FISIOLOGÍA Y FARMACOLOGÍA
Departamento
MARÍA ROCÍO
BENITO SÁNCHEZ
Investigadora en el periodo 2000-2023
Publicaciones en las que colabora con MARÍA ROCÍO BENITO SÁNCHEZ (23)
2023
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GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
Platelets, Vol. 34, Núm. 1
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Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation
International journal of molecular sciences, Vol. 24, Núm. 6
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Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Blood, Vol. 141, Núm. 4, pp. 406-421
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Platelet transcriptome analysis in patients with germline RUNX1 mutations
Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365
2022
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A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger
Cells, Vol. 11, Núm. 20
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A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling
Journal of Thrombosis and Haemostasis, Vol. 20, Núm. 5, pp. 1248-1255
2021
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ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction
Platelets, Vol. 32, Núm. 4, pp. 573-577
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A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis
American Journal of Hematology
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Biological significance of monoallelic and biallelic BIRC3 loss in del(11q) chronic lymphocytic leukemia progression
Blood Cancer Journal, Vol. 11, Núm. 7
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Characterization of the platelet phenotype caused by a germline RUNX1 Variant in a CRISPR/Cas9-generated murine model
Thrombosis and Haemostasis, Vol. 121, Núm. 9, pp. 1193-1205
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Expanding the genetic spectrum of TUBB1-related thrombocytopenia
Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467
2020
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CRISPR/Cas9-generated models uncover therapeutic vulnerabilities of del(11q) CLL cells to dual BCR and PARP inhibition
Leukemia, Vol. 34, Núm. 6, pp. 1599-1612
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ETV6/RUNX1 Fusion Gene Abrogation Decreases the Oncogenicity of Tumour Cells in a Preclinical Model of Acute Lymphoblastic Leukaemia
Cells, Vol. 9, Núm. 1
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Transcriptomic analysis of patients with immune thrombocytopenia treated with eltrombopag
Platelets, Vol. 31, Núm. 8, pp. 993-1000
2019
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Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Annals of Medicine, Vol. 51, Núm. 2, pp. 141-148
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Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders
Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707
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Sitosterolemia: Diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management
Current Medicinal Chemistry, Vol. 26, Núm. 37, pp. 6766-6775
2018
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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
Haematologica, Vol. 103, Núm. 1, pp. 148-162
2017
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Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes
Thrombosis and Haemostasis, Vol. 117, Núm. 1, pp. 66-74
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The CRISPR/Cas9 system efficiently reverts the tumorigenic ability of BCR/ABL in vitro and in a xenograft model of chronic myeloid leukemia
Oncotarget, Vol. 8, Núm. 16, pp. 26027-26040