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Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus
(Public Library of Science, 2013-07-03)
Background :
Thrombotic antiphospholipid syndrome is defined as a complex form of thrombophilia that is developed by a fraction of antiphospholipid antibody (aPLA) carriers. Little is known about the genetic risk factors ...
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 ...
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 ...
Combined Fluorescent-Chromogenic In Situ Hybridization for Identification and Laser Microdissection of Interphase Chromosomes
(Public Library of Science, 2013)
Chromosome territories constitute the most conspicuous feature of nuclear architecture, and they exhibit non-random distribution patterns in the interphase nucleus. We observed that in cell nuclei from humans with Down ...
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
(Public Library of Science, 2013-09-18)
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...