Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
暂无分享,去创建一个
D C Linch | R E Gale | D. Linch | R. Liesner | P. Ancliff | R. Gale | I. Hann | I M Hann | R Liesner | P J Ancliff | P. Ancliff | I. Hann
[1] P G Mori,et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. , 2000, Blood.
[2] K. Stephens,et al. Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. , 1996, American journal of medical genetics.
[3] David C. Dale,et al. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis , 1999, Nature Genetics.
[4] Rolf Kostmann,et al. INFANTILE GENETIC AGRANULOCYTOSIS , 1975 .
[5] G. Klackenberg. Studies in Maternal Deprivation in Infants' Homes , 1956, Acta paediatrica.
[6] R. Stockley,et al. New approaches to the management of COPD. , 2000, Chest.
[7] Feng-Qian Li,et al. Characterization of Mutant Neutrophil Elastase in Severe Congenital Neutropenia* , 2001, The Journal of Biological Chemistry.
[8] Ronald McCarthy,et al. Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis , 1998, Nature Medicine.
[9] C Bos,et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. , 2000, Blood.
[10] U. Gullberg,et al. Processing and targeting of granule proteins in human neutrophils. , 1999, Journal of immunological methods.
[11] D. Linch,et al. Quantification of X-chromosome inactivation patterns in haematological samples using the DNA PCR-based HUMARA assay. , 1996, Leukemia.
[12] C. Harrison,et al. A large proportion of patients with a diagnosis of essential thrombocythemia do not have a clonal disorder and may be at lower risk of thrombotic complications. , 1999, Blood.
[13] E. Chi,et al. Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. , 2001, Blood.
[14] J. Roes,et al. Impaired immunity and enhanced resistance to endotoxin in the absence of neutrophil elastase and cathepsin G. , 2000, Immunity.
[15] T. Rado,et al. A 30-base pair element is responsible for the myeloid-specific activity of the human neutrophil elastase promoter. , 1994, The Journal of biological chemistry.