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Dyskeratosis congenita as a disorder of telomere maintenance.
Nelson ND, Bertuch AA. Nelson ND, et al. Among authors: bertuch aa. Mutat Res. 2012 Feb 1;730(1-2):43-51. doi: 10.1016/j.mrfmmm.2011.06.008. Epub 2011 Jul 2. Mutat Res. 2012. PMID: 21745483 Free PMC article. Review.
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.
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). Higgs C, et al. Among authors: bertuch aa. Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25. Angiogenesis. 2019. PMID: 30168024 Free article. Review.
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.
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. Among authors: bertuch aa. J Pediatr. 2021 Mar;230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21. J Pediatr. 2021. PMID: 32971146
88 results