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Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Among authors: nandakumar j. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
The shelterin complex and hematopoiesis.
Jones M, Bisht K, Savage SA, Nandakumar J, Keegan CE, Maillard I. Jones M, et al. Among authors: nandakumar j. J Clin Invest. 2016 May 2;126(5):1621-9. doi: 10.1172/JCI84547. Epub 2016 May 2. J Clin Invest. 2016. PMID: 27135879 Free PMC article. Review.
Structural biology of telomeres and telomerase.
Smith EM, Pendlebury DF, Nandakumar J. Smith EM, et al. Among authors: nandakumar j. Cell Mol Life Sci. 2020 Jan;77(1):61-79. doi: 10.1007/s00018-019-03369-x. Epub 2019 Nov 14. Cell Mol Life Sci. 2020. PMID: 31728577 Free PMC article. Review.
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