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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 ...
Fine mapping and functional analysis of the multiple sclerosis risk gene CD6
(Public Library of Science, 2013)
CD6 has recently been identified and validated as risk gene for multiple sclerosis (MS), based on the association of a single
nucleotide polymorphism (SNP), rs17824933, located in intron 1. CD6 is a cell surface scavenger ...
Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients
(Genetics Society of America, 2016-07-01)
Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) ...
Human Endogenous Retrovirus HERV-Fc1 Association with Multiple Sclerosis Susceptibility: A Meta-Analysis
(Public Library Science, 2014-03-03)
Background: Human endogenous retroviruses (HERVs) are repetitive sequences derived from ancestral germ-line infections by exogenous retroviruses and different HERV families have been integrated in the genome. HERV-Fc1 in ...
A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis
(Oxford University Pres, 2015-10-01)
Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine the causal polymorphism, ...