Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

This publication has 33 references indexed in Scilit:

• Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
  Nature Genetics, 2004
• Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
  The Lancet, 2003
• Comprehensive Structure-Function Analysis of the Core Domain of Human Telomerase RNA
  Molecular and Cellular Biology, 2003
• Extensive allelic variation and ultrashort telomeres in senescent human cells
  Nature Genetics, 2003
• Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification
  Science, 2003
• Association between aplastic anaemia and mutations in telomerase RNA
  The Lancet, 2002
• Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita
  Blood Cells, Molecules, and Diseases, 2001
• Dyskeratosis and ribosomal rebellion
  Nature Genetics, 1998
• X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
  Nature Genetics, 1998
• Telomerase Catalytic Subunit Homologs from Fission Yeast and Human
  Science, 1997