recent publications
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academic article
- Gitlin, J. M., Fischbeck, K., Crawford, T. O., Cwik, V., Fleischman, A., Gonye, K., Heine, D., Hobby, K., Kaufmann, P., Keiles, S., MacKenzie, A., Musci, T., et al. Carrier testing for spinal muscular atrophy Genetics in Medicine 2010 12:621-622 DOI:10.1097/GIM.0b013e3181ef6079 PMID:20808230
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Ben-Efraim, I., Frosst, P. D., Gerace, L.
Karyopherin binding interactions and nuclear import mechanism of nuclear pore complex protein tpr
BMC Cell Biology
2009
10:74
DOI:10.1186/1471-2121-10-74
PMID:19835572
PMCID:PMC2770460
- Frosst, P., Wattendorf, D. J. At-home genetic tests American Family Physician 2006 73:540-541 PMID:16477901
- Hsu, C., Boysen, M., Gritton, L. D., Frosst, P. D., Nemerow, G. R., Von Seggern, D. J. In vitro dendritic cell infection by pseudotyped adenoviral vectors does not correlate with their in vivo immunogenicity Virology 2005 332:1-7 DOI:10.1016/j.virol.2004.11.014 PMID:15661134
- Tran, P., Hiou-Tim, F., Frosst, P., Lussier-Cacan, S., Bagley, P., Selhub, J., Bottiglieri, T., Rozen, R. The curly-tail (ct) mouse, an animal model of neural tube defects, displays altered homocysteine metabolism without folate responsiveness or a defect in Mthfr Molecular Genetics and Metabolism 2002 76:297-304 DOI:10.1016/s1096-7192(02)00108-7 PMID:12208134
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Frosst, P., Guan, T., Subauste, C., Hahn, K., Gerace, L.
Tpr is localized within the nuclear basket of the pore complex and has a role in nuclear protein export
Journal of Cell Biology
2002
156:617-630
DOI:10.1083/jcb.200106046
PMID:11839768
PMCID:PMC2174070
- Goyette, P., Pai, A., Milos, R., Frosst, P., Tran, P., Chen, Z., Chan, M., Rozen, R. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR) Mammalian Genome 1998 9:652-656 DOI:10.1007/s003359900838 PMID:9680386
- Christensen, B., Frosst, P., Lussier-Cacan, S., Selhub, J., Goyette, P., Rosenblatt, D. S., Genest Jr., J., Rozen, R. Correlation of a common mutation in the methylenetetrahydrofolate reductase gene with plasma homocysteine in patients with premature coronary artery disease Arteriosclerosis Thrombosis and Vascular Biology 1997 17:569-573 PMID:9102178
- Ma, J., Stampfer, M. J., Hennekens, C. H., Frosst, P., Selhub, J., Horsford, J., Malinow, M. R., Willett, W. C., Rozen, R. Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in US Physicians Circulation 1996 94:2410-2416 PMID:8921781
- Frosst, P., Zhang, Z., Pai, A., Rozen, R. The methylenetetrahydrofolate reductase (Mthfr) gene maps to distal mouse chromosome 4 Mammalian Genome 1996 7:864-865 DOI:10.1007/s003359900255 PMID:8875901
- Kluijtmans, L. A. J., van den Heuvel, L. P. W. J., Boers, G. H. J., Frosst, P., Stevens, E. M. B., van Oost, B. A., den Heijer, M., Trijbels, F. J. M., Rozen, R., Blom, H. J. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease American Journal of Human Genetics 1996 58:35-41 PMID:8554066 PMCID:PMC1914961
- Frosst, P., Blom, H. J., Milos, R., Goyette, P., Sheppard, C. A., Matthews, R. G., Boers, G. J. H., den Heijer, M., Kluijtmans, L. A. J., Van den Heuvel, L. P., Rozen, R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase Nature Genetics 1995 10:111-113 DOI:10.1038/ng0595-111 PMID:7647779
- van der Put, N. M. J., Steegers-Theunissen, R. P. M., Frosst, P., Trijbels, F. J. M., Eskes, T. K. A. B., van den Heuvel, L. P., Mariman, E. C. M., den Heyer, M., Rozen, R., Blom, H. J. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida Lancet 1995 346:1070-1071 DOI:10.1016/s0140-6736(95)91743-8 PMID:7564788
- Goyette, P., Frosst, P., Rosenblatt, D. S., Rozen, R. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency American Journal of Human Genetics 1995 56:1052-1059 PMID:7726158 PMCID:PMC1801446