Stacie Loftus, Ph.D.

Associate Investigator, Genetic Disease Research Branch

Selected Publications

Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A, Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan WJ.  Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene. Science, 277:232-235. 1997. [PubMed]
 
Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF, Ohno K., Zeilger M, Carmi R, Solkol J, Markie D, O'Neil RR, Van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA.  Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science, 277:228-231. 1997. [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]

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]

Buac K, Watkins-Chow DE, Loftus SK, Larson DM, Incao A, Gibney G, Pavan WJ. A Sox10 expression screen identifies an amino acid essential for Erbb3 function. PLoS Genet, 4(9). 2008. [PubMed]

Antonellis A, Huynh JL, Lee-Lin SQ, Vinton RM, Renaud G, Loftus SK, Elliot G, Wolfsberg TG, Green ED, McCallion AS, Pavan WJ. Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish. PLoS Genet, 4(9). 2008. [PubMed]

Loftus SK, Antonellis A, Matera I, Renaud G, Baxter LL, Reid D, Wolfsberg TG, Chen Y, Wang C; NISC Comparative Sequencing Program, Prasad MK, Bessling SL, McCallion AS, Green ED, Bennett DC, Pavan WJ. Gpnmb is a Melanoblast-Expressed, MITF-Dependent Gene. Pigment Cell Melanoma Res, 22(1):99-110. 2009. [PubMed]

Cronin JC, Wunderlich J, Loftus SK, Prickett TD, Wei X, Ridd K, Vemula S, Burrell AS, Agrawal NS, Lin JC, Banister CE, Buckhaults P, Rosenberg SA, Bastian BC, Pavan WJ, Samuels Y. Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res, 22:435-444. 2009. [PubMed]

Loftus SK, Baxter LL, Buac K, Watkins-Chow DE, Larson DM, Pavan WJ. Comparison of melanoblast expression patterns identifies distinct classes of genes. Pigment Cell Melanoma Res, 22:611-622. 2009. [PubMed]

Stine ZE, Huynh JL, Loftus SK, Gorkin DG, Salmasi AH, Novak T, Purves T, Miller RA, Antonellis A, Gearhart JP, Pavan WJ, McCallion AS.  Oligodendroglial and Pan-neural Crest Expression of Cre Recombinase Directed by Sox10 Enhancer. Genesis, 11:765-770. 2009. [PubMed]
 
Prasad MK , Reed X, Gorkin DU, Cronin JC, McAdow AR, Chain K, Hodonsky CJ, Jones EA, J Svaren JP, Antonellis A, Johnson SL, Loftus SK, Pavan WJ, McCallion AS.  SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer. BMC Dev Biol, 11:40. 2011. [PubMed]
 
Gorkin DU, Lee D, Reed X, Fletez-Brant C, Bessling SL, Loftus SK, Beer MA, Pavan WJ, and McCallion AS. Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes. Genome Res  11:2290-301, 2012. Genome Res, 11:2290-301. 2012. [PubMed]
 
Cronin JC, Watkins-Chow DE, Incao A, Hasskamp JH, Schönewolf N, Aoude LG, Hayward NK, Bastian BC, Dummer R,Loftus SK, Pavan WJ.SOX10 Ablation Arrests Cell Cycle, Induces Senescence, and Suppresses Melanomagenesis. Cancer Res, 73:5709-18. 2013. [PubMed]
 
Praetorius C, Grill C, Stacey S, Metcalf A, Robinson KC, Gorkin D, Van Otterloo E, Kim RSQ, Mishra, Davis SR, Guo T, M. Zaidi R Sigurdsson MI, Melzer PS, Merlino G, Larue L, Loftus SK, Adams DR, Pavan WJ, McCallion A, Cornell R, Smith A, Fisher DE, Sturm RA, Steingrímsson E.  IRF4 affects human pigmentation by regulating expression of Tyrosinase through a MITF and TFAP2A-dependent pathway.  Cell, 155:1022-33. 2013. [PubMed]
 
Hwang HW, Baxter LL, Loftus SK, Cronin JC, Trivedi NS, Borate B, Pavan WJ.  Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A. (2014). Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A. Pigment Cell Melanoma Res, DOI: 10.1111/pcmr.12255. 2014. [PubMed]

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Last Reviewed: July 15, 2014