Williams CL - Search Results

1

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: williams cl. BMC Med Genet. 2014 Jun 4;15:64. doi: 10.1186/1471-2350-15-64. BMC Med Genet. 2014. PMID: 24898207 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: williams cl. 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: williams cl. 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

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: williams cl. 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.

5

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: williams cl. Genetics. 2018 May;209(1):115-128. doi: 10.1534/genetics.117.300672. Epub 2018 Mar 2. Genetics. 2018. PMID: 29500182 Free PMC article.

6

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: williams cl. 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.

7

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. Foster JH, et al. Among authors: williams cl. Leuk Lymphoma. 2019 Apr;60(4):1083-1086. doi: 10.1080/10428194.2018.1516883. Epub 2018 Oct 2. Leuk Lymphoma. 2019. PMID: 30277109 No abstract available.

8

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: williams cl. 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.

9

Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.

Henslee G, Williams CL, Liu P, Bertuch AA. Henslee G, et al. Among authors: williams cl. Cold Spring Harb Mol Case Stud. 2021 Feb 19;7(1):a005454. doi: 10.1101/mcs.a005454. Print 2021 Feb. Cold Spring Harb Mol Case Stud. 2021. PMID: 33446513 Free PMC article.

10

Hyperextended telomeres promote C-circle formation 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: williams cl. bioRxiv [Preprint]. 2023 Jan 27:2023.01.26.525615. doi: 10.1101/2023.01.26.525615. bioRxiv. 2023. Update in: J Biol Chem. 2023 May;299(5):104665. doi: 10.1016/j.jbc.2023.104665 PMID: 36747763 Free PMC article. Updated. Preprint.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

694 results

Search Page

Filters