Detalhe da pesquisa
1.
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene.
Int J Mol Sci
; 25(4)2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396760
2.
Mesenchymal stem/stromal cells from a transplanted, asymptomatic patient with Fanconi anemia exhibit an aging-like phenotype and dysregulated expression of genes implicated in hematopoiesis and myelodysplasia.
Cytotherapy
; 25(4): 362-368, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481320
3.
Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1.
Int J Mol Sci
; 24(7)2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047537
4.
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.
J Cell Physiol
; 236(8): 5664-5675, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432587
5.
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Am J Hematol
; 96(9): 1077-1086, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34000087
6.
Characterization of C2C12 cells in simulated microgravity: Possible use for myoblast regeneration.
J Cell Physiol
; 235(4): 3508-3518, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549411
7.
Unusual Late-onset Enteropathy in a Patient With Lipopolysaccharide-responsive Beige-like Anchor Protein Deficiency.
J Pediatr Hematol Oncol
; 42(8): e768-e771, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31876783
8.
FAS-mediated apoptosis impairment in patients with ALPS/ALPS-like phenotype carrying variants on CASP10 gene.
Br J Haematol
; 187(4): 502-508, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309545
9.
Concentration-dependent metabolic effects of metformin in healthy and Fanconi anemia lymphoblast cells.
J Cell Physiol
; 233(2): 1736-1751, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681917
10.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Haematologica
; 103(3): 417-426, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269525
11.
Defects in mitochondrial energetic function compels Fanconi Anaemia cells to glycolytic metabolism.
Biochim Biophys Acta Mol Basis Dis
; 1863(6): 1214-1221, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28315453
12.
A new diagnosis of monoclonal B-cell lymphocytosis with cytoplasmic inclusions in a patient with COVID-19.
Am J Hematol
; 97(10): 1372-1373, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35472004
13.
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).
Am J Hematol
; 91(7): 666-71, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013026
14.
Unusual splice site mutations disrupt FANCA exon 8 definition.
Biochim Biophys Acta
; 1842(7): 1052-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24704046
15.
Inhibition of metalloproteinase activity in FANCA is linked to altered oxygen metabolism.
J Cell Physiol
; 230(3): 603-9, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25161103
16.
Impaired immune response to Candida albicans in cells from Fanconi anemia patients.
Cytokine
; 73(1): 203-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25769809
17.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Birth Defects Res A Clin Mol Teratol
; 103(12): 1003-10, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033879
18.
Altered lipid metabolism could drive the bone marrow failure in fanconi anaemia.
Br J Haematol
; 184(4): 693-696, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29528104
19.
p38 MAPK inhibition suppresses the TLR-hypersensitive phenotype in FANCC- and FANCA-deficient mononuclear phagocytes.
Blood
; 119(9): 1992-2002, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22234699
20.
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Haematologica
; 99(6): 1022-31, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24584348