Online Mendelian Inheritance in Man (OMIM) (original) (raw)

  1. Chimienti, F., Devergnas, S., Favier, A., Seve, M.Identification and cloning of a beta-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules. Diabetes 53: 2330-2337, 2004. [PubMed: 15331542] [Full Text: https://doi.org/10.2337/diabetes.53.9.2330\]
  2. Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, and Novartis Institutes for BioMedical Research.Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316: 1331-1336, 2007. [PubMed: 17463246] [Full Text: https://doi.org/10.1126/science.1142358\]
  3. Dwivedi, O. P., Lehtovirta, M., Hastoy, B., Chandra, V., Krentz, N. A. J., Kleiner, S., Jain, D., Richard, A.-M., Abaitua, F., Beer, N. L., Grotz, A., Prasad, R. B., and 35 others.Loss of ZnT8 function protects against diabetes by enhanced insulin secretion. Nature Genet. 51: 1596-1606, 2019. [PubMed: 31676859] [Full Text: https://doi.org/10.1038/s41588-019-0513-9\]
  4. Flannick, J., Mercader, J. M., Fuchsberger, C., Udler, M. S., Mahajan, A., Wessel, J., Teslovich, T. M., Caulkins, L., Koesterer, R., Barajas-Olmos, F., Blackwell, T. W., Boerwinkle, E., and 162 others.Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature 570: 71-76, 2019. [PubMed: 31118516] [Full Text: https://doi.org/10.1038/s41586-019-1231-2\]
  5. Flannick, J., Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., Atzmon, G., Benediktsson, R., Blangero, J., Bowden, D. W., and 70 others.Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nature Genet. 46: 357-363, 2014. [PubMed: 24584071] [Full Text: https://doi.org/10.1038/ng.2915\]
  6. Kleiner, S., Gomez, D., Megra, B., Na, E., Bhavsar, R., Cavino, K., Xin, Y., Rojas, J., Dominguez-Gutierrez, G., Zambrowicz, B., Carrat, G., Chabosseau, P., Hu, M., Murphy, A. J., Yancopoulos, G. D., Rutter, G. A., Gromada, J.Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity. Proc. Nat. Acad. Sci. 115: E7642-E7649, 2018. [PubMed: 30038024] [Full Text: https://doi.org/10.1073/pnas.1721418115\]
  7. Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., Erdos, M. R., Stringham, H. M., Chines, P. S., Jackson, A. U., Prokunina-Olsson, L., Ding, C.-J., and 29 others.A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316: 1341-1345, 2007. [PubMed: 17463248] [Full Text: https://doi.org/10.1126/science.1142382\]
  8. Seve, M., Chimienti, F., Devergnas, S., Favier, A.In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression. BMC Genomics 5: 32, 2004. Note: Electronic Article. [PubMed: 15154973] [Full Text: https://doi.org/10.1186/1471-2164-5-32\]
  9. Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D., Boutin, P., Vincent, D., Belisle, A., Hadjadj, S., Balkau, B., Heude, B., and 10 others.A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445: 881-885, 2007. [PubMed: 17293876] [Full Text: https://doi.org/10.1038/nature05616\]
  10. Steinthorsdottir, V., Thorleifsson, G., Reynisdottir, I., Benediktsson, R., Jonsdottir, T., Walters, G. B., Styrkarsdottir, U., Gretarsdottir, S., Emilsson, V., Ghosh, S., Baker, A., Snorradottir, S., and 33 others.A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nature Genet. 39: 770-775, 2007. [PubMed: 17460697] [Full Text: https://doi.org/10.1038/ng2043\]
  11. Wenzlau, J. M., Juhl, K., Yu, L., Moua, O., Sarkar, S. A., Gottlieb, P., Rewers, M., Eisenbarth, G. S., Jensen, J., Davidson, H. W., Hutton, J. C.The cation efflux transporter ZnT8 (Slc30A8) is a major autoantigen in human type 1 diabetes. Proc. Nat. Acad. Sci. 104: 17040-17045, 2007. [PubMed: 17942684] [Full Text: https://doi.org/10.1073/pnas.0705894104\]
  12. Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H., Timpson, N. J., Perry, J. R. B., Rayner, N. W., Freathy, R. M., Barrett, J. C., Shields, B., and 15 others.Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316: 1336-1341, 2007. Note: Erratum: Science 317: 1036 only, 2007. [PubMed: 17463249] [Full Text: https://doi.org/10.1126/science.1142364\]