Sabrina W Yum
Affiliation: Drexel University College of Medicine
- A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathySabrina 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...
- Diverse trafficking abnormalities of connexin32 mutants causing CMTXSabrina 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...
- Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30Sabrina 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...
- Human connexin26 and connexin30 form functional heteromeric and heterotypic channelsSabrina 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...
- Aberrant connexin 43 and 26 expression in cervical dysplasiaIan 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...
- Cellular mechanisms of connexin32 mutations associated with CNS manifestationsKleopas 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...