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Page 1
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.
Marín-Quílez A, Vuelta E, Díaz-Ajenjo L, Fernández-Infante C, García-Tuñón I, Benito R, Palma-Barqueros V, Hernández-Rivas JM, González-Porras JR, Rivera J, Bastida JM. Marín-Quílez A, et al. Among authors: fernandez infante c. J Thromb Haemost. 2022 May;20(5):1248-1255. doi: 10.1111/jth.15672. Epub 2022 Feb 28. J Thromb Haemost. 2022. PMID: 35170221 Free PMC article.
Characterization of the Platelet Phenotype Caused by a Germline RUNX1 Variant in a CRISPR/Cas9-Generated Murine Model.
Marín-Quílez A, García-Tuñón I, Fernández-Infante C, Hernández-Cano L, Palma-Barqueros V, Vuelta E, Sánchez-Martín M, González-Porras JR, Guerrero C, Benito R, Rivera J, Hernández-Rivas JM, Bastida JM. Marín-Quílez A, et al. Among authors: fernandez infante c. Thromb Haemost. 2021 Sep;121(9):1193-1205. doi: 10.1055/s-0041-1723987. Epub 2021 Feb 18. Thromb Haemost. 2021. PMID: 33626581
C3G contributes to platelet activation and aggregation by regulating major signaling pathways.
Gutiérrez-Herrero S, Fernández-Infante C, Hernández-Cano L, Ortiz-Rivero S, Guijas C, Martín-Granado V, González-Porras JR, Balsinde J, Porras A, Guerrero C. Gutiérrez-Herrero S, et al. Among authors: fernandez infante c. Signal Transduct Target Ther. 2020 Apr 1;5(1):29. doi: 10.1038/s41392-020-0119-9. Signal Transduct Target Ther. 2020. PMID: 32296045 Free PMC article.
C3G, through its GEF activity, induces megakaryocytic differentiation and proplatelet formation.
Ortiz-Rivero S, Baquero C, Hernández-Cano L, Roldán-Etcheverry JJ, Gutiérrez-Herrero S, Fernández-Infante C, Martín-Granado V, Anguita E, de Pereda JM, Porras A, Guerrero C. Ortiz-Rivero S, et al. Among authors: fernandez infante c. Cell Commun Signal. 2018 Dec 19;16(1):101. doi: 10.1186/s12964-018-0311-5. Cell Commun Signal. 2018. PMID: 30567575 Free PMC article.
Combined HRAS and NRAS ablation induces a RASopathy phenotype in mice.
Fuentes-Mateos R, García-Navas R, Fernández-Infante C, Hernández-Cano L, Calzada-Nieto N, Juan AO, Guerrero C, Santos E, Fernández-Medarde A. Fuentes-Mateos R, et al. Among authors: fernandez infante c. Cell Commun Signal. 2024 Jun 17;22(1):332. doi: 10.1186/s12964-024-01717-4. Cell Commun Signal. 2024. PMID: 38886790 Free PMC article.
Platelet C3G: a key player in vesicle exocytosis, spreading and clot retraction.
Fernández-Infante C, Hernández-Cano L, Herranz Ó, Berrocal P, Sicilia-Navarro C, González-Porras JR, Bastida JM, Porras A, Guerrero C. Fernández-Infante C, et al. Cell Mol Life Sci. 2024 Feb 12;81(1):84. doi: 10.1007/s00018-023-05109-8. Cell Mol Life Sci. 2024. PMID: 38345631 Free PMC article.
New functions of C3G in platelet biology: Contribution to ischemia-induced angiogenesis, tumor metastasis and TPO clearance.
Hernández-Cano L, Fernández-Infante C, Herranz Ó, Berrocal P, Lozano FS, Sánchez-Martín MA, Porras A, Guerrero C. Hernández-Cano L, et al. Among authors: fernandez infante c. Front Cell Dev Biol. 2022 Oct 31;10:1026287. doi: 10.3389/fcell.2022.1026287. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36393850 Free PMC article.