The evolution of cellular deficiency in GATA2 mutation.
Dickinson, Rachel E; Milne, Paul; Jardine, Laura; Zandi, Sasan; Swierczek, Sabina I; McGovern, Naomi; Cookson, Sharon; Ferozepurwalla, Zaveyna; Langridge, Alexander; Pagan, Sarah; Gennery, Andrew; Heiskanen-Kosma, Tarja; Hämäläinen, Sari; Seppänen, Mikko; Helbert, Matthew; Tholouli, Eleni; Gambineri, Eleonora; Reykdal, Sigrún; Gottfreðsson, Magnús; Thaventhiran, James E; Morris, Emma; Hirschfield, Gideon; Richter, Alex G; Jolles, Stephen; Bacon, Chris M; Hambleton, Sophie; Haniffa, Muzlifah; Bryceson, Yenan; Allen, Carl; Prchal, Josef T; Dick, John E; Bigley, Venetia; Collin, Matthew.
; 123(6): 863-74, 2014 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-24345756
Gain-of-function mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Impaired cytotoxicity associated with defective natural killer cell differentiation in myelodysplastic syndromes.
Natural killer expansion, human leukocyte antigens-E expression and CD14(+) CD56(+) monocytes in a myelodysplastic syndrome patient.
MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance.
Feedback signals in myelodysplastic syndromes: increased self-renewal of the malignant clone suppresses normal hematopoiesis.
Age-related changes in natural killer cell repertoires: impact on NK cell function and immune surveillance.
Regulation of ligands for the NKG2D activating receptor.
TP53 overexpression is an independent adverse prognostic factor in de novo myelodysplastic syndromes with fibrosis.
MDS with isolated del(5q) and internuclear bridging.
Profile of fibrosis-related gene transcripts and megakaryocytic changes in the bone marrow of myelodysplastic syndromes with fibrosis.