Alison A Bertuch

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. pmc Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 15:64. 2014
  2. pmc Ku must load directly onto the chromosome end in order to mediate its telomeric functions
    Christopher R Lopez
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 7:e1002233. 2011
  3. ncbi Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions
    Albert Ribes-Zamora
    Department of Pediatrics, Hematology Oncology Section, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, Texas 77030 3411, USA
    Nat Struct Mol Biol 14:301-7. 2007
  4. pmc The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini
    Alison A Bertuch
    Department of Pediatrics, Hematology Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Mol Cell Biol 23:8202-15. 2003
  5. pmc EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae
    Alison A Bertuch
    Department of Molecular and Human Genetics, Hematology Oncology Section, Baylor College of Medicine, Houston, Texas 77030, USA
    Genetics 166:1651-9. 2004
  6. pmc TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres
    Albert Ribes-Zamora
    Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Cell Rep 5:194-206. 2013
  7. pmc The principal role of ku in telomere length maintenance is promotion of est1 association with telomeres
    Jaime M Williams
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030
    Genetics 197:1123-36. 2014
  8. pmc Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy
    Maria M Gramatges
    Section of Hematology Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex
    Transl Res 162:353-63. 2013
  9. pmc An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control
    Hannah C Cheung
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    BMC Genomics 13:664. 2012
  10. doi Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3)
    Jason T Yustein
    Department of Pediatrics, Texas Children s Cancer Center, Baylor College of Medicine, Houston, Texas, USA
    Pediatr Blood Cancer 54:1041-4. 2010

Collaborators

Detail Information

Publications19

  1. pmc Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome
    Claudia M B Carvalho
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    BMC Med Genet 15:64. 2014
    ..Structural variation (SV) involving the SBDS locus has been rarely reported in association with the disease. We aimed to determine whether an SV contributed to the pathogenesis of a case lacking biallelic SBDS point mutations...
  2. pmc Ku must load directly onto the chromosome end in order to mediate its telomeric functions
    Christopher R Lopez
    Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 7:e1002233. 2011
    ..The extensive telomere defects observed in these mutants lead us to propose that Ku is an integral component of the terminal telomeric cap, where it promotes a specific architecture that is central to telomere function and maintenance...
  3. ncbi Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions
    Albert Ribes-Zamora
    Department of Pediatrics, Hematology Oncology Section, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, Texas 77030 3411, USA
    Nat Struct Mol Biol 14:301-7. 2007
    ..We propose a 'two-face' model for Ku and that divergent evolution of these faces allowed Ku's dual role in NHEJ and telomere maintenance...
  4. pmc The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini
    Alison A Bertuch
    Department of Pediatrics, Hematology Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Mol Cell Biol 23:8202-15. 2003
    ....
  5. pmc EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae
    Alison A Bertuch
    Department of Molecular and Human Genetics, Hematology Oncology Section, Baylor College of Medicine, Houston, Texas 77030, USA
    Genetics 166:1651-9. 2004
    ..These data demonstrate that Exo1 can make either positive or negative contributions to telomere function and cell viability, depending on whether telomerase or recombination is utilized to maintain telomere function...
  6. pmc TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres
    Albert Ribes-Zamora
    Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Cell Rep 5:194-206. 2013
    ..Together, these findings lead us to propose a model in which telomeres are directly protected from c-NHEJ via TRF2 impeding Ku's ability to synapse telomere ends. ..
  7. pmc The principal role of ku in telomere length maintenance is promotion of est1 association with telomeres
    Jaime M Williams
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030
    Genetics 197:1123-36. 2014
    ....
  8. pmc Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy
    Maria M Gramatges
    Section of Hematology Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex
    Transl Res 162:353-63. 2013
    ..Last, we review the evidence of how telomere biology may impact sporadic aplastic anemia and the risk for various cancers. ..
  9. pmc An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control
    Hannah C Cheung
    Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
    BMC Genomics 13:664. 2012
    ..However, the full repertoire of proteins and pathways controlled by Tel1 and Mec1 is unknown...
  10. doi Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3)
    Jason T Yustein
    Department of Pediatrics, Texas Children s Cancer Center, Baylor College of Medicine, Houston, Texas, USA
    Pediatr Blood Cancer 54:1041-4. 2010
    ..3), which has not been reported in small round cell tumors of childhood or adults. The final diagnosis rendered was an undifferentiated small round cell tumor of uncertain cell of origin...
  11. pmc A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome
    Maria M Gramatges
    Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA
    Blood 121:3586-93. 2013
    ....
  12. doi Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
    Asbjorg Stray-Pedersen
    Allergy and Immunology, Section of Immunology, Allergy and Rheumatology, Texas Children s Hospital, Houston, TX, USA
    J Clin Immunol 34:871-90. 2014
    ..Only two other CORO1A-kindred are known to date, thus the defining characteristics are not well delineated. We identified a unique CORO1A-kindred...
  13. pmc Dyskeratosis congenita as a disorder of telomere maintenance
    Nya D Nelson
    Department of Molecular and Human Genetics, Texas Children s Hospital, Houston, TX 77030, USA
    Mutat Res 730:43-51. 2012
    ..This review will highlight our current knowledge of the telomere length defects in DC and the factors involved in its development...
  14. ncbi The maintenance and masking of chromosome termini
    Alison A Bertuch
    Department of Pediatrics, Hematology Oncology Section, Baylor College of Medicine, Houston, TX 77030, USA
    Curr Opin Cell Biol 18:247-53. 2006
    ....
  15. ncbi Which end: dissecting Ku's function at telomeres and double-strand breaks
    Alison A Bertuch
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genes Dev 17:2347-50. 2003
  16. pmc Germline mutations in shelterin complex genes are associated with familial glioma
    Matthew N Bainbridge
    Affiliations of authors Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX MNB, SNJ, hd, LL, JT, dmm, RAG Codified Genomics, LLC, Houston, TX MNB Department of Pediatrics, Division of Hematology Oncology, Dan L Duncan Cancer Center GNA, MMG, AAB, St, yl, SEP, CCL, dwp, MLB and Department of Neurosurgery AJ, Baylor College of Medicine, Houston, TX Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT EBC Department of Neurosurgery, Brigham and Women s Hospital, Boston, MA EBC Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH JBS Department of Epidemiology and Biostatistics, Georgia State University School of Public Health, Atlanta, GA DI Cancer Control and Prevention Program, Department of Community and Family Medicine, Australia
    J Natl Cancer Inst 107:384. 2015
    ..These findings are important for understanding the origin of glioma and could have importance for the future diagnostics and treatment of glioma. ..
  17. doi Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults
    Melissa R Delario
    Pediatrics, Section of Hematology and Oncology, Baylor College of Medicine, 6701 Fannin Street, Houston, TX 77030 2399, USA
    Am J Hematol 87:461-4. 2012
    ..In conclusion, analysis of this large series of pediatric patients with primary myelofibrosis demonstrates distinct clinical, hematologic, bone marrow, and molecular features from adult patients...
  18. pmc Poly(ADP-ribose) polymerase inhibitor ABT-888 potentiates the cytotoxic activity of temozolomide in leukemia cells: influence of mismatch repair status and O6-methylguanine-DNA methyltransferase activity
    Terzah M Horton
    Texas Children s Cancer Center Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Cancer Ther 8:2232-42. 2009
    ..In conclusion, although ABT-888 potentiation of TMZ was most pronounced in MMR-deficient cells with low MGMT activity, neither MMR proficiency nor MGMT overexpression completely abrogated ABT-888 potentiation of TMZ...
  19. ncbi The way to the end matters--the role of telomerase in tumor progression
    Alison A Bertuch
    Department of Molecular and Human Genetics, Hematology Oncology Section, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Cell Cycle 2:36-8. 2003