Vincent A Funari

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. ncbi request reprint Genes required for fructose metabolism are expressed in Purkinje cells in the cerebellum
    Vincent A Funari
    Department of Biology, Boston University, 5 Cummington Street, Boston, MA 02215, USA
    Brain Res Mol Brain Res 142:115-22. 2005
  2. pmc Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    BMC Genomics 8:165. 2007
  3. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
  4. pmc A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
    Stuart W Tompson
    Medical Genetics Institute, Steven Spielberg Building, Cedars Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:72-9. 2009
  5. pmc Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
    Amy E Merrill
    Medical Genetics Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:542-9. 2009
  6. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
  7. pmc The development of innate lymphoid cells requires TOX-dependent generation of a common innate lymphoid cell progenitor
    Corey R Seehus
    Research Division of Immunology, Departments of Biomedical Sciences and Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Nat Immunol 16:599-608. 2015
  8. pmc Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
    Stuart W Tompson
    Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, California, USA
    Am J Med Genet A 158:309-14. 2012
  9. doi request reprint The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)
    Stefan F Nemec
    International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA
    Pediatr Radiol 42:15-23. 2012
  10. pmc Disease gene characterization through large-scale co-expression analysis
    Allen Day
    Department of Human Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA
    PLoS ONE 4:e8491. 2009

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Genes required for fructose metabolism are expressed in Purkinje cells in the cerebellum
    Vincent A Funari
    Department of Biology, Boston University, 5 Cummington Street, Boston, MA 02215, USA
    Brain Res Mol Brain Res 142:115-22. 2005
    ..Cerebellum was used to oxidize fructose to carbon dioxide. Together, these data suggest that these neurons in the brain are able to utilize fructose as a carbon source...
  2. pmc Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    BMC Genomics 8:165. 2007
    ....
  3. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
    ..Phenotypic similarities between DSD and Bmper null mice indicate that BMPER-mediated signaling plays an essential role in vertebral segmentation early in human development...
  4. pmc A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
    Stuart W Tompson
    Medical Genetics Institute, Steven Spielberg Building, Cedars Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:72-9. 2009
    ..These findings identify an autosomal-recessive skeletal dysplasia and a significant role for the aggrecan C-type lectin domain in regulating endochondral ossification and, thereby, height...
  5. pmc Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
    Amy E Merrill
    Medical Genetics Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:542-9. 2009
    ..These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth...
  6. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
    ..This approach is being used by our group and others routinely and we are continuing to improve its performance...
  7. pmc The development of innate lymphoid cells requires TOX-dependent generation of a common innate lymphoid cell progenitor
    Corey R Seehus
    Research Division of Immunology, Departments of Biomedical Sciences and Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Nat Immunol 16:599-608. 2015
    ....
  8. pmc Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
    Stuart W Tompson
    Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, California, USA
    Am J Med Genet A 158:309-14. 2012
    ..These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2...
  9. doi request reprint The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)
    Stefan F Nemec
    International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA
    Pediatr Radiol 42:15-23. 2012
    ..This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene...
  10. pmc Disease gene characterization through large-scale co-expression analysis
    Allen Day
    Department of Human Genetics, Molecular Biology Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA
    PLoS ONE 4:e8491. 2009
    ..In the post genome era, a major goal of biology is the identification of specific roles for individual genes. We report a new genomic tool for gene characterization, the UCLA Gene Expression Tool (UGET)...
  11. pmc Mycobiome: Approaches to analysis of intestinal fungi
    Jie Tang
    Genomics Core, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA Department of Biomedical Sciences, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    J Immunol Methods 421:112-21. 2015
    ....
  12. pmc Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    Matthew J Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Nat Genet 40:999-1003. 2008
    ..This study thus defines a previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis...
  13. pmc Differentiation of human limbal-derived induced pluripotent stem cells into limbal-like epithelium
    Dhruv Sareen
    Regenerative Medicine Institute, Eye Program, and Departments of Biomedical Sciences, Neurosurgery, Genomics Core, and Surgery, Cedars Sinai Medical Center, Los Angeles, California, USA Norris Comprehensive Cancer Center Bioinformatics Core and Division of Hematology, University of Southern California, Los Angeles, California, USA David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA
    Stem Cells Transl Med 3:1002-12. 2014
    ..These data emphasize the importance of the natural niche and limbal tissue of origin in generating iPSCs as a LESC source with translational potential for LSCD treatment. ..
  14. pmc TOX3 is expressed in mammary ER(+) epithelial cells and regulates ER target genes in luminal breast cancer
    Akop Seksenyan
    Research Division of Immunology, Departments of Biomedical Sciences and Medicine, Cedars Sinai Medical Center, 8700 Beverly Blvd, Davis 5089, Los Angeles, 90048, CA, USA
    BMC Cancer 15:22. 2015
    ..Here we analyzed TOX3 expression in murine and human mammary glands and in molecular subtypes of breast cancer, and assessed its ability to alter the biology of breast cancer cells...
  15. pmc Differentially expressed wound healing-related microRNAs in the human diabetic cornea
    Vincent A Funari
    Genomics Core, Cedars Sinai Medical Center, Los Angeles, California, United States of America University of California Los Angeles, Los Angeles, California, United States of America
    PLoS ONE 8:e84425. 2013
    ..Two such miRNAs inhibited cultured corneal epithelial cell wound healing. Dysregulation of miRNA expression in human diabetic cornea may be an important mediator of abnormal wound healing...
  16. pmc Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis
    Iliyan D Iliev
    Inflammatory Bowel and Immunobiology Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Science 336:1314-7. 2012
    ....