Associated Papers
Identification of GFI1 mutations in adult patients with congenital neutropenia.
Boutakoglou E et al.
Annals of Hematology, 2022
Mouse models of neutropenia reveal progenitor-stage-specific defects.
Muench DE et al.
Nature, 2020
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
Venugopal P et al.
Bmc Medical Genetics, 2020
From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.
Möröy T et al.
Blood, 2015
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.
Hauck F et al.
Current Opinion in Allergy and Clinical Immunology, 2013
GFI1B mutation causes a bleeding disorder with abnormal platelet function.
Stevenson WS et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.
Horwitz MS et al.
Hematology/oncology Clinics of North America, 2013
Recent advances in the understanding of genetic defects of neutrophil number and function.
Bouma G et al.
British Journal of Haematology, 2010
Cyclic neutropenia associated with T cell immunity to granulocyte proteases and a double de novo mutation in GFI1, a transcriptional regulator of ELANE.
Armistead PM et al.
British Journal of Haematology, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.
Xia J et al.
British Journal of Haematology, 2009
Genetic and molecular diagnosis of severe congenital neutropenia.
Ward AC et al.
Current Opinion in Hematology, 2009
Mutations in growth factor independent-1 associated with human neutropenia block murine granulopoiesis through colony stimulating factor-1.
Zarebski A et al.
Immunity, 2008
Neutrophil elastase in cyclic and severe congenital neutropenia.
Horwitz MS et al.
Blood, 2007
Increased CCAAT enhancer-binding protein epsilon (C/EBPepsilon) expression and premature apoptosis in myeloid cells expressing Gfi-1 N382S mutant associated with severe congenital neutropenia.
Zhuang D et al.
The Journal of Biological Chemistry, 2006
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Person RE et al.
Nature Genetics, 2003
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