Keywords
Last Name
Institution

ALISON ANN BERTUCH

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
DivisionPediatrics-Oncology
AddressOne Baylor Plaza
Houston TX 77030
Email
vCardDownload vCard
    Other Positions
    TitleAssociate Professor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics


    Collapse Additional Tools and Researcher Information 
    Collapse Verify Publications

    Collapse Overview 
    Collapse keywords
    telomere
    telomerase
    dyskeratosis congenita
    DNA repair
    Ku heterodimer
    nonhomologous end joining
    Saccharomyces cerevisiae
    bone marrow failure


    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Donohue RE, Marcogliese AN, Sasa GS, Elghetany MT, Redkar AA, Bertuch AA, Curry CV. Standardized High-Sensitivity Flow Cytometry Testing for Paroxysmal Nocturnal Hemoglobinuria in Children with Acquired Bone Marrow Failure Disorders: A Single Center U.S. Study. Cytometry B Clin Cytom. 2017 Jun 02. PMID: 28574201.
      View in: PubMed
    2. Fisher, KE, Hsu, AP, Williams, CL, Sayeed, H, Merritt, BY, Elghetany, MT, Holland, SM, Bertuch, AA and Gramatges, MM. Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency. Blood Advances. 2017; 1(7):443-8.
    3. Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA. Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 Jan; 49(1). PMID: 27824607.
      View in: PubMed
    4. Patel KR, Bertuch A, Sasa GS, Himes RW, Wu H. Features of Hepatitis in Hepatitis-associated Aplastic Anemia: Clinical and Histopathologic Study. J Pediatr Gastroenterol Nutr. 2017 Jan; 64(1):e7-e12. PMID: 28030425.
      View in: PubMed
    5. Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 Jan; 139(1):232-245. PMID: 27577878.
      View in: PubMed
    6. Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MM. Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group. J Clin Oncol. 2016 Jun 27. PMID: 27354474.
      View in: PubMed
    7. DiNardo CD, Bannon SA, Routbort M, Franklin A, Mork M, Armanios M, Mace EM, Orange JS, Jeff-Eke M, Churpek JE, Takahashi K, Jorgensen JL, Garcia-Manero G, Kornblau S, Bertuch A, Cheung H, Bhalla K, Futreal A, Godley LA, Patel KP. Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC). Clin Lymphoma Myeloma Leuk. 2016 Apr 27. PMID: 27210295.
      View in: PubMed
    8. Nelson ND, Marcogliese A, Bergstrom K, Scheurer M, Mahoney D, Bertuch AA. Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis. Pediatr Blood Cancer. 2016 Apr 21. PMID: 27100794.
      View in: PubMed
    9. Emerson CH, Bertuch AA. Consider the workhorse: Nonhomologous end-joining in budding yeast. Biochem Cell Biol. 2016 Mar 31; 1-11. PMID: 27240172.
      View in: PubMed
    10. Bertuch AA. The Molecular Genetics of the Telomere Biology Disorders. RNA Biol. 2015 Sep 23; 0. PMID: 26400640.
      View in: PubMed
    11. Polleys EJ, Bertuch AA. Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae. G3 (Bethesda). 2015 Jul; 5(7):1379-89. PMID: 25943524; PMCID: PMC4502372.
    12. Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il'yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 Jan; 107(1):384. PMID: 25482530; PMCID: PMC4296199.
    13. Bertuch AA. A new mutant at the end: TPP1, telomeres, and BMF. Blood. 2014 Oct 30; 124(18):2757-8. PMID: 25359981.
      View in: PubMed
    14. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 Oct; 34(7):871-90. PMID: 25073507; PMCID: PMC4386834.
    15. Carvalho CM, Zuccherato LW, Williams CL, Neill NJ, Murdock DR, Bainbridge M, Jhangiani SN, Muzny DM, Gibbs RA, Ip W, Guillerman RP, Lupski JR, Bertuch AA. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet. 2014; 15:64. PMID: 24898207; PMCID: PMC4057820.
    16. Williams JM, Ouenzar F, Lemon LD, Chartrand P, Bertuch AA. The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres. Genetics. 2014 Aug; 197(4):1123-36. PMID: 24879463; PMCID: PMC4125388.
    17. Hang LE, Lopez CR, Liu X, Williams JM, Chung I, Wei L, Bertuch AA, Zhao X. Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification. J Biol Chem. 2014 Apr 11; 289(15):10308-17. PMID: 24567323; PMCID: PMC4036155.
    18. Williams DA, Bennett C, Bertuch A, Bessler M, Coates T, Corey S, Dror Y, Huang J, Lipton J, Olson TS, Reiss UM, Rogers ZR, Sieff C, Vlachos A, Walkovich K, Wang W, Shimamura A. Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Pediatr Blood Cancer. 2014 May; 61(5):869-74. PMID: 24285674; PMCID: PMC4280184.
    19. Ribes-Zamora A, Indiviglio SM, Mihalek I, Williams CL, Bertuch AA. TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres. Cell Rep. 2013 Oct 17; 5(1):194-206. PMID: 24095731; PMCID: PMC3984498.
    20. Gramatges MM, Bertuch AA. Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013 Dec; 162(6):353-63. PMID: 23732052; PMCID: PMC3834083.
    21. Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AA. A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. 2013 May 2; 121(18):3586-93. PMID: 23538340; PMCID: PMC3643759.
    22. Cheung HC, San Lucas FA, Hicks S, Chang K, Bertuch AA, Ribes-Zamora A. An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control. BMC Genomics. 2012; 13:664. PMID: 23176708; PMCID: PMC3564818.
    23. Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LA. Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes. Leuk Lymphoma. 2013 Jan; 54(1):28-35. PMID: 22691122.
      View in: PubMed
    24. DeLario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C, Webb CR, Lopez-Terrada D, Venkateswaran L. Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults. Am J Hematol. 2012 May; 87(5):461-4. PMID: 22389089.
      View in: PubMed
    25. Canudas S, Houghtaling BR, Bhanot M, Sasa G, Savage SA, Bertuch AA, Smith S. A role for heterochromatin protein 1? at human telomeres. Genes Dev. 2011 Sep 1; 25(17):1807-19. PMID: 21865325; PMCID: PMC3175717.
    26. Lopez CR, Ribes-Zamora A, Indiviglio SM, Williams CL, Haricharan S, Bertuch AA. Ku must load directly onto the chromosome end in order to mediate its telomeric functions. PLoS Genet. 2011 Aug; 7(8):e1002233. PMID: 21852961; PMCID: PMC3154960.
    27. Nelson ND, Bertuch AA. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 1; 730(1-2):43-51. PMID: 21745483; PMCID: PMC3208805.
    28. Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8. PMID: 21477109; PMCID: PMC3844870.
    29. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010 Dec; 12(12):753-64. PMID: 21189492; PMCID: PMC3825100.
    30. Gramatges MM, Bertuch AA. Measuring relative telomere length: is tissue an issue? Aging (Albany NY). 2010 Nov; 2(11):756-7. PMID: 21113083; PMCID: PMC3006017.
    31. Stewart SA, Bertuch AA. The role of telomeres and telomerase in cancer research. Cancer Res. 2010 Oct 1; 70(19):7365-71. PMID: 20841475; PMCID: PMC2948573.
    32. Yustein JT, Rednam S, Bertuch AA, Goss JA, Brandt ML, Eldin K, Lu X, Hicks J. Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3). Pediatr Blood Cancer. 2010 Jul 1; 54(7):1041-4. PMID: 20162687.
      View in: PubMed
    33. Olofsson P, Bertuch AA. Modeling growth and telomere dynamics in Saccharomyces cerevisiae. J Theor Biol. 2010 Apr 7; 263(3):353-9. PMID: 20018194; PMCID: PMC3832845.
    34. Liti G, Haricharan S, Cubillos FA, Tierney AL, Sharp S, Bertuch AA, Parts L, Bailes E, Louis EJ. Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast. PLoS Genet. 2009 Sep; 5(9):e1000659. PMID: 19763176; PMCID: PMC2734985.
    35. Horton TM, Jenkins G, Pati D, Zhang L, Dolan ME, Ribes-Zamora A, Bertuch AA, Blaney SM, Delaney SL, Hegde M, Berg SL. 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. Mol Cancer Ther. 2009 Aug; 8(8):2232-42. PMID: 19671751; PMCID: PMC3741063.
    36. Marvin ME, Becker MM, Noel P, Hardy S, Bertuch AA, Louis EJ. The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences. Genetics. 2009 Oct; 183(2):453-67, 1SI-13SI. PMID: 19652176; PMCID: PMC2766309.
    37. Indiviglio SM, Bertuch AA. Ku's essential role in keeping telomeres intact. Proc Natl Acad Sci U S A. 2009 Jul 28; 106(30):12217-8. PMID: 19622731; PMCID: PMC2718394.
    38. Russell H, Hicks MJ, Bertuch AA, Chintagumpala M. Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy. Pediatr Blood Cancer. 2009 Jul; 53(1):23-7. PMID: 19340853.
      View in: PubMed
    39. Muscal JA, Jones JY, Paulino AC, Bertuch AA, Su J, Woo SY, Mahoney DH, Chintagumpala M. Changes mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma. Int J Radiat Oncol Biol Phys. 2009 Jan 1; 73(1):214-21. PMID: 18485616; PMCID: PMC2953789.
    40. Louis CU, Paulino AC, Gottschalk S, Bertuch AA, Chintagumpala M, Heslop HE, Russell HV. A single institution experience with pediatric nasopharyngeal carcinoma: high incidence of toxicity associated with platinum-based chemotherapy plus IMRT. J Pediatr Hematol Oncol. 2007 Jul; 29(7):500-5. PMID: 17609631.
      View in: PubMed
    41. Ribes-Zamora A, Mihalek I, Lichtarge O, Bertuch AA. Distinct faces of the Ku heterodimer mediate DNA repair and telomeric functions. Nat Struct Mol Biol. 2007 Apr; 14(4):301-7. PMID: 17351632.
      View in: PubMed
    42. Bertuch AA, Lundblad V. The maintenance and masking of chromosome termini. Curr Opin Cell Biol. 2006 Jun; 18(3):247-53. PMID: 16682180.
      View in: PubMed
    43. Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B, Lee B. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 2005 Dec 1; 14(23):3723-40. PMID: 16254002.
      View in: PubMed
    44. Bertuch AA, Lundblad V. EXO1 contributes to telomere maintenance in both telomerase-proficient and telomerase-deficient Saccharomyces cerevisiae. Genetics. 2004 Apr; 166(4):1651-9. PMID: 15126387; PMCID: PMC1470828.
    45. Bertuch AA, Lundblad V. The Ku heterodimer performs separable activities at double-strand breaks and chromosome termini. Mol Cell Biol. 2003 Nov; 23(22):8202-15. PMID: 14585978; PMCID: PMC262345.
    46. Bertuch AA, Lundblad V. Which end: dissecting Ku's function at telomeres and double-strand breaks. Genes Dev. 2003 Oct 1; 17(19):2347-50. PMID: 14522942.
      View in: PubMed
    47. Bertuch AA, Buckley K, Lundblad V. The way to the end matters--the role of telomerase in tumor progression. Cell Cycle. 2003 Jan-Feb; 2(1):36-8. PMID: 12695685.
      View in: PubMed
    48. Bertuch AA. Telomeres: the molecular events driving end-to-end fusions. Curr Biol. 2002 Oct 29; 12(21):R738-40. PMID: 12419205.
      View in: PubMed
    49. Evans SK, Bertuch AA, Lundblad V. Telomeres and telomerase: at the end, it all comes together. Trends Cell Biol. 1999 Aug; 9(8):329-31. PMID: 10490336.
      View in: PubMed
    50. Bertuch A, Lundblad V. Telomeres and double-strand breaks: trying to make ends meet. Trends Cell Biol. 1998 Sep; 8(9):339-42. PMID: 9728393.
      View in: PubMed
    51. Flannery TK, Kirkland JL, Copeland KC, Bertuch AA, Karaviti LP, Brandt ML. Papillary thyroid cancer: a pediatric perspective. Pediatrics. 1996 Sep; 98(3 Pt 1):464-6. PMID: 8784379.
      View in: PubMed
    52. Kim CH, Heath C, Bertuch A, Hansen U. Specific stimulation of simian virus 40 late transcription in vitro by a cellular factor binding the simian virus 40 21-base-pair repeat promoter element. Proc Natl Acad Sci U S A. 1987 Sep; 84(17):6025-9. PMID: 2819862; PMCID: PMC299000.
    BERTUCH's Networks
    Click the "See All" links for more information and interactive visualizations!
    Concepts Expand Description
    _
    Co-Authors Expand Description
    _
    Similar People Expand Description
    _
    Same Department Expand Description
    Physical Neighbors Expand Description
    _