PubMed (OMIM) for id: 7012

Year	Number of Results
1982	1
1988	1
1992	1
1995	1
1996	1
1997	2
1998	4
1999	3
2000	4
2001	2
2002	3
2003	4
2004	1
2005	1
2007	5
2008	5
2009	4
2010	2
2011	2
2012	1
2013	2
2015	1
2023	1
2024	0

1

T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers.

Schratz KE, Flasch DA, Atik CC, Cosner ZL, Blackford AL, Yang W, Gable DL, Vellanki PJ, Xiang Z, Gaysinskaya V, Vonderheide RH, Rooper LM, Zhang J, Armanios M. Schratz KE, et al. Cancer Cell. 2023 Apr 10;41(4):807-817.e6. doi: 10.1016/j.ccell.2023.03.005. Epub 2023 Apr 2. Cancer Cell. 2023. PMID: 37037617 Free PMC article.

2

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.

Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S. Moon DH, et al. Nat Genet. 2015 Dec;47(12):1482-8. doi: 10.1038/ng.3423. Epub 2015 Oct 19. Nat Genet. 2015. PMID: 26482878 Free PMC article.

3

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Walne AJ, et al. Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453664 Free PMC article.

4

The gastrointestinal manifestations of telomere-mediated disease.

Jonassaint NL, Guo N, Califano JA, Montgomery EA, Armanios M. Jonassaint NL, et al. Aging Cell. 2013 Apr;12(2):319-23. doi: 10.1111/acel.12041. Epub 2013 Jan 4. Aging Cell. 2013. PMID: 23279657 Free PMC article.

5

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP. Jongmans MC, et al. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 Free PMC article.

6

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. Parry EM, et al. Blood. 2011 May 26;117(21):5607-11. doi: 10.1182/blood-2010-11-322149. Epub 2011 Mar 24. Blood. 2011. PMID: 21436073 Free PMC article.

7

Telomere dysfunction induces metabolic and mitochondrial compromise.

Sahin E, Colla S, Liesa M, Moslehi J, Müller FL, Guo M, Cooper M, Kotton D, Fabian AJ, Walkey C, Maser RS, Tonon G, Foerster F, Xiong R, Wang YA, Shukla SA, Jaskelioff M, Martin ES, Heffernan TP, Protopopov A, Ivanova E, Mahoney JE, Kost-Alimova M, Perry SR, Bronson R, Liao R, Mulligan R, Shirihai OS, Chin L, DePinho RA. Sahin E, et al. Nature. 2011 Feb 17;470(7334):359-65. doi: 10.1038/nature09787. Epub 2011 Feb 9. Nature. 2011. PMID: 21307849 Free PMC article.

8

Dyskeratosis congenita.

Bessler M, Wilson DB, Mason PJ. Bessler M, et al. FEBS Lett. 2010 Sep 10;584(17):3831-8. doi: 10.1016/j.febslet.2010.05.019. Epub 2010 May 21. FEBS Lett. 2010. PMID: 20493861 Free PMC article.

9

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.

Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ. Agarwal S, et al. Nature. 2010 Mar 11;464(7286):292-6. doi: 10.1038/nature08792. Epub 2010 Feb 17. Nature. 2010. PMID: 20164838 Free PMC article.

10

Short telomeres are sufficient to cause the degenerative defects associated with aging.

Armanios M, Alder JK, Parry EM, Karim B, Strong MA, Greider CW. Armanios M, et al. Am J Hum Genet. 2009 Dec;85(6):823-32. doi: 10.1016/j.ajhg.2009.10.028. Am J Hum Genet. 2009. PMID: 19944403 Free PMC article.

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