Absence of pathogenic mutations of the human telomerase RNA gene (hTERC) in patients with chronic myeloproliferative disorders [8]

Leukemia

Volumn 20, Issue 5, 2006, Pages 893-894

  Danzy, S ^a   Su, C Y ^a   Park, S ^a   Li, S Y ^a   Ferraris, A M ^b   Ly, H ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE; GUANINE NUCLEOTIDE; JANUS KINASE 2; RNA; TELOMERASE;

CLONAL VARIATION; CONTROLLED STUDY; DNA FLANKING REGION; FANCONI ANEMIA; GENE MUTATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC CORRELATION; GRANULOPOIESIS; HUMAN; HUMAN CELL; LETTER; MAJOR CLINICAL STUDY; MYELODYSPLASIA; MYELOPROLIFERATIVE DISORDER; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; TELOMERE; X CHROMOSOME INACTIVATION;

EID: 33646132760     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404159     Document Type: Letter

References (8)

1. Ferraris AM, Pujic N, Mangerini R, Rapezzi D, Gallamini A, Racchi O et al. Clonal granulocytes in polycythaemia vera and essential thrombocythaemia have shortened telomeres. Br J Haematol 2005; 130: 391-393.
2. Ly H, Calado RT, Allard P, Baerlocher GM, Lansdorp PM, Young NS et al. Functional characterization of telomerase RNA variants found in patients with hematological disorders. Blood 2005; 105: 2332-2339.
3. Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003; 102: 916-918.
4. Calado RT, Pintao MC, Rocha V, Falcao RP, Bitencourt MA, Silva Jr WA et al. Lack of mutations in the human telomerase RNA component (hTERC) gene in Fanconi's anemia. Haematologica 2004;89:1012-1013.
5. Wilson DB, Ivanovich J, Whelan A, Goodfellow PJ, Bessler M. Human telomerase RNA mutations and bone marrow failure. Lancet 2003; 361: 1993-1994.
6. Ly H, Blackburn EH, Parslow TG. Comprehensive structure-function analysis of the core domain of human telomerase RNA. Mol Cell Biol 2003; 23: 6849-6856.
7. Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. Blood 2004; 104: 3936-3942.
8. Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT et al. Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: A prospective study. Lancet 2005; 366: 1945-1953.