Sabrina W Yum

Summary

Affiliation: Drexel University College of Medicine
Country: USA

Publications

  1. doi request reprint A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy
    Sabrina W Yum
    Section of Neurology, St Christopher s Hospital For Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
    Ann Neurol 66:759-70. 2009
  2. ncbi request reprint Diverse trafficking abnormalities of connexin32 mutants causing CMTX
    Sabrina W Yum
    Division of Neurology, St Christopher s Hospital For Children, MCP Hahnemann University, Philadelphia, Pennsylvania 19134, USA
    Neurobiol Dis 11:43-52. 2002
  3. pmc Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
    Sabrina W Yum
    Division of Neurology, The Children s Hospital of Philadelphia, Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neurobiol Dis 38:226-36. 2010
  4. ncbi request reprint Human connexin26 and connexin30 form functional heteromeric and heterotypic channels
    Sabrina W Yum
    Section of Neurology, St Christopher s Hospital For Children, Erie Ave at Front St, Philadelphia, PA 19134, USA
    Am J Physiol Cell Physiol 293:C1032-48. 2007
  5. ncbi request reprint Aberrant connexin 43 and 26 expression in cervical dysplasia
    Ian S Hagemann
    Section of Surgical Pathology, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, Pennsylvania 19101, USA
    Anal Quant Cytol Histol 34:28-40. 2012
  6. ncbi request reprint Cellular mechanisms of connexin32 mutations associated with CNS manifestations
    Kleopas A Kleopa
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Neurosci Res 68:522-34. 2002

Collaborators

Detail Information

Publications6

  1. doi request reprint A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy
    Sabrina W Yum
    Section of Neurology, St Christopher s Hospital For Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA
    Ann Neurol 66:759-70. 2009
    ..To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments...
  2. ncbi request reprint Diverse trafficking abnormalities of connexin32 mutants causing CMTX
    Sabrina W Yum
    Division of Neurology, St Christopher s Hospital For Children, MCP Hahnemann University, Philadelphia, Pennsylvania 19134, USA
    Neurobiol Dis 11:43-52. 2002
    ..Thus, many CMTX mutants have trafficking abnormalities, whereas the carboxy-terminus mutants reach the cell membrane and probably cause disease through other mechanisms...
  3. pmc Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30
    Sabrina W Yum
    Division of Neurology, The Children s Hospital of Philadelphia, Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neurobiol Dis 38:226-36. 2010
    ..Furthermore, 8/9 Cx26 mutants inhibited the transfer of neurobiotin or calcein, indicating that these Cx26 mutants have trans-dominant effects on Cx30, an effect that may contribute to the pathogenesis of hearing loss...
  4. ncbi request reprint Human connexin26 and connexin30 form functional heteromeric and heterotypic channels
    Sabrina W Yum
    Section of Neurology, St Christopher s Hospital For Children, Erie Ave at Front St, Philadelphia, PA 19134, USA
    Am J Physiol Cell Physiol 293:C1032-48. 2007
    ..These results indicate that Cx26 and Cx30 form functional heteromeric and heterotypic channels, whose biophysical properties and permeabilities are different from their homotypic counterparts...
  5. ncbi request reprint Aberrant connexin 43 and 26 expression in cervical dysplasia
    Ian S Hagemann
    Section of Surgical Pathology, Department of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, 3400 Spruce Street, Philadelphia, Pennsylvania 19101, USA
    Anal Quant Cytol Histol 34:28-40. 2012
    ..To determine whether connexin (Cx) expression is altered in cervical dysplasia...
  6. ncbi request reprint Cellular mechanisms of connexin32 mutations associated with CNS manifestations
    Kleopas A Kleopa
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Neurosci Res 68:522-34. 2002
    ..These results indicate that Cx32 mutants that are associated with a CNS phenotype do not interact with Cx45, but may instead have other toxic effects in oligodendrocytes...