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 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications12

  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 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...
  8. 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...
  9. 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)...
  10. 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...
  11. 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. ..
  12. 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
    ....