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

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.

3

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.

4

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.

5

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.

6

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. Fisher KE, et al. Among authors: bertuch aa. Blood Adv. 2017 Feb 27;1(7):443-448. doi: 10.1182/bloodadvances.2016002311. eCollection 2017 Feb 28. Blood Adv. 2017. PMID: 29296959 Free PMC article.

7

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. Emerson CH, et al. Among authors: bertuch aa. Genetics. 2018 May;209(1):115-128. doi: 10.1534/genetics.117.300672. Epub 2018 Mar 2. Genetics. 2018. PMID: 29500182 Free PMC article.

8

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. Nelson ND, et al. Among authors: bertuch aa. Mol Cell Biol. 2018 May 29;38(12):e00025-18. doi: 10.1128/MCB.00025-18. Print 2018 Jun 15. Mol Cell Biol. 2018. PMID: 29581185 Free PMC article.

9

Loss of Ku's DNA end binding activity affects telomere length via destabilizing telomere-bound Est1 rather than altering TLC1 homeostasis.

Lemon LD, Morris DK, Bertuch AA. Lemon LD, et al. Among authors: bertuch aa. Sci Rep. 2019 Jul 23;9(1):10607. doi: 10.1038/s41598-019-46840-2. Sci Rep. 2019. PMID: 31337791 Free PMC article.

10

Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

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. Bhar S, et al. Among authors: bertuch aa. Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30. Hum Mutat. 2020. PMID: 32790018 Free PMC article.

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