| This is the first reported case of bilateral cystoid macular edema in association with the RIM1 mutation. Overall, our findings were more consistent with a phenotype of retinitis pigmentosa. | Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7.
Warwick AN, Shawkat F, Lotery AJ. | 11/18/2017 |
| The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism. | Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism.
Rühle F, Witten A, Barysenka A, Huge A, Arning A, Heller C, Krümpel A, Mesters R, Franke A, Lieb W, Riemenschneider M, Hiersche M, Limperger V, Nowak-Göttl U, Stoll M. | 08/19/2017 |
| Electrophysiological characterization of VDCC currents revealed that the suppressive effect of RIM2alpha on voltage-dependent inactivation (VDI) was stronger than that of RIM1alpha for the CaV2.1 variant containing the region encoded by exons 44 and 47. | C-terminal splice variants of P/Q-type Ca(2+) channel Ca(V)2.1 α(1) subunits are differentially regulated by Rab3-interacting molecule proteins.
Hirano M, Takada Y, Wong CF, Yamaguchi K, Kotani H, Kurokawa T, Mori MX, Snutch TP, Ronjat M, De Waard M, Mori Y., Free PMC Article | 06/10/2017 |
| Here, we report that, like Rab3A, RIM and Munc13 are present in human sperm and that they play a functional role in acrosomal exocytosis before the acrosomal calcium efflux | RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.
Bello OD, Zanetti MN, Mayorga LS, Michaut MA., Free PMC Article | 04/7/2012 |
| a novel functional coupling between RIM1 and the L-type Ca(V) channels via the Ca(V)beta auxiliary subunit that contribute to determine insulin secretion. | Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release.
Gandini MA, Sandoval A, González-Ramírez R, Mori Y, de Waard M, Felix R., Free PMC Article | 07/2/2011 |
| Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. | Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels.
Weiss N, Sandoval A, Kyonaka S, Felix R, Mori Y, De Waard M., Free PMC Article | 06/25/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G, Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK, Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT, McManus R, van Heel DA, Wijmenga C. | 04/1/2009 |
| Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
Need AC, Keefe RS, Ge D, Grossman I, Dickson S, McEvoy JP, Goldstein DB., Free PMC Article | 02/11/2009 |
| Even though the absence of pathogenic mutations suggests that RIM1 is notinvolved in autosomal recessive retinitis pigmentosa. | Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa.
Barragan I, Marcos I, Borrego S, Antiñolo G. | 01/21/2010 |
| Rim1 is a component of the presynaptic active zone and modulator of exocytosis and binds 14-3-3 through its N terminus | Rim, a component of the presynaptic active zone and modulator of exocytosis, binds 14-3-3 through its N terminus.
Sun L, Bittner MA, Holz RW. | 01/21/2010 |
| A possible role for RIMS1 in the enhancement of cognitive function at least in this kindred is suggested. | Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT., Free PMC Article | 01/21/2010 |