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Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Collopy LC, Walne AJ, Cardoso S, de la Fuente J, Mohamed M, Toriello H, Tamary H, Ling AJ, Lloyd T, Kassam R, Tummala H, Vulliamy TJ, Dokal I. Collopy LC, et al. Among authors: tummala h. Blood. 2015 Jul 9;126(2):176-84. doi: 10.1182/blood-2015-03-633388. Epub 2015 May 29. Blood. 2015. PMID: 26024875 Free PMC article.
Long tails, short telomeres: Dyskeratosis congenita.
Tummala H, Walne AJ. Tummala H, et al. Oncotarget. 2015 Jun 10;6(16):13856-7. doi: 10.18632/oncotarget.4388. Oncotarget. 2015. PMID: 26116823 Free PMC article. No abstract available.
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Tummala H, Collopy LC, Walne AJ, Ellison A, Cardoso S, Aksu T, Yarali N, Aslan D, Fikret Akata R, Teo J, Songyang Z, Pontikos N, Fitzgibbon J, Tomita K, Vulliamy T, Dokal I. Tummala H, et al. Blood. 2018 Sep 20;132(12):1349-1353. doi: 10.1182/blood-2018-03-837799. Epub 2018 Jul 31. Blood. 2018. PMID: 30064976 Free PMC article. No abstract available.
54 results