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Items: 1 to 50 of 60

1.

Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.

Agrusa JE, Bertuch AA, DiNardo CD, Plon SE, Eckstein OS.

Pediatr Blood Cancer. 2019 May 2:e27779. doi: 10.1002/pbc.27779. [Epub ahead of print]

PMID:
31050187
2.

Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study.

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.

Haematologica. 2019 Apr 4. pii: haematol.2018.206540. doi: 10.3324/haematol.2018.206540. [Epub ahead of print]

3.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

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; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, 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.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

4.

Monozygotic twins with non-Down syndrome associated MLL-rearranged hematologic malignancy and megakaryoblastic differentiation.

Foster JH, Williams CL, Elghetany MT, Liu P, Krance RA, Bertuch AA, Gramatges MM.

Leuk Lymphoma. 2019 Apr;60(4):1083-1086. doi: 10.1080/10428194.2018.1516883. Epub 2018 Oct 2. No abstract available.

PMID:
30277109
5.

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.

Hashmi SK, Bergstrom K, Bertuch AA, Despotovic JM, Muscal E, Xia F, Bi W, Marcogliese A, Diaz R.

Pediatr Blood Cancer. 2019 Jan;66(1):e27439. doi: 10.1002/pbc.27439. Epub 2018 Sep 10.

PMID:
30198636
6.

Understanding the evolving phenotype of vascular complications in telomere biology disorders.

Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, 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; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA).

Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25.

PMID:
30168024
7.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L, McGuire M, Pietryga M, Ramsdell L, Slattery L; DDD Study, Abid F, Bertuch AA, Grange D, Immken L, Schaaf CP, Van Esch H, Bi W, Cheung SW, Breman AM, Smith JL, Shaw C, Crosby AH, Eng C, Yang Y, Lupski JR, Xiao R, Liu P.

Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30.

8.

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SA.

Blood Adv. 2018 Jun 12;2(11):1243-1249. doi: 10.1182/bloodadvances.2018016964.

9.

Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

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.

Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21. No abstract available.

PMID:
29784638
10.

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.

Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA.

Mol Cell Biol. 2018 May 29;38(12). pii: e00025-18. doi: 10.1128/MCB.00025-18. Print 2018 Jun 15.

11.

Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in Saccharomyces cerevisiae.

Emerson CH, Lopez CR, Ribes-Zamora A, Polleys EJ, Williams CL, Yeo L, Zaneveld JE, Chen R, Bertuch AA.

Genetics. 2018 May;209(1):115-128. doi: 10.1534/genetics.117.300672. Epub 2018 Mar 2.

12.

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency.

Fisher KE, Hsu AP, Williams CL, Sayeed H, Merritt BY, Elghetany MT, Holland SM, Bertuch AA, Gramatges MM.

Blood Adv. 2017 Feb 27;1(7):443-448. doi: 10.1182/bloodadvances.2016002311. eCollection 2017 Feb 28.

13.

Structural Insights into Yeast Telomerase Recruitment to Telomeres.

Chen H, Xue J, Churikov D, Hass EP, Shi S, Lemon LD, Luciano P, Bertuch AA, Zappulla DC, Géli V, Wu J, Lei M.

Cell. 2018 Jan 11;172(1-2):331-343.e13. doi: 10.1016/j.cell.2017.12.008. Epub 2017 Dec 28.

14.

Somatic mutations and clonal hematopoiesis in congenital neutropenia.

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.

Blood. 2018 Jan 25;131(4):408-416. doi: 10.1182/blood-2017-08-801985. Epub 2017 Nov 1.

15.

Standardized high-sensitivity flow cytometry testing for paroxysmal nocturnal hemoglobinuria in children with acquired bone marrow failure disorders: A single center US study.

Donohue RE, Marcogliese AN, Sasa GS, Elghetany MT, Redkar AA, Bertuch AA, Curry CV.

Cytometry B Clin Cytom. 2018 Jul;94(4):699-704. doi: 10.1002/cyto.b.21536. Epub 2017 Jun 27.

PMID:
28574201
16.

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

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.

Eur Respir J. 2017 Jan 25;49(1). pii: 1601640. doi: 10.1183/13993003.01640-2016. Print 2017 Jan. No abstract available.

17.

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

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.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832.

18.

Shorter Remission Telomere Length Predicts Delayed Neutrophil Recovery After Acute Myeloid Leukemia Therapy: A Report From the Children's Oncology Group.

Gerbing RB, Alonzo TA, Sung L, Gamis AS, Meshinchi S, Plon SE, Bertuch AA, Gramatges MM.

J Clin Oncol. 2016 Nov 1;34(31):3766-3772. doi: 10.1200/JCO.2016.66.9622.

19.

Consider the workhorse: Nonhomologous end-joining in budding yeast.

Emerson CH, Bertuch AA.

Biochem Cell Biol. 2016 Oct;94(5):396-406. Epub 2016 Mar 31. Review.

20.

Thrombopoietin Measurement as a Key Component in the Evaluation of Pediatric Thrombocytosis.

Nelson ND, Marcogliese A, Bergstrom K, Scheurer M, Mahoney D, Bertuch AA.

Pediatr Blood Cancer. 2016 Aug;63(8):1484-7. doi: 10.1002/pbc.26032. Epub 2016 Apr 21.

21.

The molecular genetics of the telomere biology disorders.

Bertuch AA.

RNA Biol. 2016 Aug 2;13(8):696-706. doi: 10.1080/15476286.2015.1094596. Epub 2015 Sep 23. Review.

22.
23.

Germline mutations in shelterin complex genes are associated with familial glioma.

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; Gliogene Consortium.

J Natl Cancer Inst. 2014 Dec 7;107(1):384. doi: 10.1093/jnci/dju384. Print 2015 Jan.

24.

A new mutant at the end: TPP1, telomeres, and BMF.

Bertuch AA.

Blood. 2014 Oct 30;124(18):2757-8. doi: 10.1182/blood-2014-09-599688. No abstract available.

25.

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

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.

J Clin Immunol. 2014 Oct;34(7):871-90. doi: 10.1007/s10875-014-0074-8. Epub 2014 Jul 30.

26.

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

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.

BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64.

27.

The principal role of Ku in telomere length maintenance is promotion of Est1 association with telomeres.

Williams JM, Ouenzar F, Lemon LD, Chartrand P, Bertuch AA.

Genetics. 2014 Aug;197(4):1123-36. doi: 10.1534/genetics.114.164707. Epub 2014 May 30.

28.

Regulation of Ku-DNA association by Yku70 C-terminal tail and SUMO modification.

Hang LE, Lopez CR, Liu X, Williams JM, Chung I, Wei L, Bertuch AA, Zhao X.

J Biol Chem. 2014 Apr 11;289(15):10308-17. doi: 10.1074/jbc.M113.526178. Epub 2014 Feb 24.

29.

TRF2 interaction with Ku heterotetramerization interface gives insight into c-NHEJ prevention at human telomeres.

Ribes-Zamora A, Indiviglio SM, Mihalek I, Williams CL, Bertuch AA.

Cell Rep. 2013 Oct 17;5(1):194-206. doi: 10.1016/j.celrep.2013.08.040. Epub 2013 Oct 3.

30.

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Gramatges MM, Bertuch AA.

Transl Res. 2013 Dec;162(6):353-63. doi: 10.1016/j.trsl.2013.05.003. Epub 2013 Jun 1. Review.

31.

A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.

Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AA.

Blood. 2013 May 2;121(18):3586-93. doi: 10.1182/blood-2012-08-447755. Epub 2013 Mar 28.

32.

An S/T-Q cluster domain census unveils new putative targets under Tel1/Mec1 control.

Cheung HC, San Lucas FA, Hicks S, Chang K, Bertuch AA, Ribes-Zamora A.

BMC Genomics. 2012 Nov 23;13:664. doi: 10.1186/1471-2164-13-664.

33.

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes.

Churpek JE, Lorenz R, Nedumgottil S, Onel K, Olopade OI, Sorrell A, Owen CJ, Bertuch AA, Godley LA.

Leuk Lymphoma. 2013 Jan;54(1):28-35. doi: 10.3109/10428194.2012.701738. Epub 2012 Jul 9. Review.

PMID:
22691122
34.

Clinical, histopathologic, and genetic features of pediatric primary myelofibrosis--an entity different from adults.

DeLario MR, Sheehan AM, Ataya R, Bertuch AA, Vega C 2nd, Webb CR, Lopez-Terrada D, Venkateswaran L.

Am J Hematol. 2012 May;87(5):461-4. doi: 10.1002/ajh.23140. Epub 2012 Mar 3.

35.

A role for heterochromatin protein 1γ at human telomeres.

Canudas S, Houghtaling BR, Bhanot M, Sasa G, Savage SA, Bertuch AA, Smith S.

Genes Dev. 2011 Sep 1;25(17):1807-19. doi: 10.1101/gad.17325211. Epub 2011 Aug 24.

36.

Ku must load directly onto the chromosome end in order to mediate its telomeric functions.

Lopez CR, Ribes-Zamora A, Indiviglio SM, Williams CL, Haricharan S, Bertuch AA.

PLoS Genet. 2011 Aug;7(8):e1002233. doi: 10.1371/journal.pgen.1002233. Epub 2011 Aug 11.

37.

Dyskeratosis congenita as a disorder of telomere maintenance.

Nelson ND, Bertuch AA.

Mutat Res. 2012 Feb 1;730(1-2):43-51. doi: 10.1016/j.mrfmmm.2011.06.008. Epub 2011 Jul 2. Review.

38.

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA.

Clin Genet. 2012 May;81(5):470-8. doi: 10.1111/j.1399-0004.2011.01658.x. Epub 2011 Apr 7.

39.

The genetics and clinical manifestations of telomere biology disorders.

Savage SA, Bertuch AA.

Genet Med. 2010 Dec;12(12):753-64. doi: 10.1097/GIM.0b013e3181f415b5. Review.

40.

Measuring relative telomere length: is tissue an issue?

Gramatges MM, Bertuch AA.

Aging (Albany NY). 2010 Nov;2(11):756-7. No abstract available.

41.

The role of telomeres and telomerase in cancer research.

Stewart SA, Bertuch AA.

Cancer Res. 2010 Oct 1;70(19):7365-71. doi: 10.1158/0008-5472.CAN-10-1373. Epub 2010 Sep 14.

42.

Abdominal undifferentiated small round cell tumor with unique translocation (X;19)(q13;q13.3).

Yustein JT, Rednam S, Bertuch AA, Goss JA, Brandt ML, Eldin K, Lu X, Hicks J.

Pediatr Blood Cancer. 2010 Jul 1;54(7):1041-4. doi: 10.1002/pbc.22437.

PMID:
20162687
43.

Modeling growth and telomere dynamics in Saccharomyces cerevisiae.

Olofsson P, Bertuch AA.

J Theor Biol. 2010 Apr 7;263(3):353-9. doi: 10.1016/j.jtbi.2009.12.004. Epub 2009 Dec 16.

44.

Segregating YKU80 and TLC1 alleles underlying natural variation in telomere properties in wild yeast.

Liti G, Haricharan S, Cubillos FA, Tierney AL, Sharp S, Bertuch AA, Parts L, Bailes E, Louis EJ.

PLoS Genet. 2009 Sep;5(9):e1000659. doi: 10.1371/journal.pgen.1000659. Epub 2009 Sep 18.

45.

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.

Horton TM, Jenkins G, Pati D, Zhang L, Dolan ME, Ribes-Zamora A, Bertuch AA, Blaney SM, Delaney SL, Hegde M, Berg SL.

Mol Cancer Ther. 2009 Aug;8(8):2232-42. doi: 10.1158/1535-7163.MCT-09-0142. Epub 2009 Aug 11.

46.

The association of yKu with subtelomeric core X sequences prevents recombination involving telomeric sequences.

Marvin ME, Becker MM, Noel P, Hardy S, Bertuch AA, Louis EJ.

Genetics. 2009 Oct;183(2):453-67, 1SI-13SI. doi: 10.1534/genetics.109.106682. Epub 2009 Aug 3.

47.

Ku's essential role in keeping telomeres intact.

Indiviglio SM, Bertuch AA.

Proc Natl Acad Sci U S A. 2009 Jul 28;106(30):12217-8. doi: 10.1073/pnas.0906427106. Epub 2009 Jul 21. No abstract available.

48.

Infantile fibrosarcoma: clinical and histologic responses to cytotoxic chemotherapy.

Russell H, Hicks MJ, Bertuch AA, Chintagumpala M.

Pediatr Blood Cancer. 2009 Jul;53(1):23-7. doi: 10.1002/pbc.21981.

PMID:
19340853
49.

Changes mimicking new leptomeningeal disease after intensity-modulated radiotherapy for medulloblastoma.

Muscal JA, Jones JY, Paulino AC, Bertuch AA, Su J, Woo SY, Mahoney DH Jr, Chintagumpala M.

Int J Radiat Oncol Biol Phys. 2009 Jan 1;73(1):214-21. doi: 10.1016/j.ijrobp.2008.03.056. Epub 2008 May 15.

50.

A single institution experience with pediatric nasopharyngeal carcinoma: high incidence of toxicity associated with platinum-based chemotherapy plus IMRT.

Louis CU, Paulino AC, Gottschalk S, Bertuch AA, Chintagumpala M, Heslop HE, Russell HV.

J Pediatr Hematol Oncol. 2007 Jul;29(7):500-5.

PMID:
17609631

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