Search Results - "Xavier, Joana M."
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Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis
Published in Scientific reports (28-09-2024)“…Understanding breast cancer genetic risk relies on identifying causal variants and candidate target genes in risk loci identified by genome-wide association…”
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Targeting the p53 pathway of apoptosis
Published in Current pharmaceutical design (01-07-2010)“…The tumor suppressor protein, p53 is regarded as a key player in tumor suppression, as it promotes growth arrest, apoptosis and cellular senescence, while also…”
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Distinct regulatory functions of calpain 1 and 2 during neural stem cell self-renewal and differentiation
Published in PloS one (14-03-2012)“…Calpains are calcium regulated cysteine proteases that have been described in a wide range of cellular processes, including apoptosis, migration and cell cycle…”
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Characterization of the major histocompatibility complex locus association with Behçet’s disease in Iran
Published in Arthritis research & therapy (19-03-2015)“…© 2015 Xavier et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License…”
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p53 interaction with JMJD3 results in its nuclear distribution during mouse neural stem cell differentiation
Published in PloS one (31-03-2011)“…Conserved elements of apoptosis are also integral components of cellular differentiation. In this regard, p53 is involved in neurogenesis, being required for…”
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Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal
Published in PloS one (17-07-2015)“…Subarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of…”
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Apoptosis-associated microRNAs are modulated in mouse, rat and human neural differentiation
Published in BMC genomics (24-09-2010)“…MicroRNAs (miRs or miRNAs) regulate several biological processes in the cell. However, evidence for miRNAs that control the differentiation program of specific…”
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Cell death targets and potential modulators in Alzheimer's disease
Published in Current pharmaceutical design (01-01-2010)“…Apoptosis 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…”
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Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant
Published in NPJ breast cancer (08-06-2022)“…PIK3CA mutations are the most common in breast cancer, particularly in the estrogen receptor-positive cohort, but the benefit of PI3K inhibitors has had…”
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Gene expression profiling and association studies implicate the neuregulin signaling pathway in Behçet's disease susceptibility
Published in Journal of molecular medicine (Berlin, Germany) (01-08-2013)“…© Springer-Verlag Berlin Heidelberg 2013 Behçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology;…”
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IL10 low-frequency variants in Behçet's disease patients
Published in International journal of rheumatic diseases (01-05-2017)“…© 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd. Aim: To explain the missing heritability after the genome-wide…”
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The role of p53 in apoptosis
Published in Discovery medicine (01-02-2010)“…The dynamic and multiple functions of p53, together with its involvement in the most common non-infectious diseases, underscore the need to elucidate the…”
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FUT2: filling the gap between genes and environment in Behçet's disease?
Published in Annals of the rheumatic diseases (01-03-2015)“…To identify new susceptibility loci for Behçet's disease (BD), we performed a genome-wide association study (GWAS) using DNA pooling. Two replicate pools of…”
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Colocalised Genetic Associations Reveal Alternative Splicing Variants as Candidate Causal Links for Breast Cancer Risk in 10 Loci
Published in Cancers (29-08-2024)“…Genome-wide association studies (GWASs) have revealed numerous loci associated with breast cancer risk, yet the precise causal variants, their impact on…”
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Mitochondria: Major Regulators of Neural Development
Published in The Neuroscientist (01-08-2016)“…Mitochondria are organelles derived from primitive symbiosis between archeon ancestors and prokaryotic α-proteobacteria species, which lost the capacity of…”
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Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer
Published in European journal of cancer (1990) (01-09-2022)“…Translation of genome-wide association study (GWAS) findings into preventive approaches is challenged by the identification of the causal risk variants and the…”
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MicroRNA-34a Modulates Neural Stem Cell Differentiation by Regulating Expression of Synaptic and Autophagic Proteins
Published in Molecular neurobiology (01-06-2015)“…We have previously demonstrated the involvement of specific apoptosis-associated microRNAs (miRNAs), including miR-34a, in mouse neural stem cell (NSC)…”
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Mitochondrial translocation of p53 modulates neuronal fate by preventing differentiation-induced mitochondrial stress
Published in Antioxidants & redox signaling (01-09-2014)“…Apoptosis regulatory proteins, such as p53, play a pivotal role in neural differentiation, through mechanisms independent of cell death. In addition, p53 has…”
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Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behçet's disease
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-08-2012)“…Objective Independent replication of the findings from genome‐wide association studies (GWAS) remains the gold standard for results validation. Our aim was to…”
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Tauroursodeoxycholic acid increases neural stem cell pool and neuronal conversion by regulating mitochondria-cell cycle retrograde signaling
Published in Cell cycle (Georgetown, Tex.) (15-11-2014)“…The low survival and differentiation rates of stem cells after either transplantation or neural injury have been a major concern of stem cell-based therapy…”
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