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Online Mendelian Inheritance in Man (OMIM)

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  1. Arboleda-Velasquez, J. F., Zhou, Z., Shin, H. K., Louvi, A., Kim, H.-H., Savitz, S. I., Liao, J. K., Salomone, S., Ayata, C., Moskowitz, M. A., Artavanis-Tsakonas, S. Linking Notch signaling to ischemic stroke. Proc. Nat. Acad. Sci. 105: 4856-4861, 2008. [PubMed: 18347334] [Full Text: https://doi.org/10.1073/pnas.0709867105]

  2. Bang, O. Y., Kim, J. W., Lee, J. H., Lee, M. A., Lee, P. H., Joo, I. S., Huh, K. Association of the metabolic syndrome with intracranial atherosclerotic stroke. Neurology 65: 296-298, 2005. [PubMed: 16043803] [Full Text: https://doi.org/10.1212/01.wnl.0000168862.09764.9f]

  3. Berger, K., Stogbauer, F., Stoll, M., Wellmann, J., Huge, A., Cheng, S., Kessler, C., John, U., Assmann, G., Ringelstein, E. B., Funke, H. The glu298asp polymorphism in the nitric oxide synthase 3 gene is associated with the risk of ischemic stroke in two large independent case-control studies. Hum. Genet. 121: 169-178, 2007. [PubMed: 17165044] [Full Text: https://doi.org/10.1007/s00439-006-0302-2]

  4. Bersano, A., Ballabio, E., Bresolin, N., Candelise, L. Genetic polymorphisms for the study of multifactorial stroke. Hum. Mutat. 29: 776-795, 2008. [PubMed: 18421701] [Full Text: https://doi.org/10.1002/humu.20666]

  5. Brass, L. M., Isaacsohn, J. L., Merikangas, K. R., Robinette, C. D. A study of twins and stroke. Stroke 23: 221-223, 1992. [PubMed: 1561651] [Full Text: https://doi.org/10.1161/01.str.23.2.221]

  6. Brass, L. M., Shaker, L. A. Family history in patients with transient ischemic attacks. Stroke 22: 837-841, 1991. [PubMed: 1853402] [Full Text: https://doi.org/10.1161/01.str.22.7.837]

  7. Campbell, D. J., Woodward, M., Chalmers, J. P., Colman, S. A., Jenkins, A. J., Kemp, B. E., Neal, B. C., Patel, A., MacMahon, S. W. Soluble vascular cell adhesion molecule 1 and N-terminal pro-B-type natriuretic peptide in predicting ischemic stroke in patients with cerebrovascular disease. Arch. Neurol. 63: 60-65, 2006. [PubMed: 16286536] [Full Text: https://doi.org/10.1001/archneur.63.1.noc50221]

  8. Casas, J. P., Hingorani, A. D., Bautista, L. E., Sharma, P. Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18000 cases and 58000 controls. Arch. Neurol. 61: 1652-1662, 2004. [PubMed: 15534175] [Full Text: https://doi.org/10.1001/archneur.61.11.1652]

  9. Catto, A. J. Genetic aspects of the hemostatic system in cerebrovascular disease. Neurology 57 (suppl. 2): S24-S30, 2001. [PubMed: 11552051] [Full Text: https://doi.org/10.1212/wnl.57.suppl_2.s24]

  10. Chen, J., Yang, T., Yu, H., Sun, K., Shi, Y., Song, W., Bai, Y., Wang, X., Lou, K., Song, Y., Zhang, Y., Hui, R. A functional variant in the 3-prime-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211. Hum. Molec. Genet. 19: 2524-2533, 2010. [PubMed: 20378606] [Full Text: https://doi.org/10.1093/hmg/ddq131]

  11. Delanty, N., Vaughan, C. J. Vascular effects of statins in stroke. Stroke 28: 2315-2320, 1997. [PubMed: 9368582] [Full Text: https://doi.org/10.1161/01.str.28.11.2315]

  12. Dominiczak, A. F., McBride, M. W. Genetics of common polygenic stroke. Nature Genet. 35: 116-117, 2003. [PubMed: 14517535] [Full Text: https://doi.org/10.1038/ng1003-116]

  13. Duggirala, R., Gonzalez Villalpando, C., O'Leary, D. H., Stern, M. P., Blangero, J. Genetic basis of variation in carotid artery wall thickness. Stroke 27: 833-837, 1996. [PubMed: 8623101] [Full Text: https://doi.org/10.1161/01.str.27.5.833]

  14. Fornage, M., Lee, C. R., Doris, P. A., Bray, M. S., Heiss, G., Zeldin, D. C., Boerwinkle, E. The soluble epoxide hydrolase gene harbors sequence variation associated with susceptibility to and protection from incident ischemic stroke. Hum. Molec. Genet. 14: 2829-2837, 2005. [PubMed: 16115816] [Full Text: https://doi.org/10.1093/hmg/ddi315]

  15. Gunel, M., Lifton, R. P. Counting strokes. Nature Genet. 13: 384-385, 1996. [PubMed: 8696326] [Full Text: https://doi.org/10.1038/ng0896-384]

  16. Helgadottir, A., Gretarsdottir, S., St. Clair, D., Manolescu, A., Cheung, J., Thorleifsson, G., Pasdar, A., Grant, S. F. A., Whalley, L. J., Hakonarson, H., Thorsteinsdottir, U., Kong, A., Gulcher, J., Stefansson, K., MacLeod, M. J. Association between the gene encoding 5-lipoxygenase-activating protein and stroke replicated in a Scottish population. Am. J. Hum. Genet. 76: 505-509, 2005. [PubMed: 15640973] [Full Text: https://doi.org/10.1086/428066]

  17. Helgadottir, A., Manolescu, A., Thorleifsson, G., Gretarsdottir, S., Jonsdottir, H., Thorsteinsdottir, U., Samani, N. J., Gudmundsson, G., Grant, S. F. A., Thorgeirsson, G., Sveinbjornsdottir, S., Valdimarsson, E. M., and 14 others. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nature Genet. 36: 233-239, 2004. [PubMed: 14770184] [Full Text: https://doi.org/10.1038/ng1311]

  18. Ikram, M. A., Seshadri, S., Bis, J. C., Fornage, M., DeStefano, A. L., Aulchenko, Y. S., Debette, S., Lumley, T., Folsom, A. R., van den Herik, E. G., Bos, M. J., Beiser, A., and 34 others. Genomewide association studies of stroke. New Eng. J. Med. 360: 1718-1728, 2009. [PubMed: 19369658] [Full Text: https://doi.org/10.1056/NEJMoa0900094]

  19. International Stroke Genetics Consortium, Wellcome Trust Case-Control Consortium 2. Failure to validate association between 12p13 variants and ischemic stroke. (Letter) New Eng. J. Med. 362: 1547-1550, 2010. [PubMed: 20410525] [Full Text: https://doi.org/10.1056/NEJMc0910050]

  20. Jeffs, B., Clark, J. S., Anderson, N. H., Gratton, J., Brosnan, M. J., Gauguier, D., Reid, J. L., Macrae, I. M., Dominiczak, A. F. Sensitivity to cerebral ischaemic insult in a rat model of stroke is determined by a single genetic locus. Nature Genet. 16: 364-367, 1997. [PubMed: 9241273] [Full Text: https://doi.org/10.1038/ng0897-364]

  21. Kubo, M., Hata, J., Ninomiya, T., Matsuda, K., Yonemoto, K., Nakano, T., Matsushita, T., Yamazaki, K., Ohnishi, Y., Saito, S., Kitazono, T., Ibayashi, S., Sueishi, K., Iida, M., Nakamura, Y., Kiyohara, Y. A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction. Nature Genet. 39: 212-217, 2007. [PubMed: 17206144] [Full Text: https://doi.org/10.1038/ng1945]

  22. MacMahon, S., Peto, R., Cutler, J., Collins, R., Sorlie, P., Neaton, J., Abbott, R., Godwin, J., Dyer, A., Stamler, J. Blood pressure, stroke, and coronary heart disease. Part 1, prolonged differences in blood pressure: prospective observational studies corrected for the regression dilution bias. Lancet 335: 765-774, 1990. [PubMed: 1969518] [Full Text: https://doi.org/10.1016/0140-6736(90)90878-9]

  23. Martin-Ruiz, C., Dickinson, H. O., Keys, B., Rowan, E., Kenny, R. A., von Zglinicki, T. Telomere length predicts poststroke mortality, dementia, and cognitive decline. Ann. Neurol. 60: 174-180, 2006. [PubMed: 16685698] [Full Text: https://doi.org/10.1002/ana.20869]

  24. Matsushita, T., Ashikawa,, K., Yonemoto, K., Hirakawa, Y., Hata, J., Amitani, H., Doi, Y., Ninomiya, T., Kitazono, T., Ibayashi, S., Iida, M., Nakamura, Y., Kiyohara, Y., Kubo, M. Functional SNP of ARHGEF10 confers risk of atherothrombotic stroke. Hum. Molec. Genet. 19: 1137-1146, 2010. [PubMed: 20042462] [Full Text: https://doi.org/10.1093/hmg/ddp582]

  25. Matsushita, T., Umeno, J., Hirakawa, Y., Yonemoto, K., Ashikawa, K., Amitani, H., Ninomiya, T., Hata, J., Doi, Y., Kitazono, T., Iida, M., Nakamura, Y., Kiyohara, Y., Kubo, M. Association study of the polymorphisms on chromosome 12p13 with atherothrombotic stroke in the Japanese population. J. Hum. Genet. 55: 473-476, 2010. [PubMed: 20448654] [Full Text: https://doi.org/10.1038/jhg.2010.45]

  26. Pantoni, L., Garcia, J. H. Pathogenesis of leukoaraiosis: a review. Stroke 28: 652-659, 1997. [PubMed: 9056627] [Full Text: https://doi.org/10.1161/01.str.28.3.652]

  27. Rubattu, S., Volpe, M., Kreutz, R., Ganten, U., Ganten, D., Lindpaintner, K. Chromosomal mapping of quantitative trait loci contributing to stroke in a rat model of complex human disease. Nature Genet. 13: 429-434, 1996. [PubMed: 8696337] [Full Text: https://doi.org/10.1038/ng0896-429]

  28. Sacco, R. L., Benjamin, E. J., Broderick, J. P., Dyken, M., Easton, J. D., Feinberg, W. M., Goldstein, L. B., Gorelick, P. B., Howard, G., Kittner, S. J., Manolio, T. A., Whisnant, J. P., Wolf, P. A. Risk factors. Stroke 28: 1507-1517, 1997. [PubMed: 9227708] [Full Text: https://doi.org/10.1161/01.str.28.7.1507]

  29. Simard, J. M., Chen, M., Tarasov, K. V., Bhatta, S., Ivanova, S., Melnitchenko, L., Tsymbalyuk, N., West, G. A., Gerzanich, V. Newly expressed SUR1-regulated NC(Ca-ATP) channel mediates cerebral edema after ischemic stroke. Nature Med. 12: 433-440, 2006. [PubMed: 16550187] [Full Text: https://doi.org/10.1038/nm1390]

  30. Tournier-Lasserve, E. New players in the genetics of stroke. New Eng. J. Med. 347: 1711-1712, 2002. [PubMed: 12444190] [Full Text: https://doi.org/10.1056/NEJMcibr022035]

  31. Wang, Y., Meng, X., Wang, A., Xie, X., Pan, Y., Johnston, S. C., Li, H., Bath, P. M., Dong, Q., Xu, A., Jing, J., Lin, J., and 16 others. Ticagrelor versus clopidogrel in CYP2C19 loss-of-function carriers with stroke or TIA. New Eng. J. Med. 385: 2520-2530, 2021. [PubMed: 34708996] [Full Text: https://doi.org/10.1056/NEJMoa2111749]

  32. Zacho, J., Tybjaerg-Hansen, A., Jensen, J. S., Grande, P., Sillesen, H., Nordestgaard, B. G. Genetically elevated C-reactive protein and ischemic vascular disease. New Eng. J. Med. 359: 1897-1908, 2008. [PubMed: 18971492] [Full Text: https://doi.org/10.1056/NEJMoa0707402]

  33. Zee, R. Y. L., Cook, N. R., Cheng, S., Reynolds, R., Erlich, H. A., Lindpaintner, K., Ridker, P. M. Polymorphism in the P-selectin and interleukin-4 genes as determinants of stroke: a population-based, prospective genetic analysis. Hum. Molec. Genet. 13: 389-396, 2004. [PubMed: 14681304] [Full Text: https://doi.org/10.1093/hmg/ddh039]