ALISON BERTUCH

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address1102 BATES
Houston, TX 77030
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    Other Positions
    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentDepartment of Molecular & Human Genetics
    DivisionMolecular & Human Genetics

    TitleProfessor
    InstitutionBaylor College of Medicine
    DepartmentHuffington Center on Aging
    DivisionHuffington Ctr on Aging


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    K08HD001231     (BERTUCH, ALISON ANN)Feb 10, 1999 - Jan 31, 2005
    NIH
    KU COMPLEX AND TELOMERE END PROTECTION
    Role: Principal Investigator

    R01GM077509     (BERTUCH, ALISON A)Sep 21, 2007 - Sep 30, 2019
    NIH
    Roles of Ku and its interaction partners in telomere function and DNA repair
    Role: Principal Investigator

    R01HL131744     (BERTUCH, ALISON A)May 15, 2016 - Jul 31, 2020
    NIH
    Molecular Genetics of Dyskeratosis Congenita
    Role: Principal Investigator

    R01CA211653     (BERTUCH, ALISON A)Jan 1, 2017 - Dec 31, 2022
    NIH
    THE ROLE OF TELOMERASE REGULATORS IN TELOMERE MAINTENANCE AND GENOMIC INSTABILITY
    Role: Principal Investigator

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    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Thongon N, Ma F, Santoni A, Marchesini M, Fiorini E, Rose A, Adema V, Ganan-Gomez I, Groarke EM, Gutierrez-Rodrigues F, Chen S, Lockyer P, Schneider S, Bueso-Ramos C, Montalban-Bravo G, Class CA, Soltysiak KA, Pellegrini M, Sahin E, Bertuch AA, DiNardo CD, Garcia-Manero G, Young NS, Dwyer K, Colla S. Hematopoiesis under telomere attrition at the single-cell resolution. Nat Commun. 2021 Nov 25; 12(1):6850. PMID: 34824242.
      Citations:    Fields:    
    2. Kozyra EJ, Gohring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Stary J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai-Birenboim S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo HB, Buechner J, Cermák M, Cervera J, Haus O, Jahnukainen K, Manola K, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Nöllke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations. Blood. 2021 Sep 01. PMID: 34469508.
      Citations:    Fields:    
    3. Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121. PMID: 34159722.
      Citations:    Fields:    
    4. Kennedy AL, Myers KC, Bowman J, Gibson CJ, Camarda ND, Furutani E, Muscato GM, Klein RH, Ballotti K, Liu S, Harris CE, Galvin A, Malsch M, Dale D, Gansner JM, Nakano TA, Bertuch A, Vlachos A, Lipton JM, Castillo P, Connelly J, Churpek J, Edwards JR, Hijiya N, Ho RH, Hofmann I, Huang JN, Keel S, Lamble A, Lau BW, Norkin M, Stieglitz E, Stock W, Walkovich K, Boettcher S, Brendel C, Fleming MD, Davies SM, Weller EA, Bahl C, Carter SL, Shimamura A, Lindsley RC. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome. Nat Commun. 2021 02 26; 12(1):1334. PMID: 33637765.
      Citations: 7     Fields:    Translation:HumansCells
    5. Henslee G, Williams CL, Liu P, Bertuch AA. Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length. Cold Spring Harb Mol Case Stud. 2021 02; 7(1). PMID: 33446513.
      Citations: 1     Fields:    Translation:HumansCells
    6. Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4. PMID: 32971146.
      Citations:    Fields:    Translation:HumansCells
    7. Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 11; 182(11):2781-2787. PMID: 32909658.
      Citations: 1     Fields:    Translation:Humans
    8. Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia. Hum Mutat. 2020 11; 41(11):1918-1930. PMID: 32790018.
      Citations: 2     Fields:    Translation:HumansCells
    9. Pulsipher MA, Lehmann LE, Bertuch AA, Sasa G, Olson T, Nakano T, Gilio A, Burroughs LM, Lipton JM, Huang JN, Dickerson K, Bertaina A, Zhuang C, Malsch M, Fleming M, Weller E, Shimamura A, Williams DA. A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium. Pediatr Blood Cancer. 2020 10; 67(10):e28444. PMID: 32776425.
      Citations:    Fields:    Translation:Humans
    10. Tomlinson CG, Sasa G, Aubert G, Martin-Giacalone B, Plon SE, Bryan TM, Bertuch AA, Gramatges MM. Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome. Leukemia. 2021 01; 35(1):269-273. PMID: 32313107.
      Citations:    Fields:    Translation:Humans
    11. Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Blood Adv. 2019 10 22; 3(20):2962-2979. PMID: 31648317.
      Citations: 22     Fields:    Translation:Humans
    12. Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA. From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429. PMID: 31448843.
      Citations: 6     Fields:    Translation:HumansCells
    13. Lemon LD, Morris DK, Bertuch AA. Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis. Sci Rep. 2019 07 23; 9(1):10607. PMID: 31337791.
      Citations: 3     Fields:    Translation:AnimalsCells
    14. Rogers ZR, Nakano TA, Olson TS, Bertuch AA, Wang W, Gillio A, Coates TD, Chawla A, Castillo P, Kurre P, Gamper C, Bennett CM, Joshi S, Geddis AE, Boklan J, Nalepa G, Rothman JA, Huang JN, Kupfer GM, Cada M, Glader B, Walkovich KJ, Thompson AA, Hanna R, Vlachos A, Malsch M, Weller EA, Williams DA, Shimamura A. Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study. Haematologica. 2019 10; 104(10):1974-1983. PMID: 30948484.
      Citations: 3     Fields:    Translation:HumansCTClinical Trials
    15. Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 03 07; 104(3):422-438. PMID: 30773277.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    16. Foster JH, Williams CL, Elghetany MT, Liu P, Krance RA, Bertuch AA, Gramatges MM. Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation. Leuk Lymphoma. 2019 04; 60(4):1083-1086. PMID: 30277109.
      Citations:    Fields:    Translation:HumansCells
    17. Higgs C, Crow YJ, Adams DM, Chang E, Hayes D, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA. Understanding the evolving phenotype of vascular complications in telomere biology disorders. Angiogenesis. 2019 02; 22(1):95-102. PMID: 30168024.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    18. Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SA. Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood Adv. 2018 06 12; 2(11):1243-1249. PMID: 29853525.
      Citations: 7     Fields:    Translation:HumansCellsCTClinical Trials
    19. Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA. The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion. Mol Cell Biol. 2018 06 15; 38(12). PMID: 29581185.
      Citations: 9     Fields:    Translation:HumansCells
    20. Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662. PMID: 29784638.
      Citations:    Fields:    Translation:Humans
    21. Emerson CH, Lopez CR, Ribes-Zamora A, Polleys EJ, Williams CL, Yeo L, Zaneveld JE, Chen R, Bertuch AA. Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae. Genetics. 2018 05; 209(1):115-128. PMID: 29500182.
      Citations: 4     Fields:    Translation:AnimalsCells
    22. Chen H, Xue J, Churikov D, Hass EP, Shi S, Lemon LD, Luciano P, Bertuch AA, Zappulla DC, Géli V, Wu J, Lei M. Structural Insights into Yeast Telomerase Recruitment to Telomeres. Cell. 2018 01 11; 172(1-2):331-343.e13. PMID: 29290466.
      Citations: 27     Fields:    Translation:AnimalsCells
    23. Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC. Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416. PMID: 29092827.
      Citations: 30     Fields:    Translation:HumansCells
    24. 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 US study. Cytometry B Clin Cytom. 2018 07; 94(4):699-704. PMID: 28574201.
      Citations: 3     Fields:    Translation:Humans
    25. Fisher KE, Hsu AP, Williams CL, Sayeed H, Merritt BY, Elghetany MT, Holland SM, Bertuch AA, Gramatges MM. Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency. Blood Adv. 2017 Feb 28; 1(7):443-448. PMID: 29296959.
      Citations: 9     Fields:    
    26. 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 01; 64(1):e7-e12. PMID: 28030425.
      Citations: 3     Fields:    Translation:Humans
    27. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 30158690.
      Citations: 18     Fields:    Translation:Humans
    28. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 30198636.
      Citations: 3     Fields:    Translation:Humans
    29. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 31050187.
      Citations: 1     Fields:    Translation:HumansCells
    30. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 27824607.
      Citations: 9     Fields:    Translation:HumansCells
    31. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 24898207.
      Citations: 1     Fields:    Translation:HumansCells
    32. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 25073507.
      Citations: 24     Fields:    Translation:HumansCells
    33. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 25359981.
      Citations:    Fields:    Translation:HumansCells
    34. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 17609631.
      Citations: 7     Fields:    Translation:Humans
    35. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 19340853.
      Citations: 10     Fields:    Translation:Humans
    36. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 22691122.
      Citations: 35     Fields:    Translation:Humans
    37. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 12695685.
      Citations:    Translation:HumansAnimalsCells
    38. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 21865325.
      Citations: 60     Fields:    Translation:HumansCells
    39. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 23732052.
      Citations: 31     Fields:    Translation:HumansCells
    40. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 32958778.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    41. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 34342889.
      Citations: 2     Fields:    Translation:Humans
    42. Zhuang H, Bai J, Chang JY, Yuan Z, Wang P. MTOR inhibition reversed drug resistance after combination radiation with erlotinib in lung adenocarcinoma. Oncotarget. 2016 Dec 20; 7(51):84688-84694. PMID: 34758064.
      Citations:    Fields:    
    43. 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 11 01; 34(31):3766-3772. PMID: 27354474.
      Citations: 7     Fields:    Translation:HumansCells
    44. 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 LTN, 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 01; 139(1):232-245. PMID: 27577878.
      Citations: 77     Fields:    Translation:Humans
    45. 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 07; 16(7):417-428.e2. PMID: 27210295.
      Citations: 27     Fields:    Translation:Humans
    46. 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 08; 63(8):1484-7. PMID: 27100794.
      Citations: 2     Fields:    Translation:Humans
    47. Emerson CH, Bertuch AA. Consider the workhorse: Nonhomologous end-joining in budding yeast. Biochem Cell Biol. 2016 Oct; 94(5):396-406. PMID: 27240172.
      Citations: 19     Fields:    Translation:AnimalsCells
    48. Bertuch AA. The molecular genetics of the telomere biology disorders. RNA Biol. 2016 08 02; 13(8):696-706. PMID: 26400640.
      Citations: 52     Fields:    Translation:HumansAnimalsCells
    49. Polleys EJ, Bertuch AA. Tryptophan-Dependent Control of Colony Formation After DNA Damage via Sea3-Regulated TORC1 Signaling in Saccharomyces cerevisiae. G3 (Bethesda). 2015 May 04; 5(7):1379-89. PMID: 25943524.
      Citations: 1     Fields:    Translation:AnimalsCells
    50. 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.
      Citations: 90     Fields:    Translation:Humans
    51. 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.
      Citations: 8     Fields:    Translation:AnimalsCells
    52. 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):10308-10317. PMID: 24567323.
      Citations: 15     Fields:    Translation:AnimalsCells
    53. 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.
      Citations: 5     Fields:    Translation:Humans
    54. 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.
      Citations: 24     Fields:    Translation:HumansCells
    55. 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 02; 121(18):3586-93. PMID: 23538340.
      Citations: 10     Fields:    Translation:HumansCells
    56. 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 Nov 23; 13:664. PMID: 23176708.
      Citations: 9     Fields:    Translation:HumansAnimalsCells
    57. 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.
      Citations: 8     Fields:    Translation:Humans
    58. 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.
      Citations: 23     Fields:    Translation:AnimalsCells
    59. Nelson ND, Bertuch AA. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 01; 730(1-2):43-51. PMID: 21745483.
      Citations: 52     Fields:    Translation:HumansCells
    60. 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.
      Citations: 35     Fields:    Translation:HumansCells
    61. Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med. 2010 Dec; 12(12):753-64. PMID: 21189492.
      Citations: 92     Fields:    Translation:HumansCells
    62. Gramatges MM, Bertuch AA. Measuring relative telomere length: is tissue an issue? Aging (Albany NY). 2010 Nov; 2(11):756-7. PMID: 21113083.
      Citations: 4     Fields:    Translation:HumansCells
    63. Stewart SA, Bertuch AA. The role of telomeres and telomerase in cancer research. Cancer Res. 2010 Oct 01; 70(19):7365-71. PMID: 20841475.
      Citations: 10     Fields:    Translation:HumansAnimalsCells
    64. 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 01; 54(7):1041-4. PMID: 20162687.
      Citations: 1     Fields:    Translation:HumansCells
    65. Olofsson P, Bertuch AA. Modeling growth and telomere dynamics in Saccharomyces cerevisiae. J Theor Biol. 2010 Apr 07; 263(3):353-9. PMID: 20018194.
      Citations: 2     Fields:    Translation:AnimalsCells
    66. 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.
      Citations: 25     Fields:    Translation:AnimalsCells
    67. 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.
      Citations: 32     Fields:    Translation:HumansCells
    68. 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.
      Citations: 16     Fields:    Translation:AnimalsCells
    69. 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.
      Citations: 9     Fields:    Translation:HumansCells
    70. 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 01; 73(1):214-21. PMID: 18485616.
      Citations: 4     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
    71. 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.
      Citations: 63     Fields:    Translation:HumansAnimalsCells
    72. Bertuch AA, Lundblad V. The maintenance and masking of chromosome termini. Curr Opin Cell Biol. 2006 Jun; 18(3):247-53. PMID: 16682180.
      Citations: 30     Fields:    Translation:HumansCells
    73. 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 01; 14(23):3723-40. PMID: 16254002.
      Citations: 38     Fields:    Translation:HumansAnimalsCells
    74. 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.
      Citations: 51     Fields:    Translation:AnimalsCells
    75. 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.
      Citations: 45     Fields:    Translation:HumansCells
    76. Bertuch AA, Lundblad V. Which end: dissecting Ku's function at telomeres and double-strand breaks. Genes Dev. 2003 Oct 01; 17(19):2347-50. PMID: 14522942.
      Citations: 21     Fields:    Translation:HumansAnimalsCells
    77. Bertuch AA. Telomeres: the molecular events driving end-to-end fusions. Curr Biol. 2002 Oct 29; 12(21):R738-40. PMID: 12419205.
      Citations: 2     Fields:    Translation:Cells
    78. 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.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    79. 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.
      Citations: 12     Fields:    Translation:Cells
    80. 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.
      Citations: 2     Fields:    Translation:Humans
    81. 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.
      Citations: 35     Fields:    Translation:HumansCells
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