| 1 | GFI1, SGD
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| Growth factor independence-1 (Gfi-1) plays a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inactivating mutation in the C/EBPepsilon gene.
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| Khanna-Gupta A, Sun H, Zibello T, Lee HM, Dahl R, Boxer LA, Berliner N.
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| Blood 109(10):4181-90. Epub 2007 Jan 23.
2007
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| 2 | CEBPE, RB1, SGD
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| C/EBPepsilon interacts with retinoblastoma and E2F1 during granulopoiesis.
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| Gery S, Gombart AF, Fung YK, Koeffler HP.
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| Blood 103(3):828-35. Epub 2003 Aug 28. 2004
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| 3 | CEBPE, SGD
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| Regulation of neutrophil and eosinophil secondary granule gene expression by transcription factors C/EBP epsilon and PU.1.
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| Gombart AF, Kwok SH, Anderson KL, Yamaguchi Y, Torbett BE, Koeffler HP.
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| Blood 101(8):3265-73. Epub 2002 Dec 19. 2003
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| 4 | SGD
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| Neutrophil-specific granule deficiency: homozygous recessive inheritance of a frameshift mutation in the gene encoding transcription factor CCAAT/enhancer binding protein--epsilon.
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| Gombart AF, Shiohara M, Kwok SH, Agematsu K, Komiyama A, Koeffler HP.
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| Blood 97(9):2561-7. 2001
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| 5 | CEBPE, SGD
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| Neutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilon.
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| Lekstrom-Himes JA, Dorman SE, Kopar P, Holland SM, Gallin JI.
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| J Exp Med 189(11):1847-52. 1999
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| 6 | CEBPE, SGD
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| Lactoferrin deficiency as a consequence of a lack of specific granules in neutrophils from a patient with recurrent infections. Detection by immunoperoxidase staining for lactoferrin and cytochemical electron microscopy.
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| Breton-Gorius J, Mason DY, Buriot D, Vilde JL, Griscelli C.
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| Am J Pathol 99(2):413-28. 1980
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