Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
作者： David C. Dale , Richard E. Person , Audrey Anna Bolyard , Andrew G. Aprikyan , Cindy Bos
关键词:
摘要: … map the locus for autosomal dominant cyclic neutropenia to chromosome 19p13.3, the locus … The genomic DNA mutations are depicted in green, the resulting cDNA aberration in red. …
ashpublications.org
eurekamag.com参考文章(29)
Yigal Dror, Melvin H. Freedman, Shwachman-Diamond Syndrome: An Inherited Preleukemic Bone Marrow Failure Disorder With Aberrant Hematopoietic Progenitors and Faulty Marrow Microenvironment Blood. ,vol. 94, pp. 3048- 3054 ,(1999) , 10.1182/BLOOD.V94.9.3048
MC Mackey, Unified hypothesis for the origin of aplastic anemia and periodic hematopoiesis Blood. ,vol. 51, pp. 941- 956 ,(1978) , 10.1182/BLOOD.V51.5.941.941
David C Dale, Mary Ann Bonilla, Mark W Davis, Arline M Nakanishi, William P Hammond, Joanne Kurtzberg, Winfred Wang, Ann Jakubowski, Elliott Winton, Parviz Lalezari, None, A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia Blood. ,vol. 81, pp. 2496- 2502 ,(1993) , 10.1182/BLOOD.V81.10.2496.2496
L A Boxer, K Welte, Severe chronic neutropenia: pathophysiology and therapy. Seminars in Hematology. ,vol. 34, pp. 267- 278 ,(1997)
Neil D. Rawlings, Alan J. Barrett, J. F. Woessner, Handbook of proteolytic enzymes Elsevier Academic Press. ,(1998)
Niels Borregaard, Jack B. Cowland, Granules of the Human Neutrophilic Polymorphonuclear Leukocyte Blood. ,vol. 89, pp. 3503- 3521 ,(1997) , 10.1182/BLOOD.V89.10.3503
Marshall Horwitz, Kathleen F. Benson, Richard E. Person, Andrew G. Aprikyan, David C. Dale, Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis Nature Genetics. ,vol. 23, pp. 433- 436 ,(1999) , 10.1038/70544
Frances C. Bernstein, Thomas F. Koetzle, Graheme J.B. Williams, Edgar F. Meyer, Michael D. Brice, John R. Rodgers, Olga Kennard, Takehiko Shimanouchi, Mitsuo Tasumi, The Protein Data Bank: a computer-based archival file for macromolecular structures. Journal of Molecular Biology. ,vol. 112, pp. 535- 542 ,(1977) , 10.1016/S0022-2836(77)80200-3
Nicola Tidow, Christina Pilz, Brigitte Kasper, Karl Welte, Frequency of point mutations in the gene for the G‐CSF receptor in patients with chronic neutropenia undergoing G‐CSF therapy Stem Cells. ,vol. 15, pp. 113- 120 ,(1997) , 10.1002/STEM.5530150815
Abderrazzaq Belaaouaj, Ronald McCarthy, Mary Baumann, Zhimin Gao, Timothy J. Ley, Soman N. Abraham, Steven D. Shapiro, Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis. Nature Medicine. ,vol. 4, pp. 615- 618 ,(1998) , 10.1038/NM0598-615