, J P" uniqKey="Leek J">J.P. Leek</name>
</author>
<author><name sortKey="Green, A J" uniqKey="Green A">A.J. Green</name>
</author>
<author><name sortKey="Holloway, S" uniqKey="Holloway S">S. Holloway</name>
</author>
<author><name sortKey="Bonthron, D T" uniqKey="Bonthron D">D.T. Bonthron</name>
</author>
<author><name sortKey="Markham, A F" uniqKey="Markham A">A.F. Markham</name>
</author>
<author><name sortKey="Fitzpatrick, D R" uniqKey="Fitzpatrick D">D.R. FitzPatrick</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fitzpatrick, D R" uniqKey="Fitzpatrick D">D.R. FitzPatrick</name>
</author>
<author><name sortKey="Carr, I M" uniqKey="Carr I">I.M. Carr</name>
</author>
<author><name sortKey="Mclaren, L" uniqKey="Mclaren L">L. McLaren</name>
</author>
<author><name sortKey="Leek, J P" uniqKey="Leek J">J.P. Leek</name>
</author>
<author><name sortKey="Wightman, P" uniqKey="Wightman P">P. Wightman</name>
</author>
<author><name sortKey="Williamson, K" uniqKey="Williamson K">K. Williamson</name>
</author>
<author><name sortKey="Gautier, P" uniqKey="Gautier P">P. Gautier</name>
</author>
<author><name sortKey="Mcgill, N" uniqKey="Mcgill N">N. McGill</name>
</author>
<author><name sortKey="Hayward, C" uniqKey="Hayward C">C. Hayward</name>
</author>
<author><name sortKey="Firth, H" uniqKey="Firth H">H. Firth</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Tegay, D H" uniqKey="Tegay D">D.H. Tegay</name>
</author>
<author><name sortKey="Chan, K K" uniqKey="Chan K">K.K. Chan</name>
</author>
<author><name sortKey="Leung, L" uniqKey="Leung L">L. Leung</name>
</author>
<author><name sortKey="Wang, C" uniqKey="Wang C">C. Wang</name>
</author>
<author><name sortKey="Burkett, S" uniqKey="Burkett S">S. Burkett</name>
</author>
<author><name sortKey="Stone, G" uniqKey="Stone G">G. Stone</name>
</author>
<author><name sortKey="Stanyon, R" uniqKey="Stanyon R">R. Stanyon</name>
</author>
<author><name sortKey="Toriello, H V" uniqKey="Toriello H">H.V. Toriello</name>
</author>
<author><name sortKey="Hatchwell, E" uniqKey="Hatchwell E">E. Hatchwell</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Baptista, J" uniqKey="Baptista J">J. Baptista</name>
</author>
<author><name sortKey="Mercer, C" uniqKey="Mercer C">C. Mercer</name>
</author>
<author><name sortKey="Prigmore, E" uniqKey="Prigmore E">E. Prigmore</name>
</author>
<author><name sortKey="Gribble, S M" uniqKey="Gribble S">S.M. Gribble</name>
</author>
<author><name sortKey="Carter, N P" uniqKey="Carter N">N.P. Carter</name>
</author>
<author><name sortKey="Maloney, V" uniqKey="Maloney V">V. Maloney</name>
</author>
<author><name sortKey="Thomas, N S" uniqKey="Thomas N">N.S. Thomas</name>
</author>
<author><name sortKey="Jacobs, P A" uniqKey="Jacobs P">P.A. Jacobs</name>
</author>
<author><name sortKey="Crolla, J A" uniqKey="Crolla J">J.A. Crolla</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Balasubramanian, M" uniqKey="Balasubramanian M">M. Balasubramanian</name>
</author>
<author><name sortKey="Smith, K" uniqKey="Smith K">K. Smith</name>
</author>
<author><name sortKey="Basel Vanagaite, L" uniqKey="Basel Vanagaite L">L. Basel-Vanagaite</name>
</author>
<author><name sortKey="Feingold, M F" uniqKey="Feingold M">M.F. Feingold</name>
</author>
<author><name sortKey="Brock, P" uniqKey="Brock P">P. Brock</name>
</author>
<author><name sortKey="Gowans, G C" uniqKey="Gowans G">G.C. Gowans</name>
</author>
<author><name sortKey="Vasudevan, P C" uniqKey="Vasudevan P">P.C. Vasudevan</name>
</author>
<author><name sortKey="Cresswell, L" uniqKey="Cresswell L">L. Cresswell</name>
</author>
<author><name sortKey="Taylor, E J" uniqKey="Taylor E">E.J. Taylor</name>
</author>
<author><name sortKey="Harris, C J" uniqKey="Harris C">C.J. Harris</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Urquhart, J" uniqKey="Urquhart J">J. Urquhart</name>
</author>
<author><name sortKey="Black, G C" uniqKey="Black G">G.C. Black</name>
</author>
<author><name sortKey="Clayton Smith, J" uniqKey="Clayton Smith J">J. Clayton-Smith</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Van Buggenhout, G" uniqKey="Van Buggenhout G">G. Van Buggenhout</name>
</author>
<author><name sortKey="Van Ravenswaaij Arts, C" uniqKey="Van Ravenswaaij Arts C">C. Van Ravenswaaij-Arts</name>
</author>
<author><name sortKey="Mc Maas, N" uniqKey="Mc Maas N">N. Mc Maas</name>
</author>
<author><name sortKey="Thoelen, R" uniqKey="Thoelen R">R. Thoelen</name>
</author>
<author><name sortKey="Vogels, A" uniqKey="Vogels A">A. Vogels</name>
</author>
<author><name sortKey="Smeets, D" uniqKey="Smeets D">D. Smeets</name>
</author>
<author><name sortKey="Salden, I" uniqKey="Salden I">I. Salden</name>
</author>
<author><name sortKey="Matthijs, G" uniqKey="Matthijs G">G. Matthijs</name>
</author>
<author><name sortKey="Fryns, J P" uniqKey="Fryns J">J.P. Fryns</name>
</author>
<author><name sortKey="Vermeesch, J R" uniqKey="Vermeesch J">J.R. Vermeesch</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rosenfeld, J A" uniqKey="Rosenfeld J">J.A. Rosenfeld</name>
</author>
<author><name sortKey="Ballif, B C" uniqKey="Ballif B">B.C. Ballif</name>
</author>
<author><name sortKey="Lucas, A" uniqKey="Lucas A">A. Lucas</name>
</author>
<author><name sortKey="Spence, E J" uniqKey="Spence E">E.J. Spence</name>
</author>
<author><name sortKey="Powell, C" uniqKey="Powell C">C. Powell</name>
</author>
<author><name sortKey="Aylsworth, A S" uniqKey="Aylsworth A">A.S. Aylsworth</name>
</author>
<author><name sortKey="Torchia, B A" uniqKey="Torchia B">B.A. Torchia</name>
</author>
<author><name sortKey="Shaffer, L G" uniqKey="Shaffer L">L.G. Shaffer</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Leoyklang, P" uniqKey="Leoyklang P">P. Leoyklang</name>
</author>
<author><name sortKey="Suphapeetiporn, K" uniqKey="Suphapeetiporn K">K. Suphapeetiporn</name>
</author>
<author><name sortKey="Siriwan, P" uniqKey="Siriwan P">P. Siriwan</name>
</author>
<author><name sortKey="Desudchit, T" uniqKey="Desudchit T">T. Desudchit</name>
</author>
<author><name sortKey="Chaowanapanja, P" uniqKey="Chaowanapanja P">P. Chaowanapanja</name>
</author>
<author><name sortKey="Gahl, W A" uniqKey="Gahl W">W.A. Gahl</name>
</author>
<author><name sortKey="Shotelersuk, V" uniqKey="Shotelersuk V">V. Shotelersuk</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Dobreva, G" uniqKey="Dobreva G">G. Dobreva</name>
</author>
<author><name sortKey="Dambacher, J" uniqKey="Dambacher J">J. Dambacher</name>
</author>
<author><name sortKey="Grosschedl, R" uniqKey="Grosschedl R">R. Grosschedl</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Dobreva, G" uniqKey="Dobreva G">G. Dobreva</name>
</author>
<author><name sortKey="Chahrour, M" uniqKey="Chahrour M">M. Chahrour</name>
</author>
<author><name sortKey="Dautzenberg, M" uniqKey="Dautzenberg M">M. Dautzenberg</name>
</author>
<author><name sortKey="Chirivella, L" uniqKey="Chirivella L">L. Chirivella</name>
</author>
<author><name sortKey="Kanzler, B" uniqKey="Kanzler B">B. Kanzler</name>
</author>
<author><name sortKey="Farinas, I" uniqKey="Farinas I">I. Farinas</name>
</author>
<author><name sortKey="Karsenty, G" uniqKey="Karsenty G">G. Karsenty</name>
</author>
<author><name sortKey="Grosschedl, R" uniqKey="Grosschedl R">R. Grosschedl</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Alcamo, E A" uniqKey="Alcamo E">E.A. Alcamo</name>
</author>
<author><name sortKey="Chirivella, L" uniqKey="Chirivella L">L. Chirivella</name>
</author>
<author><name sortKey="Dautzenberg, M" uniqKey="Dautzenberg M">M. Dautzenberg</name>
</author>
<author><name sortKey="Dobreva, G" uniqKey="Dobreva G">G. Dobreva</name>
</author>
<author><name sortKey="Farinas, I" uniqKey="Farinas I">I. Farinas</name>
</author>
<author><name sortKey="Grosschedl, R" uniqKey="Grosschedl R">R. Grosschedl</name>
</author>
<author><name sortKey="Mcconnell, S K" uniqKey="Mcconnell S">S.K. McConnell</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fishell, G" uniqKey="Fishell G">G. Fishell</name>
</author>
<author><name sortKey="Hanashima, C" uniqKey="Hanashima C">C. Hanashima</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kolzer, S" uniqKey="Kolzer S">S. Kolzer</name>
</author>
<author><name sortKey="Fuss, B" uniqKey="Fuss B">B. Fuss</name>
</author>
<author><name sortKey="Hoch, M" uniqKey="Hoch M">M. Hoch</name>
</author>
<author><name sortKey="Klein, T" uniqKey="Klein T">T. Klein</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Shirai, T" uniqKey="Shirai T">T. Shirai</name>
</author>
<author><name sortKey="Yorimitsu, T" uniqKey="Yorimitsu T">T. Yorimitsu</name>
</author>
<author><name sortKey="Kiritooshi, N" uniqKey="Kiritooshi N">N. Kiritooshi</name>
</author>
<author><name sortKey="Matsuzaki, F" uniqKey="Matsuzaki F">F. Matsuzaki</name>
</author>
<author><name sortKey="Nakagoshi, H" uniqKey="Nakagoshi H">H. Nakagoshi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Yorimitsu, T" uniqKey="Yorimitsu T">T. Yorimitsu</name>
</author>
<author><name sortKey="Kiritooshi, N" uniqKey="Kiritooshi N">N. Kiritooshi</name>
</author>
<author><name sortKey="Nakagoshi, H" uniqKey="Nakagoshi H">H. Nakagoshi</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Fantes, J A" uniqKey="Fantes J">J.A. Fantes</name>
</author>
<author><name sortKey="Boland, E" uniqKey="Boland E">E. Boland</name>
</author>
<author><name sortKey="Ramsay, J" uniqKey="Ramsay J">J. Ramsay</name>
</author>
<author><name sortKey="Donnai, D" uniqKey="Donnai D">D. Donnai</name>
</author>
<author><name sortKey="Splitt, M" uniqKey="Splitt M">M. Splitt</name>
</author>
<author><name sortKey="Goodship, J A" uniqKey="Goodship J">J.A. Goodship</name>
</author>
<author><name sortKey="Stewart, H" uniqKey="Stewart H">H. Stewart</name>
</author>
<author><name sortKey="Whiteford, M" uniqKey="Whiteford M">M. Whiteford</name>
</author>
<author><name sortKey="Gautier, P" uniqKey="Gautier P">P. Gautier</name>
</author>
<author><name sortKey="Harewood, L" uniqKey="Harewood L">L. Harewood</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ragge, N K" uniqKey="Ragge N">N.K. Ragge</name>
</author>
<author><name sortKey="Lorenz, B" uniqKey="Lorenz B">B. Lorenz</name>
</author>
<author><name sortKey="Schneider, A" uniqKey="Schneider A">A. Schneider</name>
</author>
<author><name sortKey="Bushby, K" uniqKey="Bushby K">K. Bushby</name>
</author>
<author><name sortKey="De Sanctis, L" uniqKey="De Sanctis L">L. de Sanctis</name>
</author>
<author><name sortKey="De Sanctis, U" uniqKey="De Sanctis U">U. de Sanctis</name>
</author>
<author><name sortKey="Salt, A" uniqKey="Salt A">A. Salt</name>
</author>
<author><name sortKey="Collin, J R" uniqKey="Collin J">J.R. Collin</name>
</author>
<author><name sortKey="Vivian, A J" uniqKey="Vivian A">A.J. Vivian</name>
</author>
<author><name sortKey="Free, S L" uniqKey="Free S">S.L. Free</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ghassibe Sabbagh, M" uniqKey="Ghassibe Sabbagh M">M. Ghassibe-Sabbagh</name>
</author>
<author><name sortKey="Desmyter, L" uniqKey="Desmyter L">L. Desmyter</name>
</author>
<author><name sortKey="Langenberg, T" uniqKey="Langenberg T">T. Langenberg</name>
</author>
<author><name sortKey="Claes, F" uniqKey="Claes F">F. Claes</name>
</author>
<author><name sortKey="Boute, O" uniqKey="Boute O">O. Boute</name>
</author>
<author><name sortKey="Bayet, B" uniqKey="Bayet B">B. Bayet</name>
</author>
<author><name sortKey="Pellerin, P" uniqKey="Pellerin P">P. Pellerin</name>
</author>
<author><name sortKey="Hermans, K" uniqKey="Hermans K">K. Hermans</name>
</author>
<author><name sortKey="Backx, L" uniqKey="Backx L">L. Backx</name>
</author>
<author><name sortKey="Mansilla, M A" uniqKey="Mansilla M">M.A. Mansilla</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ghassibe, M" uniqKey="Ghassibe M">M. Ghassibé</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rauch, A" uniqKey="Rauch A">A. Rauch</name>
</author>
<author><name sortKey="Wieczorek, D" uniqKey="Wieczorek D">D. Wieczorek</name>
</author>
<author><name sortKey="Graf, E" uniqKey="Graf E">E. Graf</name>
</author>
<author><name sortKey="Wieland, T" uniqKey="Wieland T">T. Wieland</name>
</author>
<author><name sortKey="Endele, S" uniqKey="Endele S">S. Endele</name>
</author>
<author><name sortKey="Schwarzmayr, T" uniqKey="Schwarzmayr T">T. Schwarzmayr</name>
</author>
<author><name sortKey="Albrecht, B" uniqKey="Albrecht B">B. Albrecht</name>
</author>
<author><name sortKey="Bartholdi, D" uniqKey="Bartholdi D">D. Bartholdi</name>
</author>
<author><name sortKey="Beygo, J" uniqKey="Beygo J">J. Beygo</name>
</author>
<author><name sortKey="Di Donato, N" uniqKey="Di Donato N">N. Di Donato</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Rada Iglesias, A" uniqKey="Rada Iglesias A">A. Rada-Iglesias</name>
</author>
<author><name sortKey="Bajpai, R" uniqKey="Bajpai R">R. Bajpai</name>
</author>
<author><name sortKey="Swigut, T" uniqKey="Swigut T">T. Swigut</name>
</author>
<author><name sortKey="Brugmann, S A" uniqKey="Brugmann S">S.A. Brugmann</name>
</author>
<author><name sortKey="Flynn, R A" uniqKey="Flynn R">R.A. Flynn</name>
</author>
<author><name sortKey="Wysocka, J" uniqKey="Wysocka J">J. Wysocka</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Oh, C D" uniqKey="Oh C">C.D. Oh</name>
</author>
<author><name sortKey="Maity, S N" uniqKey="Maity S">S.N. Maity</name>
</author>
<author><name sortKey="Lu, J F" uniqKey="Lu J">J.F. Lu</name>
</author>
<author><name sortKey="Zhang, J" uniqKey="Zhang J">J. Zhang</name>
</author>
<author><name sortKey="Liang, S" uniqKey="Liang S">S. Liang</name>
</author>
<author><name sortKey="Coustry, F" uniqKey="Coustry F">F. Coustry</name>
</author>
<author><name sortKey="De Crombrugghe, B" uniqKey="De Crombrugghe B">B. de Crombrugghe</name>
</author>
<author><name sortKey="Yasuda, H" uniqKey="Yasuda H">H. Yasuda</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Kleinjan, D J" uniqKey="Kleinjan D">D.J. Kleinjan</name>
</author>
<author><name sortKey="Van Heyningen, V" uniqKey="Van Heyningen V">V. van Heyningen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Roessler, E" uniqKey="Roessler E">E. Roessler</name>
</author>
<author><name sortKey="Ward, D E" uniqKey="Ward D">D.E. Ward</name>
</author>
<author><name sortKey="Gaudenz, K" uniqKey="Gaudenz K">K. Gaudenz</name>
</author>
<author><name sortKey="Belloni, E" uniqKey="Belloni E">E. Belloni</name>
</author>
<author><name sortKey="Scherer, S W" uniqKey="Scherer S">S.W. Scherer</name>
</author>
<author><name sortKey="Donnai, D" uniqKey="Donnai D">D. Donnai</name>
</author>
<author><name sortKey="Siegel Bartelt, J" uniqKey="Siegel Bartelt J">J. Siegel-Bartelt</name>
</author>
<author><name sortKey="Tsui, L C" uniqKey="Tsui L">L.C. Tsui</name>
</author>
<author><name sortKey="Muenke, M" uniqKey="Muenke M">M. Muenke</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Clarke, S L" uniqKey="Clarke S">S.L. Clarke</name>
</author>
<author><name sortKey="Vandermeer, J E" uniqKey="Vandermeer J">J.E. VanderMeer</name>
</author>
<author><name sortKey="Wenger, A M" uniqKey="Wenger A">A.M. Wenger</name>
</author>
<author><name sortKey="Schaar, B T" uniqKey="Schaar B">B.T. Schaar</name>
</author>
<author><name sortKey="Ahituv, N" uniqKey="Ahituv N">N. Ahituv</name>
</author>
<author><name sortKey="Bejerano, G" uniqKey="Bejerano G">G. Bejerano</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Woolfe, A" uniqKey="Woolfe A">A. Woolfe</name>
</author>
<author><name sortKey="Goodson, M" uniqKey="Goodson M">M. Goodson</name>
</author>
<author><name sortKey="Goode, D K" uniqKey="Goode D">D.K. Goode</name>
</author>
<author><name sortKey="Snell, P" uniqKey="Snell P">P. Snell</name>
</author>
<author><name sortKey="Mcewen, G K" uniqKey="Mcewen G">G.K. McEwen</name>
</author>
<author><name sortKey="Vavouri, T" uniqKey="Vavouri T">T. Vavouri</name>
</author>
<author><name sortKey="Smith, S F" uniqKey="Smith S">S.F. Smith</name>
</author>
<author><name sortKey="North, P" uniqKey="North P">P. North</name>
</author>
<author><name sortKey="Callaway, H" uniqKey="Callaway H">H. Callaway</name>
</author>
<author><name sortKey="Kelly, K" uniqKey="Kelly K">K. Kelly</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Visel, A" uniqKey="Visel A">A. Visel</name>
</author>
<author><name sortKey="Blow, M J" uniqKey="Blow M">M.J. Blow</name>
</author>
<author><name sortKey="Li, Z" uniqKey="Li Z">Z. Li</name>
</author>
<author><name sortKey="Zhang, T" uniqKey="Zhang T">T. Zhang</name>
</author>
<author><name sortKey="Akiyama, J A" uniqKey="Akiyama J">J.A. Akiyama</name>
</author>
<author><name sortKey="Holt, A" uniqKey="Holt A">A. Holt</name>
</author>
<author><name sortKey="Plajzer Frick, I" uniqKey="Plajzer Frick I">I. Plajzer-Frick</name>
</author>
<author><name sortKey="Shoukry, M" uniqKey="Shoukry M">M. Shoukry</name>
</author>
<author><name sortKey="Wright, C" uniqKey="Wright C">C. Wright</name>
</author>
<author><name sortKey="Chen, F" uniqKey="Chen F">F. Chen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Schmidt, D" uniqKey="Schmidt D">D. Schmidt</name>
</author>
<author><name sortKey="Wilson, M D" uniqKey="Wilson M">M.D. Wilson</name>
</author>
<author><name sortKey="Ballester, B" uniqKey="Ballester B">B. Ballester</name>
</author>
<author><name sortKey="Schwalie, P C" uniqKey="Schwalie P">P.C. Schwalie</name>
</author>
<author><name sortKey="Brown, G D" uniqKey="Brown G">G.D. Brown</name>
</author>
<author><name sortKey="Marshall, A" uniqKey="Marshall A">A. Marshall</name>
</author>
<author><name sortKey="Kutter, C" uniqKey="Kutter C">C. Kutter</name>
</author>
<author><name sortKey="Watt, S" uniqKey="Watt S">S. Watt</name>
</author>
<author><name sortKey="Martinez Jimenez, C P" uniqKey="Martinez Jimenez C">C.P. Martinez-Jimenez</name>
</author>
<author><name sortKey="Mackay, S" uniqKey="Mackay S">S. Mackay</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chattopadhyay, S" uniqKey="Chattopadhyay S">S. Chattopadhyay</name>
</author>
<author><name sortKey="Whitehurst, C E" uniqKey="Whitehurst C">C.E. Whitehurst</name>
</author>
<author><name sortKey="Chen, J" uniqKey="Chen J">J. Chen</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Gordon, C T" uniqKey="Gordon C">C.T. Gordon</name>
</author>
<author><name sortKey="Tan, T Y" uniqKey="Tan T">T.Y. Tan</name>
</author>
<author><name sortKey="Benko, S" uniqKey="Benko S">S. Benko</name>
</author>
<author><name sortKey="Fitzpatrick, D" uniqKey="Fitzpatrick D">D. Fitzpatrick</name>
</author>
<author><name sortKey="Lyonnet, S" uniqKey="Lyonnet S">S. Lyonnet</name>
</author>
<author><name sortKey="Farlie, P G" uniqKey="Farlie P">P.G. Farlie</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chong, S S" uniqKey="Chong S">S.S. Chong</name>
</author>
<author><name sortKey="Pack, S D" uniqKey="Pack S">S.D. Pack</name>
</author>
<author><name sortKey="Roschke, A V" uniqKey="Roschke A">A.V. Roschke</name>
</author>
<author><name sortKey="Tanigami, A" uniqKey="Tanigami A">A. Tanigami</name>
</author>
<author><name sortKey="Carrozzo, R" uniqKey="Carrozzo R">R. Carrozzo</name>
</author>
<author><name sortKey="Smith, A C" uniqKey="Smith A">A.C. Smith</name>
</author>
<author><name sortKey="Dobyns, W B" uniqKey="Dobyns W">W.B. Dobyns</name>
</author>
<author><name sortKey="Ledbetter, D H" uniqKey="Ledbetter D">D.H. Ledbetter</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Chambeyron, S" uniqKey="Chambeyron S">S. Chambeyron</name>
</author>
<author><name sortKey="Da Silva, N R" uniqKey="Da Silva N">N.R. Da Silva</name>
</author>
<author><name sortKey="Lawson, K A" uniqKey="Lawson K">K.A. Lawson</name>
</author>
<author><name sortKey="Bickmore, W A" uniqKey="Bickmore W">W.A. Bickmore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Finlan, L E" uniqKey="Finlan L">L.E. Finlan</name>
</author>
<author><name sortKey="Sproul, D" uniqKey="Sproul D">D. Sproul</name>
</author>
<author><name sortKey="Thomson, I" uniqKey="Thomson I">I. Thomson</name>
</author>
<author><name sortKey="Boyle, S" uniqKey="Boyle S">S. Boyle</name>
</author>
<author><name sortKey="Kerr, E" uniqKey="Kerr E">E. Kerr</name>
</author>
<author><name sortKey="Perry, P" uniqKey="Perry P">P. Perry</name>
</author>
<author><name sortKey="Ylstra, B" uniqKey="Ylstra B">B. Ylstra</name>
</author>
<author><name sortKey="Chubb, J R" uniqKey="Chubb J">J.R. Chubb</name>
</author>
<author><name sortKey="Bickmore, W A" uniqKey="Bickmore W">W.A. Bickmore</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Soutoglou, E" uniqKey="Soutoglou E">E. Soutoglou</name>
</author>
<author><name sortKey="Talianidis, I" uniqKey="Talianidis I">I. Talianidis</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Sheehan Rooney, K" uniqKey="Sheehan Rooney K">K. Sheehan-Rooney</name>
</author>
<author><name sortKey="Palinkasova, B" uniqKey="Palinkasova B">B. Palinkasova</name>
</author>
<author><name sortKey="Eberhart, J K" uniqKey="Eberhart J">J.K. Eberhart</name>
</author>
<author><name sortKey="Dixon, M J" uniqKey="Dixon M">M.J. Dixon</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Thisse, C" uniqKey="Thisse C">C. Thisse</name>
</author>
<author><name sortKey="Thisse, B" uniqKey="Thisse B">B. Thisse</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Ravi, V" uniqKey="Ravi V">V. Ravi</name>
</author>
<author><name sortKey="Bhatia, S" uniqKey="Bhatia S">S. Bhatia</name>
</author>
<author><name sortKey="Gautier, P" uniqKey="Gautier P">P. Gautier</name>
</author>
<author><name sortKey="Loosli, F" uniqKey="Loosli F">F. Loosli</name>
</author>
<author><name sortKey="Tay, B H" uniqKey="Tay B">B.H. Tay</name>
</author>
<author><name sortKey="Tay, A" uniqKey="Tay A">A. Tay</name>
</author>
<author><name sortKey="Murdoch, E" uniqKey="Murdoch E">E. Murdoch</name>
</author>
<author><name sortKey="Coutinho, P" uniqKey="Coutinho P">P. Coutinho</name>
</author>
<author><name sortKey="Van Heyningen, V" uniqKey="Van Heyningen V">V. van Heyningen</name>
</author>
<author><name sortKey="Brenner, S" uniqKey="Brenner S">S. Brenner</name>
</author>
</analytic>
</biblStruct>
</listBibl>
</div1>
</back>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Rainger, Jacqueline K" sort="Rainger, Jacqueline K" uniqKey="Rainger J" first="Jacqueline K." last="Rainger">Jacqueline K. Rainger</name>
</noRegion>
<name sortKey="Ansari, Morad" sort="Ansari, Morad" uniqKey="Ansari M" first="Morad" last="Ansari">Morad Ansari</name>
<name sortKey="Bengani, Hemant" sort="Bengani, Hemant" uniqKey="Bengani H" first="Hemant" last="Bengani">Hemant Bengani</name>
<name sortKey="Bhatia, Shipra" sort="Bhatia, Shipra" uniqKey="Bhatia S" first="Shipra" last="Bhatia">Shipra Bhatia</name>
<name sortKey="Crow, Jayne" sort="Crow, Jayne" uniqKey="Crow J" first="Jayne" last="Crow">Jayne Crow</name>
<name sortKey="Dixon, Michael J" sort="Dixon, Michael J" uniqKey="Dixon M" first="Michael J." last="Dixon">Michael J. Dixon</name>
<name sortKey="Fitzpatrick, David R" sort="Fitzpatrick, David R" uniqKey="Fitzpatrick D" first="David R." last="Fitzpatrick">David R. Fitzpatrick</name>
<name sortKey="Gautier, Philippe" sort="Gautier, Philippe" uniqKey="Gautier P" first="Philippe" last="Gautier">Philippe Gautier</name>
<name sortKey="Kleinjan, Dirk A" sort="Kleinjan, Dirk A" uniqKey="Kleinjan D" first="Dirk A." last="Kleinjan">Dirk A. Kleinjan</name>
<name sortKey="Matarin, Mar" sort="Matarin, Mar" uniqKey="Matarin M" first="Mar" last="Matarin">Mar Matarin</name>
<name sortKey="Mehendale, Felicity" sort="Mehendale, Felicity" uniqKey="Mehendale F" first="Felicity" last="Mehendale">Felicity Mehendale</name>
<name sortKey="Palinkasova, Bozena" sort="Palinkasova, Bozena" uniqKey="Palinkasova B" first="Bozena" last="Palinkasova">Bozena Palinkasova</name>
<name sortKey="Pearson, Matt" sort="Pearson, Matt" uniqKey="Pearson M" first="Matt" last="Pearson">Matt Pearson</name>
<name sortKey="Rainger, Joe" sort="Rainger, Joe" uniqKey="Rainger J" first="Joe" last="Rainger">Joe Rainger</name>
<name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name>
<name sortKey="Sisodiya, Sanjay M" sort="Sisodiya, Sanjay M" uniqKey="Sisodiya S" first="Sanjay M." last="Sisodiya">Sanjay M. Sisodiya</name>
<name sortKey="Thompson, Pamela J" sort="Thompson, Pamela J" uniqKey="Thompson P" first="Pamela J." last="Thompson">Pamela J. Thompson</name>
<name sortKey="Thompson, Pamela J" sort="Thompson, Pamela J" uniqKey="Thompson P" first="Pamela J." last="Thompson">Pamela J. Thompson</name>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002545 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002545 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= EdenteV2 |flux= Main |étape= Exploration |type= RBID |clé= PMC:3990159 |texte= Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:24363063" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a EdenteV2
![]() | This area was generated with Dilib version V0.6.32. | ![]() |