H Vega

Summary

Affiliation: Universidad Nacional de Colombia
Country: Colombia

Publications

  1. ncbi request reprint Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
    Hugo Vega
    Instituto de Genetica, Universidad Nacional de Colombia, Ciudad Universitaria, Bogota, Colombia
    Nat Genet 37:468-70. 2005
  2. doi request reprint Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
    H Vega
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of City University of New York, New York, NY 10029, USA
    J Med Genet 47:30-7. 2010
  3. doi request reprint The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
    Miriam Gordillo
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA
    Hum Mol Genet 17:2172-80. 2008

Collaborators

  • Hulya Kayserili
  • R C M Hennekam
  • S Manouvrier
  • R E Schnur
  • Miriam Gordillo
  • Edward Blair
  • Koji Inui
  • Francesca Forzano
  • Hui Zou
  • Roger A Schultz
  • Ethylin Wang Jabs
  • Moritz Meins
  • Fajian Hou
  • Lisa D McDaniel
  • Keiichi Ozono
  • Kalle O J Simola
  • Jane A Hurst
  • Alison H Trainer
  • Norio Sakai
  • Annick Raas-Rothschild
  • Flemming Skovby
  • Ricardo Luque
  • Maria L Giovannucci Uzielli
  • Susan Chang
  • Seher Basaran

Detail Information

Publications3

  1. ncbi request reprint Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
    Hugo Vega
    Instituto de Genetica, Universidad Nacional de Colombia, Ciudad Universitaria, Bogota, Colombia
    Nat Genet 37:468-70. 2005
    ..The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity...
  2. doi request reprint Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
    H Vega
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of City University of New York, New York, NY 10029, USA
    J Med Genet 47:30-7. 2010
    ..Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available...
  3. doi request reprint The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity
    Miriam Gordillo
    McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, USA
    Hum Mol Genet 17:2172-80. 2008
    ..In summary, we provide the first evidence that loss of acetyltransferase activity contributes to the pathogenesis of RBS, underscoring the essential role of the enzymatic activity of the Eco1p family of proteins...