Research Topics
Genomes and Genes
| Stacie K LoftusSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
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Detail Information
Publications
SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancerMegana 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...- Comparison of melanoblast expression patterns identifies distinct classes of genesStacie 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.... - Gpnmb is a melanoblast-expressed, MITF-dependent geneStacie 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... - Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiencyStacie K Loftus
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
PLoS Genet 1:e38. 2005.... - A sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyIvana 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... - Genetic evidence does not support direct regulation of EDNRB by SOX10 in migratory neural crest and the melanocyte lineageRamin 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... - A Sox10 expression screen identifies an amino acid essential for Erbb3 functionKristina 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.... - Mutation of melanosome protein RAB38 in chocolate miceStacie 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... - Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafishAnthony 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... 
Complementation of melanocyte development in SOX10 mutant neural crest using lineage-directed gene transferLing 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...- Spotlight on spotted mice: a review of white spotting mouse mutants and associated human pigmentation disordersLaura 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... - Networks and pathways in pigmentation, health, and diseaseLaura 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... - Sox proteins in melanocyte development and melanomaMelissa 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... - Meeting report: 16th International Mouse Genome ConferenceStacie 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 - The pleiotropic mouse phenotype extra-toes spotting is caused by translation initiation factor Eif3c mutations and is associated with disrupted sonic hedgehog signalingDerek E Gildea
Institute for Biomedical Sciences, George Washington University, Washington, District of Columbia, USA
FASEB J 25:1596-605. 2011.... - Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgeneStacie 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.... - Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palateJennifer 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... - Frequent mutations in the MITF pathway in melanomaJulia 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...