| This is the first copy number variation association study of the KCNIP1 gene in Chinese population, and these data indicated that KCNIP1 might function as a type 2 diabetes-susceptibility gene whose dysregulation alters insulin production. | Divergent patterns of genic copy number variation in KCNIP1 gene reveal risk locus of type 2 diabetes in Chinese population.
Xu Y, Shi W, Song R, Long W, Guo H, Yuan S, Zhang T. | 10/13/2018 |
| Study shows that the VAPB-PTPIP51 tethers regulate autophagy and demonstrates that overexpression of VAPB or PTPIP51 to tighten endoplasmic reticulum-mitochondria contacts impairs, whereas small interfering RNA-mediated loss of VAPB or PTPIP51 to loosen contacts stimulates, autophagosome formation. | The ER-Mitochondria Tethering Complex VAPB-PTPIP51 Regulates Autophagy.
Gomez-Suaga P, Paillusson S, Stoica R, Noble W, Hanger DP, Miller CCJ., Free PMC Article | 07/7/2018 |
| the current study provides evidence that genetic variants of Kv accessory proteins may contribute to the susceptibility of Attention-deficit/hyperactivity disorder. | Attention-deficit/hyperactivity disorder associated with KChIP1 rs1541665 in Kv channels accessory proteins.
Yuan FF, Gu X, Huang X, Hou YW, Zhong Y, Lin J, Wu J., Free PMC Article | 12/23/2017 |
| These studies showed that a common copy number variation in KCNIP1 gene is a genetic predictor of atrial fibrillation risk possibly pointing to a functional pathway. | Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation.
Tsai CT, Hsieh CS, Chang SN, Chuang EY, Ueng KC, Tsai CF, Lin TH, Wu CK, Lee JK, Lin LY, Wang YC, Yu CC, Lai LP, Tseng CD, Hwang JJ, Chiang FT, Lin JL., Free PMC Article | 06/28/2016 |
| KCNIP1 from copy number variations study might function as a type 2 diabetes susceptibility gene whose dysregulation alters insulin production. | Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion.
Lee HS, Moon S, Yun JH, Lee M, Hwang MY, Kim YJ, Han BG, Kim JM, Kim BJ. | 04/18/2015 |
| Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis | Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.
Vinay Kumar C, Kumar KM, Swetha R, Ramaiah S, Anbarasu A. | 02/14/2015 |
| V234I-VAPB induces ubiquitin aggregation followed by cell death; proposed that V234I-VAPB exhibits the characteristics of amyotrophic lateral sclerosis in spite of not having the typical aggregation property of different mutations in various neurodegenerative diseases | First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis.
Chattopadhyay D, Sengupta S. | 07/12/2014 |
| our findings suggest that KChIP1 interacts with Kv4.3 in interneurons at the stratum lacunosum-moleculare/radiatum junction | KChIP1 modulation of Kv4.3-mediated A-type K(+) currents and repetitive firing in hippocampal interneurons.
Bourdeau ML, Laplante I, Laurent CE, Lacaille JC. | 06/4/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium., Free PMC Article | 09/15/2010 |
| EF-hands 3 and 4 of KChIP1 are functionally involved in a specific association with PS on the membrane | Functional role of EF-hands 3 and 4 in membrane-binding of KChIP1.
Liao YS, Chen KC, Chang LS. | 01/21/2010 |
| These results reveal a new role for KChIP3 in the regulation of calcium regulated secretion and also suggest that the functions of each of the KChIPs may be more specialized than previously appreciated. | Specific effects of KChIP3/calsenilin/DREAM, but not KChIPs 1, 2 and 4, on calcium signalling and regulated secretion in PC12 cells.
Venn N, Haynes LP, Burgoyne RD., Free PMC Article | 01/21/2010 |
| Data show that KChIP1, KChIP2.1, and KChIP2.2 could form homo- as well as hetero-oligomers, and that this oligomerization did not perturb their interaction with Kv4.2 potassium channel. | Protein-protein interactions of KChIP proteins and Kv4.2.
Lin YL, Chen CY, Cheng CP, Chang LS. | 01/21/2010 |
| X-ray crystallographic and small-angle X-ray scattering data that show that the KChIP1-Kv4.3 N-terminal cytoplasmic domain complex is a cross-shaped octamer bearing two principal interaction sites. | Three-dimensional structure of the KChIP1-Kv4.3 T1 complex reveals a cross-shaped octamer.
Pioletti M, Findeisen F, Hura GL, Minor DL Jr., Free PMC Article | 01/21/2010 |