ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Roma, Italy. In Brain, Jan 2016
Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6).
Differential expression of tripartite motif-containing family in normal human dermal fibroblasts in response to porcine endogenous retrovirus infection.
Sosnowiec, Poland. In Folia Biol (praha), 2013
Nine (TRIM1, TRIM2, TRIM5, TRIM14, TRIM16, TRIM18, TRIM22, TRIM27 and TRIM31) statistically significantly differentially expressed genes were found (P < 0.05, one-way ANOVA).
Effects of polar oil related hydrocarbons on steroidogenesis in vitro in H295R cells.
Bergen, Norway. In Chemosphere, 2013
Endpoints include hormone (cortisol, estradiol, progesterone, testosterone) production at the functional level and key genes for steroidogenesis (17β-HSD1, 17β-HSD4, 3β-HSD2, ACTHR, CYP11A1, CYP11B1, CYP11B2, CYP17, CYP19, CYP21, DAX1, EPHX, HMGR, SF1, STAR) and metabolism (CYP1A) at the molecular level.
Effect of topical application of tetracaine on intraocular pressure in dogs: preliminary results.
Saintes, France. In J Fr Ophtalmol, 2013
For group 1, IOP1 mean (SD), IOP2 mean (SD), IOP3 mean (SD) and IOP4 mean (SD) were 14.6 (2.2) mmHg, 11.3 (3.2) mmHg, 14.4 (2.2) mmHg and 13.5 (3.9) mmHg respectively, while in group 2, IOP1 mean (SD), IOP2 mean (SD), IOP3 mean (SD) and IOP4 mean (SD) were 14.2 (3.8) mmHg, 9.5 (3.7) mmHg, 13.5 (2.8) mmHg and 13.0 (3.8) mmHg respectively.