D W Benson

Summary

Affiliation: Medical University of South Carolina
Country: USA

Publications

  1. pmc Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9
    G Andelfinger
    Cardiovascular Genetics, Division of Cardiology, Cincinnati Children s Hospital, Cincinnati, OH 45229, USA
    J Med Genet 40:320-4. 2003
  2. pmc Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    D W Benson
    Division of Pediatric Cardiology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    J Clin Invest 104:1567-73. 1999
  3. ncbi Advances in cardiovascular genetics and embryology: role of transcription factors in congenital heart disease
    D W Benson
    Pediatric Cardiology, Medical University of South Carolina, Charleston, USA
    Curr Opin Pediatr 12:497-500. 2000
  4. ncbi Congenital heart disease caused by mutations in the transcription factor NKX2-5
    J J Schott
    Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
    Science 281:108-11. 1998
  5. pmc Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
    Y Watanabe
    J Med Genet 39:807-11. 2002
  6. ncbi NKX2.5 mutations in patients with tetralogy of fallot
    E Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA
    Circulation 104:2565-8. 2001
  7. pmc Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
    H Kasahara
    Cardiovascular Division, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 106:299-308. 2000
  8. ncbi Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation
    K Konig
    Clin Res Cardiol 95:499-503. 2006
  9. ncbi Familial dilated cardiomyopathy locus maps to chromosome 2q31
    B L Siu
    Department of Pediatric Cardiology, Boston Children s Hospital, Boston, MA, USA
    Circulation 99:1022-6. 1999
  10. ncbi Radiation hybrid mapping and genomic organization of canine TBX2 and TBX4
    G Andelfinger
    Cardiovascular Genetics, Division of Cardiology, Cincinnati Children s Hospital, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Anim Genet 34:307-9. 2003

Collaborators

Detail Information

Publications10

  1. pmc Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9
    G Andelfinger
    Cardiovascular Genetics, Division of Cardiology, Cincinnati Children s Hospital, Cincinnati, OH 45229, USA
    J Med Genet 40:320-4. 2003
    ..Canine tricuspid valve malformation (CTVM) is morphologically similar to Ebstein anomaly; familial occurrence of CTVM has been described. Several observations suggest a genetic cause but most cases appear to be sporadic...
  2. pmc Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
    D W Benson
    Division of Pediatric Cardiology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    J Clin Invest 104:1567-73. 1999
    ..The coinheritance of NKX2.5 mutations with various congenital heart defects suggests that this transcription factor contributes to diverse cardiac developmental pathways...
  3. ncbi Advances in cardiovascular genetics and embryology: role of transcription factors in congenital heart disease
    D W Benson
    Pediatric Cardiology, Medical University of South Carolina, Charleston, USA
    Curr Opin Pediatr 12:497-500. 2000
    ....
  4. ncbi Congenital heart disease caused by mutations in the transcription factor NKX2-5
    J J Schott
    Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
    Science 281:108-11. 1998
    ..These data indicate that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life...
  5. pmc Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD
    Y Watanabe
    J Med Genet 39:807-11. 2002
  6. ncbi NKX2.5 mutations in patients with tetralogy of fallot
    E Goldmuntz
    Division of Cardiology, The Children s Hospital of Philadelphia, Philadelphia, PA
    Circulation 104:2565-8. 2001
    ..5 as a cause of tetralogy of Fallot (TOF). To estimate the frequency of NKX2.5 mutations in TOF patients and to further investigate the genotype-phenotype correlation of NKX2.5 mutations, we genotyped 114 TOF patients...
  7. pmc Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease
    H Kasahara
    Cardiovascular Division, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 106:299-308. 2000
    ..5. Although our studies do not characterize the genotype-phenotype relationship of the ten human mutations, they identify specific abnormalities of CSX/NKX2.5 function essential for transactivation of target genes...
  8. ncbi Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation
    K Konig
    Clin Res Cardiol 95:499-503. 2006
  9. ncbi Familial dilated cardiomyopathy locus maps to chromosome 2q31
    B L Siu
    Department of Pediatric Cardiology, Boston Children s Hospital, Boston, MA, USA
    Circulation 99:1022-6. 1999
    ..Although the chromosome locations of some defects and 1 disease gene (actin) have been identified, the genetic etiologies of most cases of familial dilated cardiomyopathy remain unknown...
  10. ncbi Radiation hybrid mapping and genomic organization of canine TBX2 and TBX4
    G Andelfinger
    Cardiovascular Genetics, Division of Cardiology, Cincinnati Children s Hospital, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
    Anim Genet 34:307-9. 2003