Member database | CDD |
CDD type | domain |
Short name | KH-I_BICC1_rpt1 |
Set | KH-I |
Description
References
1.Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. Kraus MR, Clauin S, Pfister Y, Di Maio M, Ulinski T, Constam D, Bellanne-Chantelot C, Grapin-Botton A. Hum Mutat 33, 86-90, (2012). PMID: 21922595
2.Analysis of the effects of depression associated polymorphisms on the activity of the BICC1 promoter in amygdala neurones. Davidson S, Shanley L, Cowie P, Lear M, McGuffin P, Quinn JP, Barrett P, MacKenzie A. Pharmacogenomics J 16, 366-74, (2016). PMID: 26440730
3.Bicc1 Polymerization Regulates the Localization and Silencing of Bound mRNA. Rothe B, Leal-Esteban L, Bernet F, Urfer S, Doerr N, Weimbs T, Iwaszkiewicz J, Constam DB. Mol Cell Biol 35, 3339-53, (2015). PMID: 26217012
4.Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. Hum Mol Genet 23, 3481-9, (2014). PMID: 24501278
5.BICC1 as a novel prognostic biomarker in gastric cancer correlating with immune infiltrates. Zhao R, Peng C, Song C, Zhao Q, Rong J, Wang H, Ding W, Wang F, Xie Y. Int Immunopharmacol 87, 106828, (2020). PMID: 32736193
6.Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density. Mesner LD, Ray B, Hsu YH, Manichaikul A, Lum E, Bryda EC, Rich SS, Rosen CJ, Criqui MH, Allison M, Budoff MJ, Clemens TL, Farber CR. J Clin Invest 124, 2736-49, (2014). PMID: 24789909