Hanna T Gazda

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, 3 BlackfanCircle, Boston, MA 02115, USA
    Hum Mutat 33:1037-44. 2012
  2. ncbi Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Stem Cells 24:2034-44. 2006
  3. ncbi Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
    Hanna T Gazda
    Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 79:1110-8. 2006
  4. ncbi Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 83:769-80. 2008
  5. ncbi Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
    Leana Doherty
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 86:222-8. 2010
  6. ncbi RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
    Br J Haematol 127:105-13. 2004
  7. ncbi Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle
    Despina Sanoudou
    Division of Genetics, Children's Hospital, and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 100:4666-71. 2003
  8. ncbi Recent insights into the pathogenesis of Diamond-Blackfan anaemia
    Hanna T Gazda
    Children's Hospital Boston, Division of Genetics and Program in Genomics, Boston, MA 02115, USA
    Br J Haematol 135:149-57. 2006
  9. ncbi Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML
    Elspeth M Payne
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
    Blood 118:903-15. 2011
  10. ncbi Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
    Jason E Farrar
    Division of Pediatric Oncology, Department of Oncology, Kimmel Comprehensive Cancer Center
    Blood 112:1582-92. 2008

Collaborators

Detail Information

Publications11

  1. ncbi Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, 3 BlackfanCircle, Boston, MA 02115, USA
    Hum Mutat 33:1037-44. 2012
    ..We also found a deletion in RPL19 and missense mutations in RPL3 and RPL23A, which may be variants of unknown significance. Together with RPL5, RPL11, and RPS7, RPL26 is the fourth RP regulating p53 activity that is linked to DBA...
  2. ncbi Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, Massachusetts, USA
    Stem Cells 24:2034-44. 2006
    ..Downregulation of c-myb expression, which causes complete failure of fetal liver erythropoiesis in knockout mice, suggests a link between RPS19 mutations and reduced erythropoiesis in DBA...
  3. ncbi Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia
    Hanna T Gazda
    Division of Genetics, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 79:1110-8. 2006
    ..This finding strongly suggests that DBA is a disorder of ribosome synthesis and that mutations in other RP or associated genes that lead to disrupted ribosomal biogenesis and/or function may also cause DBA...
  4. ncbi Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients
    Hanna T Gazda
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 83:769-80. 2008
    ....
  5. ncbi Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
    Leana Doherty
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children s Hospital Boston, Boston, MA 02115, USA
    Am J Hum Genet 86:222-8. 2010
    ....
  6. ncbi RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations
    Hanna T Gazda
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA
    Br J Haematol 127:105-13. 2004
    ..Our data support the notion that, in addition to rare DBA patients with the deletion of one allele, the disease in certain other RPS19 mutant patients is because of RPS19 protein haplo-insufficiency...
  7. ncbi Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle
    Despina Sanoudou
    Division of Genetics, Children's Hospital, and Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 100:4666-71. 2003
    ..This comprehensive study of downstream molecular consequences of NM gene mutations provides insights in the cellular events leading to the NM phenotype...
  8. ncbi Recent insights into the pathogenesis of Diamond-Blackfan anaemia
    Hanna T Gazda
    Children's Hospital Boston, Division of Genetics and Program in Genomics, Boston, MA 02115, USA
    Br J Haematol 135:149-57. 2006
    ....
  9. ncbi Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML
    Elspeth M Payne
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Harvard Medical School, Boston, MA, USA
    Blood 118:903-15. 2011
    ....
  10. ncbi Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
    Jason E Farrar
    Division of Pediatric Oncology, Department of Oncology, Kimmel Comprehensive Cancer Center
    Blood 112:1582-92. 2008
    ..The results also establish that haploinsufficiency of large ribosomal subunit proteins contributes to bone marrow failure and potentially cancer predisposition...
  11. ncbi Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
    Valerie Choesmel
    Laboratoire de Biologie Molé culaire Eucaryote, Universite de Toulouse, 31062 Toulouse, France
    Hum Mol Genet 17:1253-63. 2008
    ....