Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Guangzhou, China. In Invest Ophthalmol Vis Sci, 2015
PURPOSE: To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM).
The autoimmune basis of narcolepsy.
Palo Alto, United States. In Curr Opin Neurobiol, 2013
Genome-wide association studies have strengthened the association between narcolepsy and immune system gene polymorphisms, including the identification of polymorphisms in the T cell receptor alpha locus, TNFSF4 (also called OX40L), Cathepsin H (CTSH) the purinergic receptor P2RY11, and the DNA methyltransferase DNMT1.
Genetic association, seasonal infections and autoimmune basis of narcolepsy.
Palo Alto, United States. In J Autoimmun, 2013
Genome-wide association analysis shows a strong association between narcolepsy and polymorphisms in the TCRα locus and weaker associations within TNFSF4 (also called OX40L), Cathepsin H and the P2RY11-DNMT1 (purinergic receptor subtype P2Y11 to DNMT1, a DNA methytransferase) loci, suggesting an autoimmune basis.
Expression microarray analysis of brain tumors: what have we learned so far.
Atlanta, United States. In Front Biosci, 2002
These genes include EGFR, VEGF, transcription factor AP-2, insulin growth factor binding proteins 3 and 5, matrix metalloproteinases, tissue inhibitors of matrix metalloproteinases, CD44, basic fibroblast growth factor, and cathepsin H. Finally, novel roles for a few genes, including insulin growth factor binding protein 2 and apolipoprotein D, have been revealed for the first time by expression microarrays.