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The MAPT H1 Haplotype Is a Risk Factor for Alzheimer’s Disease in APOE ε4 Non-carriers
(Frontiers Media, 2019-12-04)
An ancestral inversion of 900 kb on chromosome 17q21, which includes the microtubule-associated protein tau (MAPT) gene, defines two haplotype clades in Caucasians (H1 and H2). The H1 haplotype has been linked inconsistently ...
Contribution of the GABAergic System to Non-Motor Manifestations in Premotor and Early Stages of Parkinson’s Disease
(Frontiers Media, 2019-10-30)
Non-motor symptoms are common in Parkinson's disease (PD) and they represent a major source of disease burden. Several non-motor manifestations, such as rapid eye movement sleep behavior disorder, olfactory loss, ...
Functional analysis of ankrd55, a multiple sclerosis risk gene with unknown function.
(2019-01-14)
El objetivo de este trabajo consiste en la caracterización de ANKRD55, un gen de función desconocida asociado a la esclerosis múltiple (EM). Para ello, por un lado, se realizó un análisis basado en DNA y expresión génica ...
Smooth muscle cell characterization and transcriptomic analysis in human carotid atherosclerotic plaques
(2018-10-19)
Las enfermedades cardiovasculares (CV) son una de las causas más importantes de discapacidad y muerte prematura en todo el mundo. Una de las causas subyacentes de las CV es la aterosclerosis. La aterosclerosis de carótida ...
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease
(Public Library Science 15(6) : (2019) // Article ID e1008180, 2019-06-06)
Multiple sclerosis (MS) is an inflammatory disease of the central nervous system characterized by myelin loss and neuronal dysfunction. Although the majority of patients do not present familial aggregation, Mendelian forms ...
Interactome of the Autoimmune Risk Protein ANKRD55
(Frontiers Media, 2019-09-18)
The ankyrin repeat domain-55 (ANKRD55) gene contains intronic single nucleotide polymorphisms (SNPs) associated with risk to contract multiple sclerosis, rheumatoid arthritis or other autoimmune disorders. Risk alleles of ...
A 4-Trifluoromethyl Analogue of Celecoxib Inhibits Arthritis by Suppressing Innate Immune Cell Activation
(Biomed Central, 2012-01-17)
Introduction: Celecoxib, a highly specific cyclooxygenase-2 (COX-2) inhibitor has been reported to have COX-2-independent immunomodulatory effects. However, celecoxib itself has only mild suppressive effects on arthritis. ...
Characterization of Carotid Smooth Muscle Cells during Phenotypic Transition
(MDPI, 2018-03)
Vascular smooth muscle cells (VSMCs) are central players in carotid atherosclerosis plaque development. Although the precise mechanisms involved in plaque destabilization are not completely understood, it is known that ...
Long Interleukin-22 Binding Protein Isoform-1 Is an Intracellular Activator of the Unfolded Protein Response
(Frontiers Media, 2018-12-14)
The human IL22RA2 gene co-produces three protein isoforms in dendritic cells [IL-22 binding protein isoform-1 (IL-22BPi1), IL-22BPi2, and IL-22BPi3]. Two of these, IL-22BPi2 and IL-22BPi3, are capable of neutralizing the ...
A Trifluoromethyl Analogue of Celecoxib Exerts Beneficial Effects in Neuroinflammation
(Public Library of Science, 2013-12-11)
Celecoxib is a selective cyclooxygenase-2 (COX2) inhibitor. We have previously shown that celecoxib inhibits experimental autoimmune encephalomyelitis (EAE) in COX-2-deficient mice, suggestive for a mode of action involving ...