XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Illkirch-Graffenstaden, France. In Am J Hum Genet, 2013
We also highlight 15 other genes (CCDC22, CLIC2, CNKSR2, FRMPD4, HCFC1, IGBP1, KIAA2022, KLF8, MAOA, NAA10, NLGN3, RPL10, SHROOM4, ZDHHC15, and ZNF261) for which replication studies are warranted.
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
Omaha, United States. In Invest Ophthalmol Vis Sci, 2011
Mutation search in exons and splice junctions of candidate genes CTAG2, GAB3, MPP1, F8Bver, FUNDC2, VBP1, RAB39B, CLIC2, TMLHE, SYBL, IL9R, SPRY3, and CXYorf1 did not detect a pathogenic or predisposing variant.
Interaction of Sedlin with PAM14.
Hefei, China. In J Cell Biochem, 2010
We have previously shown that Sedlin interacts with the intracellular chloride channel proteins CLIC1 and CLIC2 in the cytoplasm.
Structure of the Janus protein human CLIC2.
Australia. In J Mol Biol, 2007
CLIC2 forms pH-dependent chloride channels in vitro with higher channel activity at low pH levels and that the channels are subject to redox regulation
Expression, purification, crystallization and preliminary X-ray diffraction analysis of chloride intracellular channel 2 (CLIC2).
Australia. In Acta Crystallogr Sect F Struct Biol Cryst Commun, 2007
Human CLIC2 was crystallized in 2 different forms, in presence of GSSH. Form A displayed P2(1)2(1)2(1) symmetry, with unit-cell parameters a=44.0, b=74.7, c=79.8 A. Form B displayed P2(1) symmetry, with unit-cell parameters a=36.0, b=66.9, c=44.1 A.