Detalhe da pesquisa
1.
CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia.
Mol Ther
; 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556793
2.
HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).
Br J Haematol
; 202(2): 393-411, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37193639
3.
Differential transcriptional control of hematopoiesis in congenital and cyclic neutropenia patients harboring ELANE mutations.
Haematologica
; 2023 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855057
4.
LMO2 activation by deacetylation is indispensable for hematopoiesis and T-ALL leukemogenesis.
Blood
; 134(14): 1159-1175, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31366618
5.
CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.
Haematologica
; 105(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31248972
6.
Cooperating, congenital neutropenia-associated Csf3r and Runx1 mutations activate pro-inflammatory signaling and inhibit myeloid differentiation of mouse HSPCs.
Ann Hematol
; 99(10): 2329-2338, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32821971
7.
Old drug revisited: disulfiram, NETs, and sepsis.
Blood
; 138(25): 2604-2605, 2021 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34940816
8.
Identification of GFI1 mutations in adult patients with congenital neutropenia.
Ann Hematol
; 101(12): 2771-2773, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112213
9.
Chronic neutropenic colitis with complete colonic obstruction in a patient with severe congenital neutropenia associated with G6PC3 mutations.
Ann Hematol
; 101(7): 1583-1585, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35084551
10.
ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.
Br J Haematol
; 172(2): 219-27, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26567890
11.
A lack of secretory leukocyte protease inhibitor (SLPI) causes defects in granulocytic differentiation.
Blood
; 123(8): 1239-49, 2014 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24352879
12.
Bortezomib inhibits STAT5-dependent degradation of LEF-1, inducing granulocytic differentiation in congenital neutropenia CD34(+) cells.
Blood
; 123(16): 2550-61, 2014 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24394665
13.
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Blood
; 123(14): 2229-37, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24523240
14.
Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML.
Blood
; 127(21): 2638-41, 2016 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030388
15.
GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations.
Blood
; 126(15): 1865-7, 2015 Oct 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26324699
16.
Regenerative medicine meets translational oncology: Modeling leukemic bone marrow niche.
Cell Rep Med
; 3(8): 100724, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977470
17.
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.
Cell Stem Cell
; 28(5): 906-922.e6, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33894142
18.
Gene Knockout in Hematopoietic Stem and Progenitor Cells Followed by Granulocytic Differentiation.
Methods Mol Biol
; 2115: 455-469, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006417
19.
New insights into the pathomechanism of cyclic neutropenia.
Ann N Y Acad Sci
; 1466(1): 83-92, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083314
20.
Ultra-Sensitive CSF3R Deep Sequencing in Patients With Severe Congenital Neutropenia.
Front Immunol
; 10: 116, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30891028