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Home>Research>Intramural Research>Research Branches at NHGRI>Genetic Disease Research Branch>Loftus Lab >Loftus Publications
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Stacie Loftus, Ph.D.

Associate Investigator, Genetic Disease Research Branch

Selected Publications

Loftus S.K., Morris J.A., Carstea E.D., Gu J.Z., Cummings C., Brown A., Ellison J., Ohno K., Rosenfeld M.A., Tagle D.A., Pentchev P.G., Pavan W.J. Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277:232–235, 1997. [PubMed]

Loftus S.K., Chen Y., Gooden G., Ryan J.F., Birznieks G., Hilliard M., Baxevanis A.D., Bittner M., Meltzer P., Trent J., Pavan W.J. Informatic selection of a neural crest-melanocyte cDNA set for microarray analysis. Proc Natl Acad Sci U S A, 96:9277-9280. 1999. [PubMed]

Loftus S.K., Larson D.M., Watkins-Chow D., Church D.M., and Pavan W.J. Generation of RCAS vectors useful for functional genomic analyses. DNA Res, 8(5):221-6. 2001. [PubMed]

Loftus S.K., Erikcson R.P., Walkely S.U., Bryant M.A., Incao A., Heidenreich R.A. and Pavan W.J. Rescue of neurodegeneration in Niemann Pick-C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum Mol Genet, 11: 3107-3144. 2002. [PubMed]

Loftus S.K., Larson D.M., Baxter L.L., Antonellis A., Chen Y., Wu X., Bittner M, Hammer JA and Pavan WJ. Mutation of the melanosomal protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A, 99:4471-4476. 2002. [PubMed]

Rao C., Foernzler D., Loftus S.K., Liu S., McPherson J.D., Jungers K.A., Apte S.S., Pavan W.J., Beier D.R.. A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development, 30(19):4665-72. 2003. [PubMed]

Hou, L., Loftus, S. K., Incao, A., Chen, A., Pavan, W.J. Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer. Dev Dyn, 229: 54-62. 2004. [PubMed]

Loftus, S. K., Cannons, J. L., Incao, A., Pak, E., Chen, A., Zerfas, P. M., Bryant, M. A., Biesecker, L. G., Schwartzberg, P. L., Pavan, W. J. Acinar Cell Apoptosis in Serpini2-DeficientMice Models Pancreatic Insufficiency. PLoS Genet, 1(3):e38. 2005. [PubMed]

Hakami, R. M., Hou, L., Baxter, L., Loftus S. K. , Southard-Smith, M. Incao, A., Cheng, J. and Pavan W. P. Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage. Mech Dev, 123:124-34. 2006. [PubMed]

Matera, I., Watkins-Chow, D. E., Loftus, S.K., Hou, L., Incao, A., Silver, D. L., Rivas, C., Elliott, E. C,. Baxter, L. L., Pavan, W.J. A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy. Hum Mol Genet, 17: 2118-31. 2008. [PubMed]

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Last Updated: July 10, 2008



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