Obesity is associated with gene expression and imaging markers of iron accumulation in skeletal muscle.
Girona, Spain. In J Clin Endocrinol Metab, Feb 2016
Design, setting, patients and outcome measures: Markers of iron accumulation were measured in 3 different territories: Iron gene markers (TFRC1, TF, SLC11A2, FTL, FTH1 and SLC40A1) were studied in abdominal rectus abdominis (cohort 1, n=26) and quadriceps (cohort 2, n= 13) muscle using real time PCR, while paravertebral muscle R2* signal (as surrogate of iron content) (cohort 3, n=43) was evaluated by means of MRI.
Changes in markers associated with dendritic cells driving the differentiation of either TH2 cells or regulatory T cells correlate with clinical benefit during allergen immunotherapy.
Antony, France. In J Allergy Clin Immunol, Nov 2015
At an individual patient level, DC2-associated markers, such as CD141, GATA3, OX40 ligand, and receptor-interacting serine/threonine-protein kinase 4 (RIPK4), were downregulated after a 4-month sublingual AIT course concomitantly with an upregulation of DCreg cell-associated markers, including complement C1q subcomponent subunit A (C1QA), FcγRIIIA, ferritin light chain (FTL), and solute carrier organic anion transporter family member 2B1 (SLCO2B1), in the blood of clinical responders as opposed to nonresponders.
Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract.
Wuhan, China. In Twin Res Hum Genet, Aug 2015
METHODS: A patient with a congenital cataract and her twin sister were assessed for genetic factors that might contribute to their discordant phenotypes by mutation screening of 11 candidate genes (CRYGC, CRYGD, CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, MIP, HSF4, GJA3, and GJA8), exome analysis followed by Sanger sequencing of 10 additional candidate genes (PLEKHO2, FRYL, RBP3, P2RX2, GSR, TRAM1, VEGFA, NARS2, CADPS, and TEKT4), and promoter methylation analysis of five representative genes (TRAM1, CRYAA, HSF4, VEGFA, GJA3, DCT) plus one additional candidate gene (FTL).
Neurodegeneration with Brain Iron Accumulation Disorders Overview
Seattle, United States. In Unknown Journal, 2013
The ten genes known to be associated with types of NBIA are PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17.