Perforin A91V polymorphism and putative susceptibility to hematological malignancies [4]

Leukemia

Volumn 20, Issue 12, 2006, Pages 2178-

  Muralitharan, S ^a   Wali, Y ^a   Pathare, A V ^a  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; GENOMIC DNA; PERFORIN; VALINE;

ACUTE LYMPHOBLASTIC LEUKEMIA; AMINO ACID SUBSTITUTION; CANCER CLASSIFICATION; CANCER SUSCEPTIBILITY; CHILD; CHILDHOOD LEUKEMIA; DNA DETERMINATION; DNA POLYMORPHISM; DNA SEQUENCE; ETHNIC GROUP; FAMILIAL CANCER; FAMILY STUDY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NONHODGKIN LYMPHOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 33751238534     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404433     Document Type: Letter

References (8)

1. Mehta PA, Davis SM, Kumar A, Devidas M, Lee S, Zamzow T et al. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute Lymphoblastic leukemia: A report from the Children's Oncology Group. Leukemia 2006; 20: 1539-1541.
2. Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C et al. A single amino acid change, A91V, leads to conformational changes that can impair processing the active form of perforin. Blood 2005; 106: 932-937.
3. Santora A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Arico M. A single amino acid change A91V in perforin: A novel, frequent predisposing factor to childhood acute lymphoblastic leukemia? Hematologica 2005; 90: 697-698.
4. Clementi R, Locatelli F, Dupre L, Garaventa A, Emmi L, Bregni M et al. A proportion of patients with lymphoma may harbour mutations of the perforin gene. Blood 2005; 105: 4424-4428.
5. Busiello R, Fimiani G, Miano MG, Arico M, Santoro A, Ursini MV et al. A91V perforin variation in healthy subjects and FHLH patients. Int J Immunogenet 2006; 33: 123-125.
6. Al Lamki Z, Wali YA, Pathare A, Erickson KG, Henter JI. Clinical and genetic studies of familial hemophagocytic lymphohistiocytosis in Oman: need for early treatment. Pediatr Hematol Oncol 2003; 20: 603-609.
7. Muralitharan S, Al Lamki Z, Dennison D, Christie BS, Wali YS, Zachariach M et al. An inframe perforin gene deletion in familial hemophagocytic lymphohistiocytosis is associated with perforin expression. Am J Hematol 2005; 78: 59-63.
8. Murlitharan S, Romana M, Al Maamari S, Al Said B, Al Maamari A, Zachariach M et al. Familial haemophagocytic lymphohistiocytosis in the Sultanate of Oman: Two novel perforin gene variants. Blood 2002; 100 (Suppl b): 51b (Abstract 3669).