Susana Navarro
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Explore the profile of Susana Navarro including associated specialties, affiliations and a list of published articles.
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38
Citations
986
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Recent Articles
1.
Navarro S, Rio P
Cell Stem Cell
. 2025 Jan;
32(1):4-6.
PMID: 39753111
Diamond-Blackfan anemia syndrome is a ribosomopathy classified among the bone marrow failure syndromes. This disease exhibits significant heterogeneity, with up to 24 genetic variants identified to date. Voit et al....
2.
Rio P, Zubicaray J, Navarro S, Galvez E, Sanchez-Dominguez R, Nicoletti E, et al.
Lancet
. 2024 Dec;
404(10471):2584-2592.
PMID: 39642902
Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer...
3.
Ramirez M, Pujol R, Minguillon J, Bogliolo M, Persico I, Cavero D, et al.
Am J Hematol
. 2024 Nov;
100(2):272-284.
PMID: 39562502
Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, and extreme chromosome fragility. To better understand the natural history of FA, identify genetic risk...
4.
Gimenez Y, Palacios M, Sanchez-Dominguez R, Zorbas C, Peral J, Puzik A, et al.
JCI Insight
. 2024 May;
9(10).
PMID: 38775150
This study lays the groundwork for future lentivirus-mediated gene therapy in patients with Diamond Blackfan anemia (DBA) caused by mutations in ribosomal protein S19 (RPS19), showing evidence of a new...
5.
Lasaga M, Rio P, Vilas-Zornoza A, Planell N, Navarro S, Alignani D, et al.
Haematologica
. 2023 Apr;
108(10):2652-2663.
PMID: 37021532
Clinical trials have shown that lentiviral-mediated gene therapy can ameliorate bone marrow failure (BMF) in nonconditioned Fanconi anemia (FA) patients resulting from the proliferative advantage of corrected FA hematopoietic stem...
6.
Casado J, Valeri A, Sanchez-Dominguez R, Vela P, Lopez A, Navarro S, et al.
J Clin Invest
. 2022 Jun;
132(15).
PMID: 35671096
Fanconi anemia (FA) is the most prevalent inherited bone marrow failure (BMF) syndrome. Nevertheless, the pathophysiological mechanisms of BMF in FA have not been fully elucidated. Since FA cells are...
7.
Navarro S, Quintana-Bustamante O, Sanchez-Dominguez R, Lopez-Manzaneda S, Ojeda-Perez I, Garcia-Torralba A, et al.
Mol Ther Methods Clin Dev
. 2021 Sep;
22:350-359.
PMID: 34514027
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder caused by mutations in the gene. PKD is characterized by non-spherocytic hemolytic anemia of variable severity and may be fatal...
8.
Sevilla J, Navarro S, Rio P, Sanchez-Dominguez R, Zubicaray J, Galvez E, et al.
Mol Ther Methods Clin Dev
. 2021 Sep;
22:66-75.
PMID: 34485595
Difficulties in the collection of hematopoietic stem and progenitor cells (HSPCs) from Fanconi anemia (FA) patients have limited the gene therapy in this disease. We have investigated (ClinicalTrials.gov, NCT02931071) the...
9.
Ramirez M, Pujol R, Trujillo-Quintero J, Minguillon J, Bogliolo M, Rio P, et al.
Am J Hematol
. 2021 May;
96(8):989-999.
PMID: 33984160
Fanconi anemia (FA) is characterized by chromosome fragility, bone marrow failure (BMF) and predisposition to cancer. As reverse genetic mosaicism has been described as "natural gene therapy" in patients with...
10.
Galvez E, Vallespin E, Arias-Salgado E, Sanchez-Valdepenas C, Gimenez Y, Navarro S, et al.
Hemasphere
. 2021 Mar;
5(4):e539.
PMID: 33718801
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and...