Investigaciones – Asociación Activa'TT por la salud

Identificación de las bases genéticas de la trombosis.

Trombosis en pacientes oncológicos

Identificación de las bases genéticas de las varices

Influence of ABO Locus on PFA-100 Collagen-ADP Closure Time Is Not Totally Dependiente on the Von Willebrand Factor. Resultados of en GWAS on GAIT-2 Project Phenotypes. Pujol-Moix N, Martinez-Perez A, Sabater-Lleal M, Llobet D, Vilalta N, Hamsten A, Souto JC, Soria JM. International Journal of Molecular Sciences. 2019 junio 30; 20 (13).

A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. Paul de Vries PS, Sabater-Lleal M, Huffman JE, Marten J, Song C, Pankratz N, Bartz TM, de Haan HG, Delgado GE, Eicher JD, Martinez-Perez A, Ward-Caviness CK, Brody JA, Chen MH, de Maat MPM, Frånberg M, Gill D, Kleber ME, Rivadeneira F, Sòria JM, Tang W, Tofler GH, Uitterlinden AG, van Hylckama Vlieg A, Seshadri S, Boerwinkle I, Davies NM, Giese AK, Ikram MK, Kittner SJ, McKnight B, Psaty BM, Reiner AP, Sargurupremraj M, Taylor KD, Fornage M, Hamsten A, März W, Rosendaal FR, Souto JC, Dehghan A, Johnson AD, Morrison AC, O’Donnell CJ, Smith NL. Blood. 2019 Jan 14

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. Sabater-Lleal, M., Huffman, J. E., de Vries, P. S., Marten, J., Mastrangelo, M. A., Song, C., Pankratz, N., Ward-Caviness, C. K., Yanek, L. R., Trompet, S., Delgado, G. E., Guo, X., Bartz, T. M., Martinez-Perez, A., Germain, M., de Haan, H. G., Ozel, A. B., Polasek, O., Smith, A. V., Eicher, J. D., … Smith, N. L. (2019). Circulation, 139(5), 620–635.

Enhanced endoplasmic reticulum and mitochondrial stress in abdominal Aortic Aneurysm. Navas-Madroñal, M., Rodriguez, C., Kassan, M., Fité, J., Escudero, J. R., Cañes, L., Martínez-González, J., Camacho, M., & Galán, M. Clinical science (London, England : 1979), 133(13), 1421–1438.

Short Closure Time Values in PFA-100® are Related to Venous Thrombotic Risk. Results from the RETROVE Study. Vázquez-Santiago, M., Vilalta, N., Cuevas, B., Murillo, J., Llobet, D., Macho, R., Pujol-Moix, N., Carrasco, M., Mateo, J., Fontcuberta, J., Soria, J. M., & Souto, J. C. Thrombosis research, 169, 57–63.

Multivariable clinical-genetic risk model for predicting venous thromboembolic events in patients with cancer. Muñoz Martín, A. J., Ortega, I., Font, C., Pachón, V., Castellón, V., Martínez-Marín, V., Salgado, M., Martínez, E., Calzas, J., Rupérez, A., Souto, J. C., Martín, M., Salas, E., & Soria, J. M. British journal of cancer, 118(8), 1056–1061

Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels es an intermediate Phenotype of Thrombosis. Martin-Fernandez L, Gavidia-Bovadilla G, Corrals I, Brunel H, Ramírez L, López S, Souto JC, Vidal F, Sòria JM. PloS one, 12(4), e0176301.

Genome-wide association study with additional genetic and post transcriptional analyses reveals novell regulators of plasma factor XI levels. Sennblad, B., Basu, S., Mazur, J., Suchon, P., Martinez-Perez, A., van Hylckama Vlieg, A., Truong, V., Li, Y., Gådin, J. R., Tang, W., Grossman, V., de Haan, H. G., Handin, N., Silveira, A., Souto, J. C., Franco-Cereceda, A., Morange, P. E., Gagnon, F., Soria, J. M., Eriksson, P., … Sabater-Lleal, M. (2017). Human molecular genetics, 26(3), 637–649.

Circulating CCL20 es a New Biomarker of Abdominal Aortic Aneurysm. Soto, B., Gallastegi-Mozos, T., Rodríguez, C., Martínez-González, J., Escudero, J. R., Vila, L., & Camacho, M. (2017). Scientific reports, 7(1), 17331.

The Central Role of KNG1 Gene es a Genetic Determinant of Coagulation Pathway-Related Traits: una exploració Metaphenotypes. Brunel, H., Massanet, R., Martinez-Perez, A., Ziyatdinov, A., Martin-Fernandez, L., Souto, J. C., Perera, A., & Soria, J. M. (2016). Exploring Metaphenotypes. PloS one, 11(12), e0167187.

The unravelling of the Genetic Architecture of plasminogen Deficiency and its Relation to Thrombotic Disease. Martin-Fernandez, L., Marco, P., Corrales, I., Pérez, R., Ramírez, L., López, S., Vidal, F., & Soria, J. M. (2016). Scientific reports, 6, 39255.

Platelet-Derived Growth Factor Beta polypeptide (PDGFB), a new candidate plasma Biomarker for venous thromboembolism: results from the VEREMA affinity Proteomics study. Bruzelius, M., Iglesias, M. J., Hong, M. G., Sanchez-Rivera, L., Gyorgy, B., Souto, J. C., Frånberg, M., Fredolini, C., Strawbridge, R. J., Holmström, M., Hamsten, A., Uhlén, M., Silveira, A., Soria, J. M., Smadja, D. M., Butler, L. M., Schwenk, J. M., Morange, P. E., Trégouët, D. A., & Odeberg, J. (2016). Blood, 128(23), e59–e66.

Genome-wide association analysis of self-reported events in 6,135 individuals and 252,827 controls identifies 8 loci associated with Thrombosis. Hinds, D. A., Buil, A., Ziemek, D., Martinez-Perez, A., Malik, R., Folkersen, L., Germain, M., Mälarstig, A., Brown, A., Soria, J. M., Dichgans, M., Bing, N., Franco-Cereceda, A., Souto, J. C., Dermitzakis, E. T., Hamsten, A., Worrall, B. B., Tung, J. Y., METASTROKE Consortium, INVENT Consortium, & Sabater-Lleal, M. (2016). Human molecular genetics, 25(9), 1867–1874.

Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project. Martin-Fernandez, L., Ziyatdinov, A., Carrasco, M., Millon, J. A., Martinez-Perez, A., Vilalta, N., Brunel, H., Font, M., Hamsten, A., Souto, J. C., & Soria, J. M. (2016). PloS one, 11(1), e0146922.

The genetics of Thrombosis in cancer (Spanish). Soria, J. M., & López, S. (2015). Medicina clinica, 144 Suppl 1, 26–30.

Platelet count and plateletcrit are associated with an Increased risk of venous Thrombosis in Females. Results from the RETROVE study. Vázquez-Santiago, M., Vilalta, N., Ziyatdinov, A., Cuevas, B., Macho, R., Pujol-Moix, N., Carrasco, M., Mateo, J., Fontcuberta, J., Soria, J. M., & Souto, J. C. (2017). Thrombosis research, 157, 162–164.

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