R01 HL131744/HL/NHLBI NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2015	1
2016	1
2018	2
2019	2
2020	2
2021	2
2022	0

1

The molecular genetics of the telomere biology disorders.

Bertuch AA. Bertuch AA. RNA Biol. 2016 Aug 2;13(8):696-706. doi: 10.1080/15476286.2015.1094596. Epub 2015 Sep 23. RNA Biol. 2016. PMID: 26400640 Free PMC article. Review.

2

Clinical and functional characterization of telomerase variants in patients with pediatric acute myeloid leukemia/myelodysplastic syndrome.

Tomlinson CG, Sasa G, Aubert G, Martin-Giacalone B, Plon SE, Bryan TM, Bertuch AA, Gramatges MM. Tomlinson CG, et al. Leukemia. 2021 Jan;35(1):269-273. doi: 10.1038/s41375-020-0835-8. Epub 2020 Apr 21. Leukemia. 2021. PMID: 32313107 Free PMC article. No abstract available.

3

The BUB3-BUB1 Complex Promotes Telomere DNA Replication.

Li F, Kim H, Ji Z, Zhang T, Chen B, Ge Y, Hu Y, Feng X, Han X, Xu H, Zhang Y, Yu H, Liu D, Ma W, Songyang Z. Li F, et al. Mol Cell. 2018 May 3;70(3):395-407.e4. doi: 10.1016/j.molcel.2018.03.032. Mol Cell. 2018. PMID: 29727616 Free PMC article.

4

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. 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.

5

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. 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.

6

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.

Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA. Dodson LM, et al. Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15. Hum Mutat. 2019. PMID: 31448843 Free PMC article.

7

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. 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.

8

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. Agrusa JE, et al. Pediatr Blood Cancer. 2019 Aug;66(8):e27779. doi: 10.1002/pbc.27779. Epub 2019 May 2. Pediatr Blood Cancer. 2019. PMID: 31050187 Free PMC article.

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