Telomere Biology/Genetics Publications

Telomere Genetics

• Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008 Feb;82(2):501-9.
• Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Review.
• Savage SA, Chanock SJ, Lissowska J, Brinton LA, Richesson D, Peplonska B, Bardin-Mikolajczak A, Zatonski W, Szeszenia-Dabrowska N, Garcia-Closas M. Genetic variation in five genes important in telomere biology and risk for breast cancer. Br J Cancer 2007 Sep 17;97(6):832-6.
• Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2006 Sep-Oct;37(2):134-6.
• Savage SA, Calado RT, Xin ZT, Ly H, Young NS, Chanock SJ. Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol 2006 May;34(5):664-71.
• Savage SA, Stewart BJ, Eckert A, Kiley M, Liao JS, Chanock SJ. Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint. Hum Mutat 2005 Oct;26(4):343-50.
• Savage SA, Stewart BJ, Liao JS, Helman LJ, Chanock SJ. Telomere stability genes are not mutated in osteosarcoma cell lines. Cancer Genet Cytogenet 2005 Jul 1;160(1):79-81.

Telomere Length

• Mirabello L, Huang WY, Wong JY, Chatterjee N, Reding D, David Crawford E, De Vivo I, Hayes RB, Savage SA. The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancer. Aging Cell 2009 Jun 1.
• Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Review.
• Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007 Sep 1;110(5):1439-47.