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@ARTICLE{Dykes:137432,
      author       = {Dykes, Iain M and van Bueren, Kelly Lammerts and Ashmore,
                      Rebekah J and Floss, Thomas and Wurst, Wolfgang and Szumska,
                      Dorota and Bhattacharya, Shoumo and Scambler, Peter J},
      title        = {{HIC}2 is a novel dosage-dependent regulator of cardiac
                      development located within the distal 22q11 deletion
                      syndrome region.},
      journal      = {Circulation research},
      volume       = {115},
      number       = {1},
      issn         = {0009-7330},
      address      = {New York, NY},
      publisher    = {Assoc.},
      reportid     = {DZNE-2020-03754},
      pages        = {23-31},
      year         = {2014},
      abstract     = {22q11 deletion syndrome arises from recombination between
                      low-copy repeats on chromosome 22. Typical deletions result
                      in hemizygosity for TBX1 associated with congenital
                      cardiovascular disease. Deletions distal to the typically
                      deleted region result in a similar cardiac phenotype but
                      lack in extracardiac features of the syndrome, suggesting
                      that a second haploinsufficient gene maps to this
                      interval.The transcription factor HIC2 is lost in most
                      distal deletions, as well as in a minority of typical
                      deletions. We used mouse models to test the hypothesis that
                      HIC2 hemizygosity causes congenital heart disease.We created
                      a genetrap mouse allele of Hic2. The genetrap reporter was
                      expressed in the heart throughout the key stages of cardiac
                      morphogenesis. Homozygosity for the genetrap allele was
                      embryonic lethal before embryonic day E10.5, whereas the
                      heterozygous condition exhibited a partially penetrant late
                      lethality. One third of heterozygous embryos had a cardiac
                      phenotype. MRI demonstrated a ventricular septal defect with
                      over-riding aorta. Conditional targeting indicated a
                      requirement for Hic2 within the Nkx2.5+ and Mesp1+
                      cardiovascular progenitor lineages. Microarray analysis
                      revealed increased expression of Bmp10.Our results
                      demonstrate a novel role for Hic2 in cardiac development.
                      Hic2 is the first gene within the distal 22q11 interval to
                      have a demonstrated haploinsufficient cardiac phenotype in
                      mice. Together our data suggest that HIC2 haploinsufficiency
                      likely contributes to the cardiac defects seen in distal
                      22q11 deletion syndrome.},
      keywords     = {22q11 Deletion Syndrome: etiology / 22q11 Deletion
                      Syndrome: genetics / Adaptor Proteins, Signal Transducing:
                      genetics / Adaptor Proteins, Signal Transducing: physiology
                      / Animals / Bone Morphogenetic Proteins: physiology /
                      Disease Models, Animal / Gene Expression Regulation / Heart:
                      embryology / Heart Defects, Congenital: etiology / Humans /
                      Kruppel-Like Transcription Factors: genetics / Kruppel-Like
                      Transcription Factors: physiology / Mice / Mitogen-Activated
                      Protein Kinase 1: genetics / Mitogen-Activated Protein
                      Kinase 1: physiology / Morphogenesis / Mutagenesis / Nuclear
                      Proteins: genetics / Nuclear Proteins: physiology / T-Box
                      Domain Proteins: genetics / T-Box Domain Proteins:
                      physiology / Tumor Suppressor Proteins: genetics / Tumor
                      Suppressor Proteins: physiology / Adaptor Proteins, Signal
                      Transducing (NLM Chemicals) / Bmp10 protein, mouse (NLM
                      Chemicals) / Bone Morphogenetic Proteins (NLM Chemicals) /
                      CRKL protein (NLM Chemicals) / HIC2 protein, human (NLM
                      Chemicals) / HIC2 protein, mouse (NLM Chemicals) / Hic1
                      protein, mouse (NLM Chemicals) / Kruppel-Like Transcription
                      Factors (NLM Chemicals) / Nuclear Proteins (NLM Chemicals) /
                      T-Box Domain Proteins (NLM Chemicals) / Tbx1 protein, mouse
                      (NLM Chemicals) / Tumor Suppressor Proteins (NLM Chemicals)
                      / Mapk1 protein, mouse (NLM Chemicals) / Mitogen-Activated
                      Protein Kinase 1 (NLM Chemicals)},
      cin          = {AG Wurst},
      ddc          = {610},
      cid          = {I:(DE-2719)1140001},
      pnm          = {342 - Disease Mechanisms and Model Systems (POF3-342)},
      pid          = {G:(DE-HGF)POF3-342},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:24748541},
      doi          = {10.1161/CIRCRESAHA.115.303300},
      url          = {https://pub.dzne.de/record/137432},
}