Principales líneas de investigación en la que participa ACTIVA’TT:
•
Identificación de las Bases Genéticas de la Trombosis.
— Proyecto GAIT (Análisis Genético de la Trombosis Inexplicada)
— Proyecto RETROVE (Riesgo de Trombosis Venosa)
•
Trombosis en pacientes Oncológicos
— Proyecto MIRTO (Modelización del Riesgo de Trombosis en pacientes
Oncológicos)
— Proyecto ONCOTHROMB
(Oncología y Trombosis)
•
Identificación de las Bases Genéticas de las Varices
— Proyecto GAV (Análisis Genético de las Varices)
•
Identificación de las Bases Genéticas de los Aneurismas Abdominales de la Aorta
— Proyecto TAGA (TripleA Genetic Analysis)
Publicaciones científicas como resultados de los Proyectos:
Influence of
ABO
Locus on PFA-100 Collagen-ADP Closure Time Is Not
Totally Dependent on the Von Willebrand Factor. Results of a 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 Jun 30;20(13).
Link:
https://www.ncbi.nlm.nih.gov/pubmed/31262040
A genome-wide association study identifies new loci for factor VII and
implicates factor VII in ischemic stroke etiology.
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, Soria JM, Tang W, Tofler GH, Uitterlinden
AG, van Hylckama Vlieg A, Seshadri S, Boerwinkle E, 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.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/30642921
Genome-wide association trans-ethnic meta-analyses identifies novel
associations regulating coagulation Factor VIII and von Willebrand
Factor plasma level.
Sabater-Lleal M, Huffman J, de Vries S, Marten J, ……………. Soria
JM, ………….
Smith NL. INVENT Consortium; MEGASTROKE consortium
of the International
Stroke Genetics Consortium (ISGC)
.
Circulation
. 2019 Jan 29;139(5):620-635.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/30586737
Enhanced endoplasmic reticulum and mitochondrial stress in abdominal aortic
aneurysm.
Navas-Madroñal M, Rodriguez C, Kassan M, Fité J, Escudero JR, Cañes L, Martínez-
González J, Camacho M, Galán M.
Clin Sci (Lond). 2019 Jul 5;133(13):1421-1438.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/31239294
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 JM, Souto JC.
Thromb Res
.
2018 Jul 11;169:57-63.
Link;
https://www.ncbi.nlm.nih.gov/pubmed/30015229
Multivariable clinical-genetic risk model for predicting venous
thromboembolic events in patients with cancer.
Muñoz Martín A, Ortega I, Font C, Pachón V, Castellón V, Martínez-
Marín V, Salgado M, Martínez de Castro E, Calzas J, Rupérez A, Souto
JC, Martín M, Salas E, Soria JM.
Br J Cancer
. 2018 Mar 28. doi: 10.1038/s41416-018-0027-8.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/29588512
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 JM, Souto JC.
Thromb Res
. 2017 Jul 23;157:162-164.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/28759761
Next generation sequencing to dissect the genetic architecture of
KNG1 and F11 loci using factor XI levels as an intermediate
phenotype of thrombosis.
Martin-Fernandez L, Gavidia-Bovadilla G, Corrales I, Brunel H, Ramírez
L, López S, Souto JC, Vidal F, Soria JM.
PLoS One
. 2017 Apr 26;12(4):e0176301.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/28445521
Genome-wide association study with additional genetic and post-
transcriptional analyses reveals novel 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 JR, Tang W, Grossman V, de
Haan HG, Handin N, Silveira A, Souto JC, Franco-Cereceda A, Morange
PE, Gagnon F, Soria JM, Eriksson P, Hamsten A, Maegdefessel L,
Rosendaal FR, Wild P, Folsom AR, Trégouët DA, Sabater-Lleal M.
Hum Mol Genet
. 2017, 26(3):637-649.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/28053049
Circulating CCL20 as a New Biomarker of Abdominal Aortic Aneurysm.
Soto B, Gallastegi-Mozos T, Rodríguez C, Martínez-González J, Escudero JR, Vila L,
Camacho M.
Sci Rep. 2017 Dec 11;7(1):17331.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/29229985
The Central Role of KNG1 Gene as a Genetic Determinant of
Coagulation Pathway-Related Traits: Exploring Metaphenotypes.
Brunel H, Massanet R, Martinez-Perez A, Ziyatdinov A, Martin-
Fernandez L, Souto JC, Perera A, Soria JM.
PLoS One
. 2016 Dec 22;11(12):
Link
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 JM.
Sci Rep
. 2016 Dec 15;6:39255.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/28005926
Platelet-Derived Growth Factor Beta Polypeptide (PDGFB), a new
candidate plasma biomarker for venous thromboembolism: results
from the VEREMA affinity proteomics study.
M. Bruzelius, M.J. Iglesias, M.G. Hong, L. Sanchez-Rivera, Beata
Gyorgy, J.C. Souto, M. Frånberg, C. Fredolini, R.J. Strawbridge, M.
Holmström, A. Hamsten,M. Uhlén, A. Silveira, J.M. Soria, D.M. Smadja,
L. Butler, J.M. Schwenk, P.E. Morange, D.A. Trégouët, J. Odeberg.
Blood
2016 Oct 14. pii: blood-2016-05-711846.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/27742707
Genome-wide association analysis of self-reported events in 6,135
individuals and 252,827 controls identifies 8 loci associated with
thrombosis.
Hinds DA, Buil A, Ziemek D, Martinez-Perez A, Malik R, Folkersen L,
Mälarstig A, Soria JM, Bing N, Eriksson P, Souto JC, Hamsten A,
Dermitzakis ET, Tung JY, METASTROKE, Sabater-Lleal M
Hum Mol Genet.
2016,
25(9):1867-74
.
Link:
https://www.ncbi.nlm.nih.gov/pubmed/26908601
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, Martinez-Perez
A, Vilalta N, Font M, Souto JC, Soria JM.
PLoS One
. 2016 Jan 19;11(1):
Link:
https://www.ncbi.nlm.nih.gov/pubmed/26784699
The genetics of thrombosis in cancer (Spanish)
Soria JM and López S.
Med Clin-Barcelona
144 Suppl 1: 26-30, 2015
Link:
https://www.ncbi.nlm.nih.gov/pubmed/25771089
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