S K Loftus

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi 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
  2. ncbi Generation of RCAS vectors useful for functional genomic analyses
    S K Loftus
    Mouse Embryology Section, Genetic Disease Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    DNA Res 8:221-6. 2001
  3. ncbi Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene
    S K Loftus
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Science 277:232-5. 1997
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Collaborators

  • Ling Hou
  • W J Pavan
  • J A Morris
  • K Ohno
  • E D Green
  • Y A Ioannou
  • M Elleder
  • M H Polymeropoulos
  • M T Vanier
  • Yingzi Yang
  • John A Hammer III
  • Leslie G Biesecker
  • D C Bennett
  • Laura L Baxter
  • Arturo Incao
  • Derek E Gildea
  • Ivana Matera
  • Dawn E Watkins-Chow
  • Kristina Buac
  • Anthony Antonellis
  • Ramin Mollaaghababa Hakami
  • Erin S Luetkemeier
  • Xiaozhong Bao
  • E D Carstea
  • Susan Mackem
  • Shih Queen Lee-Lin
  • Debra L Silver
  • Eugene C Elliott
  • Gene Elliot
  • Andrew S McCallion
  • Jimmy L Huynh
  • Denise M Larson
  • Gretchen Gibney
  • Shih-Queen Lee-Lin
  • Ryan M Vinton
  • Gabriel Renaud
  • Cecelia Rivas
  • Tyra G Wolfsberg
  • Jun Cheng
  • E Michelle Southard-Smith
  • M A Rosenfeld
  • C Cummings
  • D Zhang
  • P G Pentchev
  • D A Tagle
  • K G Coleman
  • J Z Gu
  • M E Higgins
  • R O Brady
  • A Brown
  • N K Dwyer
  • L Liscum
  • L Fandino
  • E J Blanchette-Mackie
  • J Sokol
  • M C Patterson
  • A Cooney
  • A M Cooney
  • E B Neufeld
  • D B Krizman
  • J Nagle
  • R R O'Neill
  • O P van Diggelen
  • D Markie
  • S L Sturley
  • M Comly
  • T Y Chang
  • J Gu
  • J F Strauss
  • M Zeigler
  • M E Comly
  • C Roff
  • C R Kaneski
  • R Carmi

Detail Information

Publications16

  1. ncbi 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
  2. ncbi Generation of RCAS vectors useful for functional genomic analyses
    S K Loftus
    Mouse Embryology Section, Genetic Disease Research Institute, National Institutes of Health, Bethesda, MD 20892 4472, USA
    DNA Res 8:221-6. 2001
    ..This is the first instance of site-specific recombination being used to generate retroviral gene constructs. These viral constructs will allow for the efficient transfer and expression of cDNAs needed for functional genomic analyses...
  3. ncbi Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene
    S K Loftus
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Science 277:232-5. 1997
    ..The mouse model may provide an important resource for studying the role of NPC1 in cholesterol homeostasis and neurodegeneration and for assessing the efficacy of new drugs for NP-C disease...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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
    ....
  9. ncbi 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...
  10. ncbi 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
    ....
  11. ncbi 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
    ....
  12. ncbi 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...
  13. ncbi 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
    ....
  14. ncbi Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis
    E D Carstea
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
    Science 277:228-31. 1997
    ....
  15. ncbi Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation
    J Z Gu
    Laboratory of Gene Transfer, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 94:7378-83. 1997
    ..This is the first demonstration of YAC complementation as a valuable adjunct strategy for positional cloning of a human gene...
  16. ncbi 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...