6 documents found, page 1 of 1
Allele-specific miRNA-binding analysis identifies candidate target genes for br...
Jacinta-Fernandes, Ana; Xavier, Joana M.; Magno, Ramiro; Lage, Joel; Maia, Ana-TeresaMost breast cancer (BC) risk-associated single-nucleotide polymorphisms (raSNPs) identified in genome-wide association studies (GWAS) are believed to cis-regulate the expression of genes. We hypothesise that cis-regulatory variants contributing to disease risk may be affecting microRNA (miRNA) genes and/or miRNA binding. To test this, we adapted two miRNA-binding prediction algorithms-TargetScan and miRanda-to ...
Mitochondrial genome association study with peripheral arterial disease and ven...
Abrantes, Patrícia; Rosa, Alexandra; Francisco, Vânia; Sousa, Inês; Xavier, Joana M.; Oliveira, Sofia A.Background and aims: Peripheral arterial disease (PAD) and venous thromboembolism (VTE) are vascular traits sharing common modifiable and non-modifiable risk factors. These vascular pathologies have known nuclear-encoded genetic risk factors and the mitochondrial DNA may account for part of the missing heritability. To determine if PAD and VTE have a dual genetic control (mitochondrial and nu clear), we hereby ...
Ulcerative colitis is under dual (mitochondrial and nuclear) genetic control
Rosa, Alexandra; Abrantes, Patrícia; Sousa, Inês; Francisco, Vânia; Santos, Patrícia; Francisco, David; Xavier, Joana M.; Oliveira, Sofia A.Background: Cellular oxidative stress and genetic susceptibility have been implicated in the multifactorial etiology of ulcerative colitis (UC). The nuclear genome association with UC has been intensely investigated, but the role of the mitochondrial DNA (mtDNA) has received far less attention and may account for part of the missing heritability. This study is a comprehensive analysis of the mtDNA contribution ...
Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWA...
Abrantes, Patrícia; Santos, Maria M.; Sousa, Inês; Xavier, Joana M.; Francisco, Vânia; Krug, Tiago; Sobral, João; Matos, Mafalda; Martins, MadalenaSubarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of a saccular intracranial aneurysm (IA), which is a blood vessel dilation caused by disease or weakening of the vessel wall. Although the genetic contribution to IA is well established, to date no single gene has been unequivocally identified as responsible...
Targeting molecular networks for drug research
Pinto, Jose P.; Machado, Ruis. R.; Xavier, Joana M.; Futschik, Matthias E.The study of molecular networks has recently moved into the limelight of biomedical research. While it has certainly provided us with plenty of new insights into cellular mechanisms, the challenge now is how to modify or even restructure these networks. This is especially true for human diseases, which can be regarded as manifestations of distorted states of molecular networks. Of the possible interventions for...
Cell death targets and potential modulators in Alzheimer’s disease
Castro, Rui E.; Santos, Maria M. M.; Glória, Paulo M. C.; Ribeiro, Carlos J. A.; Ferreira, Duarte M. S.; Xavier, Joana M.; Moreira, RuiApoptosis is now recognized as a normal feature in the development of the nervous system and may also play a role in neurodegenerative disorders, such as Alzheimer’s disease. Cell surface receptors, caspases, mitochondrial factors or p53 participate in the modulation and execution of cell death. Therefore, the ability to understand and manipulate the cell death machinery is an obvious goal of medical research. ...