Maria Sabater‐Lleal
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View article: A Comprehensive Analysis of the Abdominal Aortic Aneurysm Growth Rate in the Spanish Population
A Comprehensive Analysis of the Abdominal Aortic Aneurysm Growth Rate in the Spanish Population Open
Objective: The risk of Abdominal Aortic Aneurysm (AAA) rupture is associated with the aneurysm size and growth rate. This study aims to provide a global description of growth rates per intervals of AAA diameter size for individuals in the …
View article: A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open
Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …
View article: RAB3GAP2 is a Regulator of Skeletal Muscle Endothelial Cell Proliferation and Associated with Capillary Density
RAB3GAP2 is a Regulator of Skeletal Muscle Endothelial Cell Proliferation and Associated with Capillary Density Open
View article: Author Correction: The power of genetic diversity in genome-wide association studies of lipids
Author Correction: The power of genetic diversity in genome-wide association studies of lipids Open
View article: The power of genetic diversity in genome-wide association studies of lipids
The power of genetic diversity in genome-wide association studies of lipids Open
View article: A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids Open
View article: Differential Expression Analyses on Human Aortic Tissue Reveal Novel Genes and Pathways Associated With Abdominal Aortic Aneurysm Onset and Progression
Differential Expression Analyses on Human Aortic Tissue Reveal Novel Genes and Pathways Associated With Abdominal Aortic Aneurysm Onset and Progression Open
Background Abdominal aortic aneurysms (AAAs) are focal dilatations of the abdominal aorta that expand progressively, increasing their risk of rupture. Rupture of an AAA is associated with high mortality rates, but the mechanisms underlying…
View article: Deficiency of mitophagy mediator Parkin in aortic smooth muscle cells exacerbates abdominal aortic aneurysm
Deficiency of mitophagy mediator Parkin in aortic smooth muscle cells exacerbates abdominal aortic aneurysm Open
Abdominal aortic aneurysms (AAAs) are a degenerative aortic disease and associated with hallmarks of aging, such as mitophagy. Despite this, the exact associations among mitophagy, aging, and AAA progression remain unknown. In our study, g…
View article: Genome‐Wide Search for Nonadditive Allele Effects Identifies <i>PSKH2</i> as Involved in the Variability of Factor V Activity
Genome‐Wide Search for Nonadditive Allele Effects Identifies <i>PSKH2</i> as Involved in the Variability of Factor V Activity Open
Background Factor V (FV) is a key molecular player in the coagulation cascade. FV plasma levels have been associated with several human diseases, including thrombosis, bleeding, and diabetic complications. So far, 2 genes have been robustl…
View article: Differential expression analyses on aortic tissue reveal novel genes and pathways associated with abdominal aortic aneurysm onset and progression
Differential expression analyses on aortic tissue reveal novel genes and pathways associated with abdominal aortic aneurysm onset and progression Open
Background Abdominal aortic aneurysms (AAA) are focal dilatations of the abdominal aorta. They are normally asymptomatic and progressively expand, increasing their risk of rupture. Rupture of an AAA is associated with high mortality rates,…
View article: A genome wide search for non-additive allele effects identifies<i>PSKH2</i>as involved in the variability of Factor V activity
A genome wide search for non-additive allele effects identifies<i>PSKH2</i>as involved in the variability of Factor V activity Open
Background Factor V (FV) is a key molecular player in the coagulation cascade. FV plasma levels have been associated with several human diseases, including thrombosis, bleeding and diabetic complications. So far, two genes have been robust…
View article: A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels Open
Coagulation factor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are critical to coagulation and platelet aggregation. We leveraged whole-genome sequence data from the Trans-Omics for Precision Medicine (TOPMed) program …
View article: CD36 regulates factor VIII secretion from liver endothelial cells
CD36 regulates factor VIII secretion from liver endothelial cells Open
View article: A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment
A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment Open
View article: Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target Open
View article: Differential Expression Analyses on Aortic Tissue reveal Novel Genes and Pathways Associated with Abdominal Aortic Aneurysm Onset and Progression
Differential Expression Analyses on Aortic Tissue reveal Novel Genes and Pathways Associated with Abdominal Aortic Aneurysm Onset and Progression Open
Background: Abdominal aortic aneurysms (AAA) are focal dilatations of the abdominal aorta. They are normally asymptomatic and expand progressively, increasing their risk of rupture. Rupture of an AAA is associated with high mortality rates…
View article: The TABS Study: Analysis of Determinants of AAA Diameter and Growth Rate in Individuals of the Spanish Population
The TABS Study: Analysis of Determinants of AAA Diameter and Growth Rate in Individuals of the Spanish Population Open
Background: The risk of Abdominal Aortic Aneurysms (AAA) rupture is associated with aneurysm size and growth rate. There is substantial variation in growth rates between individuals. The present study aims to provide a global description o…
View article: Non-canonical functions of autophagy proteins in cardiovascular diseases
Non-canonical functions of autophagy proteins in cardiovascular diseases Open
View article: Polygenic risk of major depressive disorder as a risk factor for venous thromboembolism
Polygenic risk of major depressive disorder as a risk factor for venous thromboembolism Open
Major depressive disorder (MDD), bipolar disorder (BD), and schizophrenia (SCZ) are associated with an increased risk of cardiovascular diseases, including venous thromboembolism (VTE). The reasons for this are complex and include obesity,…
View article: Author Correction: The power of genetic diversity in genome-wide association studies of lipids
Author Correction: The power of genetic diversity in genome-wide association studies of lipids Open
View article: Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels
Antithrombin, Protein C, and Protein S: Genome and Transcriptome-Wide Association Studies Identify 7 Novel Loci Regulating Plasma Levels Open
Background: Antithrombin, PC (protein C), and PS (protein S) are circulating natural anticoagulant proteins that regulate hemostasis and of which partial deficiencies are causes of venous thromboembolism. Previous genetic association studi…
View article: DNA methylation analysis is used to identify novel genetic loci associated with circulating fibrinogen levels in blood
DNA methylation analysis is used to identify novel genetic loci associated with circulating fibrinogen levels in blood Open
View article: Additional file 33 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 33 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 33: Table S22. Mouse genes with lipid phenotypes (silver set).
View article: Additional file 25 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 25 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 25: Table S16. Comparison of effect size estimates for sex-stratified analysis in the replication cohorts.
View article: Additional file 10 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 10 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 10: Table S7. DESE phenotype-tissue association results using both GTEx gene-level and transcript-level selective expression.
View article: Additional file 29 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 29 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 29: Table S19. Comparison of sex-stratified effect sizes in the UK Biobank for BMI, waist hip ratio adjusted for BMI, alcohol use, and smoking status.
View article: Additional file 27 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 27 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 27: Table S17. Sex-stratified effect sizes in UK Biobank considering all individuals or only those not on cholesterol lowering medications.
View article: Additional file 7 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 7 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 7: Table S5. Lookup of all prioritized lipid genes in the Therapeutic Target Database 2022.
View article: Additional file 32 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 32 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 32: Table S21. Significant X chromosome results in the sex-combined and sex-stratified analysis and replication.
View article: Additional file 22 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis
Additional file 22 of Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis Open
Additional file 22: Table S14. Test for difference in effects for index variants from sex-stratified meta-analysis.