Search results for "TL1A"

showing 2 items of 2 documents

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the…

2015

The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and unmethylated on the maternal chromosome 14 in most cells. Genetic and epigenetic abnormalities affecting these imprinted gene clusters result in two different phenotypes currently known as maternal upd(14) syndrome and paternal upd(14) syndrome. However, only few patients carrying a maternal…

14q32.2 imprinted regionGenotypeBiologyPregnancy ProteinsMEG3-DMRGenomic ImprintingPaternal uniparental disomy chromosome 14 [upd(14)pat]GeneticsmedicineHumans14q32.2 maternal deletionEpigenetics"coat-hanger" rib signGeneGenetics (clinical)Sequence DeletionGeneticsMEG3Chromosomes Human Pair 14Comparative Genomic HybridizationIG-DMRMEG3 geneCalcium-Binding ProteinsInfant NewbornChromosomeMembrane ProteinsSyndromeDNA MethylationUniparental Disomymedicine.diseasePrognosisPhenotypeMolecular biologyUniparental disomyDifferentially methylated regionsPhenotypeSkeletal dysplasiaIntercellular Signaling Peptides and ProteinsFemaleRNA Long NoncodingRTL1as geneGenomic imprintingAmerican journal of medical genetics. Part A
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Pro-inflammatory CX3CR1+ CD59+ TL1A+ IL-23+ monocytes are expanded in patients with Ankylosing Spondylitis and modulate ILC3 immune functions

2018

Gut derived ILC3 have been demonstrated to participate in AS pathogenesis. CX3CR1+ mononuclear phagocytes (MNP) have been demonstrated to modulate ILC3 function in the gut. The aim of this study was to study the role of pro-inflammatory CX3CR1+ CD59+ MNP in modulating ILC3 function in AS patients.

Settore MED/16 - ReumatologiaCX3CR1+ monocyteCX3CR1+ monocytesCX3CR1+ monocytes; IL-23; ILC3; TL1A; gut inflammationIL-23ILC3TL1Agut inflammation
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