L. Tyrrell

发表

Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.

D. Heitjan, X. Wang, B. Longley, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel NaV1.7 produce distinct pain disorders

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2010, Molecular pain.

Mutation I136V alters electrophysiological properties of the NaV1.7 channel in a family with onset of erythromelalgia in the second decade

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2008, Molecular pain.

Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy.

S. Dib-Hajj, S. Waxman, G. Lauria, 2014, Brain : a journal of neurology.

Two tetrodotoxin‐resistant sodium channels in human dorsal root ganglion neurons

S. Dib-Hajj, S. Waxman, J. A. Black, 1999, FEBS letters.

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Nav1.7 mutant channel

Yang Zhang, S. Dib-Hajj, S. Waxman, 2012, Nature Communications.

Localization of the tetrodotoxin‐resistant sodium channel NaN in nociceptors

S. Dib-Hajj, S. Waxman, J. Fjell, 2000, Neuroreport.

Malignant and normal T cells show random use of T-cell receptor alpha chain variable regions in patients with cutaneous T-cell lymphoma.

C. Berger, R. Tigelaar, L. Tyrrell, 1995, The Journal of investigative dermatology.

Functional role of the C‐terminus of voltage‐gated sodium channel Nav1.8

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2004, FEBS letters.

Murine Cutaneous Mastocytosis and Epidermal Melanocytosis Induced by Keratinocyte Expression of Transgenic Stem Cell Factor

S. Nishikawa, T. Kunisada, S. Hayashi, 1998, The Journal of experimental medicine.

Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable

S. Dib-Hajj, S. Waxman, M. Lawden, 2008, Molecular pain.

Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments.

Y. Ma, B. Longley, V. Klump, 1997, The Journal of investigative dermatology.

Chymase cleavage of stem cell factor yields a bioactive, soluble product.

R. Halaban, D. Williams, Y. Ma, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Nav1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons

Rachael K. Blackman, S. Dib-Hajj, S. Waxman, 2006, The Journal of Neuroscience.

Mexiletine-responsive erythromelalgia due to a new Nav1.7 mutation showing use-dependent current fall-off

S. Dib-Hajj, S. Waxman, Xiaoliang Wang, 2009, Experimental Neurology.

NaN, a novel voltage-gated Na channel, is expressed preferentially in peripheral sensory neurons and down-regulated after axotomy.

S. Dib-Hajj, S. Waxman, J. A. Black, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN.

S. Dib-Hajj, S. Waxman, M. Meisler, 1999, Genomics.

A new Nav1.7 sodium channel mutation I234T in a child with severe pain

C. Woods, S. Dib-Hajj, S. Waxman, 2010, European journal of pain.

A sodium channel gene SCN9A polymorphism that increases nociceptor excitability

S. Dib-Hajj, S. Waxman, T. Harty, 2009, Annals of neurology.

Contactin Associates with Sodium Channel Nav1.3 in Native Tissues and Increases Channel Density at the Cell Surface

A. M. Rush, S. Dib-Hajj, S. Waxman, 2004, The Journal of Neuroscience.

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.

S. Dib-Hajj, S. Waxman, K. Huehne, 2010, Brain : a journal of neurology.

Sporadic onset of erythermalgia: A gain‐of‐function mutation in Nav1.7

A. M. Rush, S. Dib-Hajj, S. Waxman, 2006, Annals of neurology.

Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm

Laura H. Tang, B. Longley, I. Modlin, 1996, Nature Genetics.

Size Matters: Erythromelalgia Mutation S241T in Nav1.7 Alters Channel Gating*

S. Dib-Hajj, S. Waxman, A. Lampert, 2006, Journal of Biological Chemistry.

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

A. M. Rush, S. Dib-Hajj, S. Waxman, 2005, Brain : a journal of neurology.

Altered metabolism of mast-cell growth factor (c-kit ligand) in cutaneous mastocytosis.

D. Williams, R. Halaban, B. Longley, 1993, The New England journal of medicine.

Pigmentation and Proliferation of Human Melanocytes and the Effects of Melanocyte‐Stimulating Hormone and Ultraviolet B Light a

R. Halaban, Y. Yarden, L. Tyrrell, 1993, Annals of the New York Academy of Sciences.

A channelopathy contributes to cerebellar dysfunction in a model of multiple sclerosis

S. Dib-Hajj, S. Waxman, S. Shields, 2012, Annals of neurology.

Transfection of rat or mouse neurons by biolistics or electroporation

S. Dib-Hajj, S. Waxman, T. Cummins, 2009, Nature Protocols.

Detection of specific mRNAs in routinely processed dermatopathology specimens.

L. Tyrrell, J. Longley, J. Elias, 1995, The American Journal of dermatopathology.

A Pore-blocking Hydrophobic Motif at the Cytoplasmic Aperture of the Closed-state Nav1.7 Channel Is Disrupted by the Erythromelalgia-associated F1449V Mutation*

S. Dib-Hajj, S. Waxman, B. Wallace, 2008, Journal of Biological Chemistry.

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

S. Dib-Hajj, S. Waxman, E. Eastman, 2009, Brain : a journal of neurology.

Nav1.7 is the predominant sodium channel in rodent olfactory sensory neurons

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2011, Molecular pain.

Changes in Expression of Two Tetrodotoxin-Resistant Sodium Channels and Their Currents in Dorsal Root Ganglion Neurons after Sciatic Nerve Injury But Not Rhizotomy

S. Dib-Hajj, S. Waxman, T. Cummins, 2000, The Journal of Neuroscience.

CAP-1A is a novel linker that binds clathrin and the voltage-gated sodium channel Nav1.8

S. Dib-Hajj, S. Waxman, T. Cummins, 2005, Molecular and Cellular Neuroscience.

Structure of the sodium channel gene SCN11A

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2002, Molecular Neurobiology.

Two Nedd4-binding Motifs Underlie Modulation of Sodium Channel Nav1.6 by p38 MAPK*

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2010, The Journal of Biological Chemistry.

Glycosylation Alters Steady-State Inactivation of Sodium Channel Nav1.9/NaN in Dorsal Root Ganglion Neurons and Is Developmentally Regulated

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2001, The Journal of Neuroscience.

ERK1/2 Mitogen-Activated Protein Kinase Phosphorylates Sodium Channel Nav1.7 and Alters Its Gating Properties

S. Dib-Hajj, S. Waxman, Séverine Stamboulian, 2010, The Journal of Neuroscience.

A new Nav1.7 mutation in an erythromelalgia patient.

S. Dib-Hajj, S. Waxman, M. Estacion, 2013, Biochemical and biophysical research communications.

Phosphorylation of Sodium Channel Nav1.8 by p38 Mitogen-Activated Protein Kinase Increases Current Density in Dorsal Root Ganglion Neurons

A. M. Rush, S. Dib-Hajj, S. Waxman, 2008, The Journal of Neuroscience.

Bridging the gaps : Special commentary An SCN 9 A variant , known to cause pain , is now found to cause itch

W. J., F. Reimann, I. Belfer, 2014 .

Differential modulation of sodium channel Nav1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily

A. M. Rush, S. Dib-Hajj, S. Waxman, 2006, The European journal of neuroscience.

Type 73 human papillomavirus in esophageal squamous cell carcinoma: A novel association

A. West, L. Tyrrell, J. Longley, 1996, Cancer.

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

S. Dib-Hajj, S. Waxman, A. Lampert, 2009, Biochemical and biophysical research communications.

Mutation I136V alters electrophysiological properties of the NaV1.7 channel in a family with onset of erythromelalgia in the second decade

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2008, Molecular pain.

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

S. Dib-Hajj, S. Waxman, J. Drenth, 2011, Brain : a journal of neurology.

Can robots patch‐clamp as well as humans? Characterization of a novel sodium channel mutation

S. Dib-Hajj, M. Estacion, L. Tyrrell, 2010, The Journal of physiology.

Mutation I136V alters electrophysiological properties of the NaV1.7 channel in a family with onset of erythromelalgia in the second decade

S. Dib-Hajj, L. Tyrrell, Xiaoyang Cheng, 2008, Molecular pain.

Molecular Contactin Associates with Sodium Channel Nav 1 . 3 in Native Tissues and Increases Channel Density at the Cell Surface

S. Dib-Hajj, S. Waxman, L. Tyrrell, 2004 .