Bertuch AA - Search Results

1

Hyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells.

Jones CY, Williams CL, Moreno SP, Morris DK, Mondello C, Karlseder J, Bertuch AA. Jones CY, et al. Among authors: bertuch aa. J Biol Chem. 2023 May;299(5):104665. doi: 10.1016/j.jbc.2023.104665. Epub 2023 Mar 30. J Biol Chem. 2023. PMID: 37003504 Free PMC article.

2

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. Bainbridge MN, et al. Among authors: bertuch aa. J Natl Cancer Inst. 2014 Dec 7;107(1):384. doi: 10.1093/jnci/dju384. Print 2015 Jan. J Natl Cancer Inst. 2014. PMID: 25482530 Free PMC article.

3

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. Yuan B, et al. Among authors: bertuch aa. Genet Med. 2019 Mar;21(3):663-675. doi: 10.1038/s41436-018-0085-6. Epub 2018 Aug 30. Genet Med. 2019. PMID: 30158690 Free PMC article.

4

The genetics and clinical manifestations of telomere biology disorders.

Savage SA, Bertuch AA. Savage SA, et al. Among authors: bertuch aa. Genet Med. 2010 Dec;12(12):753-64. doi: 10.1097/GIM.0b013e3181f415b5. Genet Med. 2010. PMID: 21189492 Free PMC article. Review.

5

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.

Kim CH, Heath C, Bertuch A, Hansen U. Kim CH, et al. Proc Natl Acad Sci U S A. 1987 Sep;84(17):6025-9. doi: 10.1073/pnas.84.17.6025. Proc Natl Acad Sci U S A. 1987. PMID: 2819862 Free PMC article.

6

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. Marvin ME, et al. Among authors: bertuch aa. Genetics. 2009 Oct;183(2):453-67, 1SI-13SI. doi: 10.1534/genetics.109.106682. Epub 2009 Aug 3. Genetics. 2009. PMID: 19652176 Free PMC article.

7

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. Lopez CR, et al. Among authors: bertuch aa. PLoS Genet. 2011 Aug;7(8):e1002233. doi: 10.1371/journal.pgen.1002233. Epub 2011 Aug 11. PLoS Genet. 2011. PMID: 21852961 Free PMC article.

8

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. Ribes-Zamora A, et al. Among authors: bertuch aa. Cell Rep. 2013 Oct 17;5(1):194-206. doi: 10.1016/j.celrep.2013.08.040. Epub 2013 Oct 3. Cell Rep. 2013. PMID: 24095731 Free PMC article.

9

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. Hang LE, et al. Among authors: bertuch aa. J Biol Chem. 2014 Apr 11;289(15):10308-10317. doi: 10.1074/jbc.M113.526178. Epub 2014 Feb 24. J Biol Chem. 2014. PMID: 24567323 Free PMC article.

10

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. Carvalho CM, et al. Among authors: bertuch aa. BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64. BMC Med Genet. 2014. PMID: 24898207 Free PMC article.

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