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Does Arterial Hypertension Influence the Onset of Huntington's Disease?
(Public Library Science, 2018-05-23)
Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor ...
MethylCal: Bayesian Calibration of Methylation Levels
(Oxford University Press, 2019-08-22)
Bisulfite amplicon sequencing has become the primary choice for single-base methylation quantification of multiple targets in parallel. The main limitation of this technology is a preferential amplification of an allele ...
Principal Criteria for Evaluating the Quality, Safety and Efficacy of hMSC-Based Products in Clinical Practice: Current Approaches and Challenges
(MDPI, 2019-10-24)
Human Mesenchymal Stem Cells (hMSCs) play an important role as new therapeutic alternatives in advanced therapies and regenerative medicine thanks to their regenerative and immunomodulatory properties, and ability to migrate ...
Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures
(Nature Publishing Group, 2019-07-10)
By GWAS studies on celiac disease, gene expression was studied at the level of the whole intestinal mucosa, composed by two different compartments: epithelium and lamina propria. Our aim is to analyse the gene-expression ...
Human mitochondrial DNA is extensively methylated in a non-CpG context
(Oxford University Press, 2019-09-06)
Mitochondrial dysfunction plays critical roles in cancer development and related therapeutic response; however, exact molecular mechanisms remain unclear. Recently, alongside the discovery of mitochondrial-specific DNA ...
Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption
(Oxford University Press, 2019-09-15)
Celiac disease (CeD) is an immune-mediated enteropathy with a strong genetic component where the main environmental trigger is dietary gluten, and currently a correct diagnosis of the disease is impossible if gluten-free ...
The DNA methylome of inflammatory bowel disease (IBD) reflects intrinsic and extrinsic factors in intestinal mucosal cells
(Taylor & Francis, 2020-04-12)
Abnormal DNA methylation has been described in human inflammatory conditions of the gastrointestinal tract, such as inflammatory bowel disease (IBD). As other complex diseases, IBD results from the balance between genetic ...
Identifcation of Loci Associated with Susceptibility to Bovine Paratuberculosis and with the Dysregulation of the MECOM, eEF1A2, and U1 Spliceosomal RNA Expression
(Springer Nature, 2021-01-11)
Although genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with the susceptibility to Mycobacterium avium subsp. paratuberculosis (MAP) infection, only a few functional ...
Small GTPases of the Ras and Rho Families Switch on/off Signaling Pathways in Neurodegenerative Diseases
(MDPI, 2020-08-31)
Small guanosine triphosphatases (GTPases) of the Ras superfamily are key regulators of many key cellular events such as proliferation, differentiation, cell cycle regulation, migration, or apoptosis. To control these ...
Comparison of predicted body fat percentage from anthropometric methods and from impedance in university students
(Cambridge University Press, 2004-11)
The objective of the present study was to compare different methods for evaluating body fat percentage (BF%) (anthropometric methods and bioelectrical impedance analysis) in university students. Subjects were 653 healthy ...