Deletions of Xp22.2 including PIG-A locus lead to paroxysmal nocturnal hemoglobinuria

Leukemia

Volumn 25, Issue 2, 2011, Pages 379-382

  O'Keefe, C L ^a   Sugimori, C ^b   Afable, M ^a   Clemente, M ^a   Shain, K ^b   Araten, D J ^c   List, A ^b   Epling Burnette, P K ^b   MacIejewski, J P ^a,c  

^a TAUSSIG CANCER INSTITUTE   (United States)

^b H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ECULIZUMAB;

CHROMOSOME ABERRATION; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; KARYOTYPE; LETTER; PAROXYSMAL NOCTURNAL HEMOGLOBINURIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79751533094     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2010.274     Document Type: Letter

References (8)

1. Boccuni P, Del Vecchio L, Di Noto R, Rotoli B. Glycosyl phosphatidylinositol (GPI)-anchored molecules and the pathogenesis of paroxysmal nocturnal hemoglobinuria. Crit Rev Oncol Hematol 2000; 33: 25-43. (Pubitemid 30064483)
2. Chen G, Kirby M, Zeng W, Young NS, Maciejewski JP. Superior growth of glycophosphatidy linositol-anchored protein-deficient progenitor cells in vitro is due to the higher apoptotic rate of progenitors with normal phenotype in vivo. Exp Hematol 2002; 30: 774-782. (Pubitemid 34831699)
3. Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 1993; 73: 703-711. (Pubitemid 23159009)
4. Maciejewski JP, Mufti GJ. Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood 2008; 112: 965-974.
5. Gondek LP, Tiu R, Haddad AS, O'Keefe CL, Sekeres MA, Theil KS et al. Single nucleotide polymorphism arrays complement metaphase cytogenetics in detection of new chromosomal lesions in MDS. Leukemia 2007; 21: 2058-2061. (Pubitemid 47299988)
6. Bessler M, Mason P, Hillmen P, Luzzatto L. Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. Lancet 1994; 343: 951-953. (Pubitemid 24117232)
7. Endo M, Ware RE, Vreeke TM, Singh SP, Howard TA, Tomita A et al. Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria. Blood 1996; 87: 2546-2557. (Pubitemid 26086901)
8. Young NS, Maciejewski JP. Genetic and environmental effects in paroxysmal nocturnal hemoglobinuria: this little PIG-A goes 'Why? Why? Why?'. J Clin Invest 2000; 106: 637-641.