Hanna T Gazda

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc 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. pmc 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. pmc 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. pmc 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. pmc 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. pmc Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia
    Michael Landowski
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, MA, USA
    Hum Genet 132:1265-74. 2013
  7. ncbi request reprint 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
  8. pmc 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
  9. ncbi request reprint 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
  10. pmc 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

Collaborators

Detail Information

Publications12

  1. pmc 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. pmc 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. pmc 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. pmc 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. pmc 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. pmc Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia
    Michael Landowski
    Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children s Hospital, Boston, MA, USA
    Hum Genet 132:1265-74. 2013
    ..These data identify RPL15 as a new gene involved in DBA and further support the presence of large deletions in RP genes in DBA patients...
  7. ncbi request reprint 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...
  8. pmc 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...
  9. ncbi request reprint 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
    ....
  10. pmc 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
    ....
  11. doi request reprint 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
    ....
  12. pmc 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...