22q11.2 Deletion Syndrome (Homo sapiens)

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(fixed interactions)
Current revision (06:22, 10 July 2019) (view source)
(fixed unconnected lines and SHH part of pathway)
 
Line 396: Line 396:
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Line 436: Line 436:
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Line 492: Line 492:
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Schwartz RJ</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Bruneau BG</bp:AUTHORS>
 
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      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hum Mol Genet</bp:SOURCE>
 
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">1998</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Oakey RJ</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Budarf ML</bp:AUTHORS>
 
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    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="aff">
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.</bp:TITLE>
 
-
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Genes Dev</bp:SOURCE>
 
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2003</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Maeda J</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hu T</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">McAnally J</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Conway SJ</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Kume T</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Meyers EN</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Yamagishi C</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Srivastava D</bp:AUTHORS>
 
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      <bp:TERM xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:datatype="http://www.w3.org/2001/XMLSchema#string">disease pathway</bp:TERM>
 
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      <bp:ID xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PW:0000013</bp:ID>
 
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      <bp:Ontology xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Pathway Ontology</bp:Ontology>
 
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    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="fdf">
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Dev Dyn</bp:SOURCE>
 
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2005</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Roberts C</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Scambler PJ</bp:AUTHORS>
 
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    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="eec">
 
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      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">16251970</bp:ID>
 
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      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 
-
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">The histone H3.3 chaperone HIRA is essential for chromatin assembly in the male pronucleus.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Nature</bp:SOURCE>
 
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2005</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Loppin B</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Bonnefoy E</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Anselme C</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Laurençon A</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Karr TL</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Couble P</bp:AUTHORS>
 
-
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    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="d4b">
 
-
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">9710638</bp:ID>
 
-
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mol Cell Biol</bp:SOURCE>
 
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">1998</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lorain S</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Quivy JP</bp:AUTHORS>
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MicroRNA-9 and microRNA-326 regulate human dopamine D2 receptor expression, and the microRNA-mediated expression regulation is altered by a genetic variant.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">J Biol Chem</bp:SOURCE>
 
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2014</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Schwartz D</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Moy W</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Shi J</bp:AUTHORS>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Duan J</bp:AUTHORS>
 
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    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="ac2">
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mol Cell Biol</bp:SOURCE>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Chen CY</bp:AUTHORS>
 
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      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">15996652</bp:ID>
 
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      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo.</bp:TITLE>
 
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Dev Biol</bp:SOURCE>
 
-
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2005</bp:YEAR>
 
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Byrd NA</bp:AUTHORS>
 
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       <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">24449907</bp:ID>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Guo F</bp:AUTHORS>
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Guo F</bp:AUTHORS>
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     <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="db1">
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     <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="e8e">
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       <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">23284264</bp:ID>
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       <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">9063746</bp:ID>
       <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
       <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hematological abnormalities and 22q11.2 deletion syndrome.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.</bp:TITLE>
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       <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Rev Bras Hematol Hemoter</bp:SOURCE>
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       <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hum Mol Genet</bp:SOURCE>
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       <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2011</bp:YEAR>
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       <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">1997</bp:YEAR>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Rosa RF</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Pizzuti A</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Rosa RC</bp:AUTHORS>
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Novelli G</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Dos Santos PP</bp:AUTHORS>
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Ratti A</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Zen PR</bp:AUTHORS>
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Amati F</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Paskulin GA</bp:AUTHORS>
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mari A</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Calabrese G</bp:AUTHORS>
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Nicolis S</bp:AUTHORS>
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      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Silani V</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Ottolenghi S</bp:AUTHORS>
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      <bp:TERM xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:datatype="http://www.w3.org/2001/XMLSchema#string">velocardiofacial syndrome</bp:TERM>
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      <bp:ID xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:datatype="http://www.w3.org/2001/XMLSchema#string">DOID:12583</bp:ID>
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      <bp:Ontology xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Disease</bp:Ontology>
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    </bp:openControlledVocabulary>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Brodsky FM</bp:AUTHORS>
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Brodsky FM</bp:AUTHORS>
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     <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="e8e">
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     <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="eec">
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       <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">9063746</bp:ID>
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       <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">16251970</bp:ID>
       <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
       <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">The histone H3.3 chaperone HIRA is essential for chromatin assembly in the male pronucleus.</bp:TITLE>
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       <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hum Mol Genet</bp:SOURCE>
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       <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Nature</bp:SOURCE>
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       <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">1997</bp:YEAR>
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       <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2005</bp:YEAR>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Pizzuti A</bp:AUTHORS>
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       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Loppin B</bp:AUTHORS>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">MicroRNA-9 and microRNA-326 regulate human dopamine D2 receptor expression, and the microRNA-mediated expression regulation is altered by a genetic variant.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.</bp:TITLE>
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.</bp:TITLE>
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.</bp:TITLE>
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Expression analysis of the human testis-specific serine/threonine kinase (TSSK) homologues. A TSSK member is present in the equatorial segment of human sperm.</bp:TITLE>
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.</bp:TITLE>
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       <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription.</bp:TITLE>
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      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Coactivator control of cardiovascular growth and remodeling.</bp:TITLE>
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      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Curr Opin Cell Biol</bp:SOURCE>
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2006</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Liu N</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Olson EN</bp:AUTHORS>
 +
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="b94">
 +
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      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.</bp:TITLE>
 +
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 +
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2008</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Stark KL</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Xu B</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Bagchi A</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lai WS</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Liu H</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hsu R</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Wan X</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Pavlidis P</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mills AA</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Karayiorgou M</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Gogos JA</bp:AUTHORS>
 +
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="cd0">
 +
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">24904170</bp:ID>
 +
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Science</bp:SOURCE>
       <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2014</bp:YEAR>
       <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2014</bp:YEAR>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Sellier C</bp:AUTHORS>
+
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Chun S</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hwang VJ</bp:AUTHORS>
+
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Westmoreland JJ</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Dandekar R</bp:AUTHORS>
+
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Bayazitov IT</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Durbin-Johnson B</bp:AUTHORS>
+
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Eddins D</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Charlet-Berguerand N</bp:AUTHORS>
+
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Pani AK</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Ander BP</bp:AUTHORS>
+
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Smeyne RJ</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Sharp FR</bp:AUTHORS>
+
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Yu J</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Angkustsiri K</bp:AUTHORS>
+
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Blundon JA</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Simon TJ</bp:AUTHORS>
+
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Zakharenko SS</bp:AUTHORS>
-
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tassone F</bp:AUTHORS>
+
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="c36">
 +
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">9790763</bp:ID>
 +
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Genomics</bp:SOURCE>
 +
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">1998</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Funke B</bp:AUTHORS>
 +
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Puech A</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Saint-Jore B</bp:AUTHORS>
 +
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Pandita R</bp:AUTHORS>
 +
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Skoultchi A</bp:AUTHORS>
 +
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Morrow B</bp:AUTHORS>
 +
    </bp:PublicationXref>
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    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="fdf">
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      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">15736167</bp:ID>
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      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Retinoic acid down-regulates Tbx1 expression in vivo and in vitro.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Dev Dyn</bp:SOURCE>
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      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2005</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Roberts C</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Ivins SM</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">James CT</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Scambler PJ</bp:AUTHORS>
 +
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="b49">
 +
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">15996652</bp:ID>
 +
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Loss of Gbx2 results in neural crest cell patterning and pharyngeal arch artery defects in the mouse embryo.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Dev Biol</bp:SOURCE>
 +
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2005</bp:YEAR>
 +
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Byrd NA</bp:AUTHORS>
 +
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Meyers EN</bp:AUTHORS>
     </bp:PublicationXref>
     </bp:PublicationXref>
     <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="aed">
     <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="aed">
Line 2,392: Line 2,410:
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tang S</bp:AUTHORS>
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tang S</bp:AUTHORS>
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Baldini A</bp:AUTHORS>
       <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Baldini A</bp:AUTHORS>
 +
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="fcf">
 +
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">19247433</bp:ID>
 +
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PLoS Genet</bp:SOURCE>
 +
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2009</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Choi M</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Klingensmith J</bp:AUTHORS>
 +
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="d4b">
 +
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">9710638</bp:ID>
 +
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Core histones and HIRIP3, a novel histone-binding protein, directly interact with WD repeat protein HIRA.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Mol Cell Biol</bp:SOURCE>
 +
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">1998</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lorain S</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Quivy JP</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Monier-Gavelle F</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Scamps C</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lécluse Y</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Almouzni G</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Lipinski M</bp:AUTHORS>
 +
    </bp:PublicationXref>
 +
    <bp:PublicationXref xmlns:bp="http://www.biopax.org/release/biopax-level3.owl#" xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" rdf:id="aff">
 +
      <bp:ID rdf:datatype="http://www.w3.org/2001/XMLSchema#string">12533514</bp:ID>
 +
      <bp:DB rdf:datatype="http://www.w3.org/2001/XMLSchema#string">PubMed</bp:DB>
 +
      <bp:TITLE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.</bp:TITLE>
 +
      <bp:SOURCE rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Genes Dev</bp:SOURCE>
 +
      <bp:YEAR rdf:datatype="http://www.w3.org/2001/XMLSchema#string">2003</bp:YEAR>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Yamagishi H</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Maeda J</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Hu T</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">McAnally J</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Conway SJ</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Kume T</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Meyers EN</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Yamagishi C</bp:AUTHORS>
 +
      <bp:AUTHORS rdf:datatype="http://www.w3.org/2001/XMLSchema#string">Srivastava D</bp:AUTHORS>
     </bp:PublicationXref>
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   </Biopax>
   </Biopax>
</Pathway>
</Pathway>

Current revision

Error rendering pathway page

This revision of the pathway probably contains invalid GPML code. If this happens to the most recent revision, try reverting the pathway using the pathway history displayed below or contact the site administrators (see WikiPathways:About) to resolve this problem.

Pathway history

View all...
CompareRevisionActionTimeUserComment
105133view06:22, 10 July 2019Fehrhartfixed unconnected lines and SHH part of pathway
105073view17:20, 4 July 2019Victoravrfixed interactions
105072view12:57, 4 July 2019VictoravrAdded CLTC1 pathways
105049view21:44, 2 July 2019Victoravr2 added pathways for COMT
105048view20:54, 2 July 2019VictoravrAdded legend and fixed interactions
105027view16:42, 30 June 2019VictoravrDGCR8 mediated DRD2 upregulation added
105025view10:40, 29 June 2019EgonwReplaced secondary ChEBI identifiers with a primary identifiers.
104987view21:55, 27 June 2019Victoravradded pathway
104984view19:56, 27 June 2019VictoravrAdded downstream genes
104957view12:03, 27 June 2019VictoravrGP1BB downstream added
104955view10:21, 27 June 2019VictoravrAdding of gene functional descriptions
104952view07:25, 27 June 2019Fehrhartwork in progress
104941view11:53, 26 June 2019VictoravrOntology Term : 'neurological disorder pathway' added !
104940view11:50, 26 June 2019VictoravrOntology Term : 'disease pathway' added !
104939view11:50, 26 June 2019VictoravrOntology Term : 'velocardiofacial syndrome' added !
104938view11:35, 26 June 2019FehrhartNew pathway

Error details

exception 'Exception' with message 'Unable to convert to /var/www/wikipathways/images/c/c0/WP4657_prev.svg:
<BR>Status:1
<BR>Message:Exception in thread "main" java.lang.NullPointerException
	at org.pathvisio.core.Engine.getPathwayImporters(Unknown Source)
	at org.pathvisio.core.Engine.importPathway(Unknown Source)
	at org.pathvisio.core.util.Converter.main(Unknown Source)

<BR>Command:java -Xmx1024M -jar /var/www/wikipathways/wpi/bin/pathvisio_core.jar "/var/www/wikipathways" "/var/www/wikipathways/images/c/c0/WP4657_prev.svg" 2>&1<BR>' in /var/www/wikipathways/wpi/extensions/Pathways/Pathway.php:1255
Stack trace:
#0 /var/www/wikipathways/wpi/extensions/Pathways/Pathway.php(1227): Pathway::convertWithPathVisio(false, '/var/www/wikipa...')
#1 /var/www/wikipathways/wpi/extensions/Pathways/Pathway.php(1137): Pathway->saveConvertedByPathVisioCache('svg')
#2 /var/www/wikipathways/wpi/extensions/Pathways/PathwayPage.php(21): Pathway->updateCache('svg')
#3 [internal function]: renderPathwayPage(Object(Parser), '<?xml version="...', Object(StripState))
#4 /var/www/wikipathways/includes/Hooks.php(125): call_user_func_array('renderPathwayPa...', Array)
#5 /var/www/wikipathways/includes/parser/Parser.php(318): wfRunHooks('ParserBeforeStr...', Array)
#6 /var/www/wikipathways/includes/OutputPage.php(405): Parser->parse('<?xml version="...', Object(Title), Object(ParserOptions), true, true, 105133)
#7 /var/www/wikipathways/includes/OutputPage.php(391): OutputPage->addWikiTextTitle('<?xml version="...', Object(Title), true, true)
#8 /var/www/wikipathways/includes/OutputPage.php(500): OutputPage->addWikiTextTitleTidy('<?xml version="...', Object(Title), true)
#9 /var/www/wikipathways/includes/DifferenceEngine.php(313): OutputPage->addWikiTextTidy('<?xml version="...')
#10 /var/www/wikipathways/includes/DifferenceEngine.php(271): DifferenceEngine->renderNewRevision()
#11 /var/www/wikipathways/includes/Article.php(729): DifferenceEngine->showDiffPage(false)
#12 /var/www/wikipathways/includes/Wiki.php(437): Article->view()
#13 /var/www/wikipathways/includes/Wiki.php(59): MediaWiki->performAction(Object(OutputPage), Object(Article), Object(Title), Object(User), Object(WebRequest))
#14 /var/www/wikipathways/index.php(93): MediaWiki->initialize(Object(Title), Object(Article), Object(OutputPage), Object(User), Object(WebRequest))
#15 {main}
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