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.
Registries for study of nonmalignant hematological diseases: the example of the Severe Chronic Neutropenia International Registry.
Curr Opin Hematol
; 27(1): 18-26, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31764167
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.
Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.
Curr Opin Hematol
; 26(1): 16-21, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451720
7.
GM-CSF treatment is not effective in congenital neutropenia patients due to its inability to activate NAMPT signaling.
Ann Hematol
; 96(3): 345-353, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27966038
8.
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
9.
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
10.
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
11.
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
12.
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Nat Genet
; 39(1): 86-92, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17187068
13.
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Curr Opin Hematol
; 22(1): 3-11, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25427142
14.
Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry.
Haematologica
; 99(8): 1395-402, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24997149
15.
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
Nat Med
; 13(1): 38-45, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17195838
16.
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
17.
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia.
Nat Med
; 12(10): 1191-7, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17063141
18.
The European Guidelines on Diagnosis and Management of Neutropenia in Adults and Children: A Consensus Between the European Hematology Association and the EuNet-INNOCHRON COST Action.
Hemasphere
; 7(4): e872, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008163
19.
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.
EClinicalMedicine
; 65: 102260, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37855024
20.
A syndrome with congenital neutropenia and mutations in G6PC3.
N Engl J Med
; 360(1): 32-43, 2009 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19118303