Stacie K Loftus

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer
    Megana K Prasad
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    BMC Dev Biol 11:40. 2011
  2. pmc Comparison of melanoblast expression patterns identifies distinct classes of genes
    Stacie K Loftus
    National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD, USA
    Pigment Cell Melanoma Res 22:611-22. 2009
  3. pmc Gpnmb is a melanoblast-expressed, MITF-dependent gene
    Stacie K Loftus
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 22:99-110. 2009
  4. pmc Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Genet 1:e38. 2005
  5. pmc A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
    Ivana Matera
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 17:2118-31. 2008
  6. pmc Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage
    Ramin Mollaaghababa Hakami
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Mech Dev 123:124-34. 2006
  7. pmc Mutation of melanosome protein RAB38 in chocolate mice
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 99:4471-6. 2002
  8. pmc A Sox10 expression screen identifies an amino acid essential for Erbb3 function
    Kristina Buac
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 4:e1000177. 2008
  9. pmc Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish
    Anthony Antonellis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 4:e1000174. 2008
  10. ncbi request reprint Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer
    Ling Hou
    Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Dev Dyn 229:54-62. 2004

Collaborators

Detail Information

Publications19

  1. pmc SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer
    Megana K Prasad
    McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    BMC Dev Biol 11:40. 2011
    ..However, little is known about the sequences mediating transcriptional regulation of ERBB3 or the factors that bind them...
  2. pmc Comparison of melanoblast expression patterns identifies distinct classes of genes
    Stacie K Loftus
    National Institutes of Health, National Human Genome Research Institute, Genetic Disease Research Branch, Bethesda, MD, USA
    Pigment Cell Melanoma Res 22:611-22. 2009
    ....
  3. pmc Gpnmb is a melanoblast-expressed, MITF-dependent gene
    Stacie K Loftus
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 22:99-110. 2009
    ..Future analysis of the Gpnmb locus will provide insight into the transcriptional regulation of melanocytes, and Gpnmb expression can be used as a marker for analyzing melanocyte development and disease progression...
  4. pmc Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    PLoS Genet 1:e38. 2005
    ....
  5. pmc A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy
    Ivana Matera
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 17:2118-31. 2008
    ..This study demonstrates the feasibility of sensitized screens to identify disease modifier loci and implicates GLI3 and other HH signaling components as modifiers of human neurocristopathies...
  6. pmc Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineage
    Ramin Mollaaghababa Hakami
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Mech Dev 123:124-34. 2006
    ..Given that SOX10 directly activates Ednrb in the enteric nervous system, our results suggest that SOX10 may differentially activate target genes based on the particular cellular context...
  7. pmc Mutation of melanosome protein RAB38 in chocolate mice
    Stacie K Loftus
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 99:4471-6. 2002
    ..This study demonstrates the utility of expression profile analysis to identify mammalian disease genes...
  8. pmc A Sox10 expression screen identifies an amino acid essential for Erbb3 function
    Kristina Buac
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 4:e1000177. 2008
    ....
  9. pmc Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish
    Anthony Antonellis
    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 4:e1000174. 2008
    ..We demonstrate the utility of zebrafish transgenesis as a high-fidelity surrogate in the dissection of mammalian gene regulation, especially those with dynamically controlled developmental expression...
  10. ncbi request reprint Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transfer
    Ling Hou
    Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Dev Dyn 229:54-62. 2004
    ..This system will be useful for assessing genetic hierarchies in NC development. Developmental Dynamics 229:54-62, 2004...
  11. ncbi request reprint Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disorders
    Laura L Baxter
    Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Pigment Cell Res 17:215-24. 2004
    ..We describe our current understanding of how these genes function in development, and explore their complex roles regulating the various stages of melanocyte development...
  12. pmc SOX10 ablation arrests cell cycle, induces senescence, and suppresses melanomagenesis
    Julia C Cronin
    Authors Affiliations Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland Maryland Melanoma Center at Medstar Franklin Square Medical Center, Baltimore, Maryland Department of Dermatology, University Hospital of Zurich, Zurich, Switzerland Queensland Institute of Medical Research, Oncogenomics Laboratory, Brisbane, Australia and Helen Diller Family Comprehensive Cancer Center, UCSF, San Francisco, CA
    Cancer Res 73:5709-18. 2013
    ..As cell-cycle dysregulation is a core event in neoplastic transformation, the role for SOX10 in maintaining cell-cycle control in melanocytes suggests a rational new direction for targeted treatment or prevention of melanoma...
  13. pmc Sox proteins in melanocyte development and melanoma
    Melissa L Harris
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Pigment Cell Melanoma Res 23:496-513. 2010
    ..Improper regulation of SOX9 or SOX10 is also associated with cancerous transformation, and thus understanding the normal function of SOX proteins in the melanocyte will be key to revealing how these proteins contribute to melanoma...
  14. pmc Networks and pathways in pigmentation, health, and disease
    Laura L Baxter
    Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Wiley Interdiscip Rev Syst Biol Med 1:359-71. 2009
    ..In this review, the study of melanocyte development and pigmentation is considered as a candidate for systems biology-based analyses...
  15. ncbi request reprint Meeting report: 16th International Mouse Genome Conference
    Stacie K Loftus
    National Human Genome Research Institute, National Institutes of Health, Genetic Disease Research Branch, 49 Convent Dr, Building 49, Room 4A67, Bethesda, MD 20892, USA
    Mamm Genome 14:593-600. 2003
  16. pmc The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signaling
    Derek E Gildea
    Institute for Biomedical Sciences, George Washington University, Washington, District of Columbia, USA
    FASEB J 25:1596-605. 2011
    ....
  17. ncbi request reprint Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
    Stacie K Loftus
    National Human Genome Research Institute, Genetic Disease Research Branch, National Institutes of Health, 49 Convent Drive, Building 49, Bethesda, MD 20892, USA
    Hum Mol Genet 11:3107-14. 2002
    ....
  18. pmc Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate
    Jennifer J Johnston
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 86:743-8. 2010
    ..We conclude that massively parallel sequencing is useful to characterize large candidate linkage intervals and that it can be used successfully to allow identification of disease-causing gene mutations...
  19. pmc Frequent mutations in the MITF pathway in melanoma
    Julia C Cronin
    National Human Genome Research Institute, Bethesda, MD, USA
    Pigment Cell Melanoma Res 22:435-44. 2009
    ..Our findings suggest that altered MITF function during melanomagenesis can be achieved by MITF amplification, MITF single base substitutions or by mutation of its regulator SOX10...