PMP22

Summary

Gene Symbol: PMP22
Description: peripheral myelin protein 22
Alias: CMT1A, CMT1E, DSS, GAS-3, HMSNIA, HNPP, Sp110, growth arrest-specific protein 3
Species: human

Top Publications

  1. ncbi Development and characteristics of a new strain of obese hyperinsulinemic and hyperlipidemic Dahl salt-sensitive rat. The Dahl salt-sensitive/NIH-corpulent rat
    O E Michaelis
    Beltsville Human Nutrition Research Center, ARS, USDA, MD 20705, USA
    Am J Hypertens 8:467-73. 1995
  2. ncbi Transgenic mouse models of CMT1A and HNPP
    U Suter
    Department of Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, Switzerland
    Ann N Y Acad Sci 883:247-53. 1999
  3. ncbi Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A
    J Perea
    Division of Biomedical Sciences, Imperial College School of Medicine, Sir Alexander Fleming Building, South Kensington, London SW7 2AZ, UK
    Hum Mol Genet 10:1007-18. 2001
  4. ncbi Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy
    J E Lane
    Division of Orthopaedic Surgery, Department of Surgery, Mercer University School of Medicine, The Medical Center of Central Georgia, Macon, GA 31207 0001, USA
    J Hand Surg Am 26:670-4. 2001
  5. ncbi Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
    Gerd Meyer zu Horste
    Department of Neurogenetics, Max Planck Institute of Experimental Medicine, University of Gottingen, Gottingen, Germany
    Ann Neurol 61:61-72. 2007
  6. ncbi Conformation of the transmembrane domains in peripheral myelin protein 22. Part 1. Solution-phase synthesis and circular dichroism study of protected 17-residue partial peptides in the first putative transmembrane domain
    K Yamada
    Department of Chemistry, Gunma University, Gunma 376 8515, Japan
    J Pept Res 62:78-87. 2003
  7. pmc PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins
    Jacob M Jones
    Dept of Biological Chemistry, The Johns Hopkins University School of Medicine, 725 North Wolfe Street, Baltimore, MD 21205, USA
    J Cell Biol 164:57-67. 2004
  8. pmc PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis
    K A Sacksteder
    Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Cell Biol 148:931-44. 2000
  9. ncbi Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
    U Suter
    Department of Cell Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich
    J Biol Chem 269:25795-808. 1994
  10. ncbi Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies
    Jun Li
    Department of Neurology, Wayne State University, 4201 St Antoine St, UHC 8D, Detroit, MI 48201, USA
    Arch Neurol 64:974-8. 2007

Research Grants

Detail Information

Publications175 found, 100 shown here

  1. ncbi Development and characteristics of a new strain of obese hyperinsulinemic and hyperlipidemic Dahl salt-sensitive rat. The Dahl salt-sensitive/NIH-corpulent rat
    O E Michaelis
    Beltsville Human Nutrition Research Center, ARS, USDA, MD 20705, USA
    Am J Hypertens 8:467-73. 1995
    A new congenic rat strain, the Dahl salt-sensitive/NIH-corpulent (DSS/N-cp) rat, has been developed to study the role of obesity and type of dietary carbohydrate in the development of hypertension and its complications...
  2. ncbi Transgenic mouse models of CMT1A and HNPP
    U Suter
    Department of Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, Switzerland
    Ann N Y Acad Sci 883:247-53. 1999
    We have generated several PMP22 animal mutants with altered PMP22 gene dosage...
  3. ncbi Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A
    J Perea
    Division of Biomedical Sciences, Imperial College School of Medicine, Sir Alexander Fleming Building, South Kensington, London SW7 2AZ, UK
    Hum Mol Genet 10:1007-18. 2001
    ..1A, a hereditary demyelinating neuropathy, is usually caused by overexpression of peripheral myelin protein 22 (PMP22) due to a genomic duplication...
  4. ncbi Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy
    J E Lane
    Division of Orthopaedic Surgery, Department of Surgery, Mercer University School of Medicine, The Medical Center of Central Georgia, Macon, GA 31207 0001, USA
    J Hand Surg Am 26:670-4. 2001
    Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent disorder of the peripheral nervous system characterized by reversible episodes of sensorimotor deficits after neural compression injuries...
  5. ncbi Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy
    Gerd Meyer zu Horste
    Department of Neurogenetics, Max Planck Institute of Experimental Medicine, University of Gottingen, Gottingen, Germany
    Ann Neurol 61:61-72. 2007
    Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy, and a duplication of the Pmp22 gene causes the most frequent subform CMT1A...
  6. ncbi Conformation of the transmembrane domains in peripheral myelin protein 22. Part 1. Solution-phase synthesis and circular dichroism study of protected 17-residue partial peptides in the first putative transmembrane domain
    K Yamada
    Department of Chemistry, Gunma University, Gunma 376 8515, Japan
    J Pept Res 62:78-87. 2003
    ..DNA duplication and point mutation of the gene encoding peripheral myelin protein 22 (PMP22) have been found in CMT type 1A dominants...
  7. pmc PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins
    Jacob M Jones
    Dept of Biological Chemistry, The Johns Hopkins University School of Medicine, 725 North Wolfe Street, Baltimore, MD 21205, USA
    J Cell Biol 164:57-67. 2004
    ....
  8. pmc PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis
    K A Sacksteder
    Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Cell Biol 148:931-44. 2000
    ..This hypothesis is supported by the observation that the loss of PEX19 results in degradation of PMPs and/or mislocalization of PMPs to the mitochondrion...
  9. ncbi Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
    U Suter
    Department of Cell Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich
    J Biol Chem 269:25795-808. 1994
    Mutations affecting the peripheral myelin protein-22 (PMP22) gene have been shown to be associated with inherited peripheral neuropathies...
  10. ncbi Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies
    Jun Li
    Department of Neurology, Wayne State University, 4201 St Antoine St, UHC 8D, Detroit, MI 48201, USA
    Arch Neurol 64:974-8. 2007
    ..4-megabase deletion at chromosome 17p11.2, which bears the PMP22 gene and other genes. However, whether other genes besides PMP22 contribute to the phenotype is unknown...
  11. ncbi The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
    L J Valentijn
    Department of Neurology, Academical Medical Center, Amsterdam, The Netherlands
    Nat Genet 1:166-70. 1992
    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2...
  12. ncbi Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation
    Guya Giambonini-Brugnoli
    Institute for Cell Biology, Department of Biology, ETH Honggerberg, Swiss Federal Institute of Technology, Schafmattstrasse 18, CH 8093 Zurich, Switzerland
    Neurobiol Dis 18:656-68. 2005
    Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies...
  13. ncbi DNA deletion associated with hereditary neuropathy with liability to pressure palsies
    P F Chance
    Department of Pediatrics, University of Utah Medical Center, Salt Lake City 84132
    Cell 72:143-51. 1993
    ..5 Mb and includes all markers that are known to map within the Charcot-Marie-Tooth neuropathy type 1A (CMT1A) duplication. Furthermore, the breakpoints in HNPP and CMT1A map to the same intervals in 17p11...
  14. ncbi The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
    P I Patel
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Nat Genet 1:159-65. 1992
    Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a large DNA duplication on the short arm of human chromosome 17...
  15. ncbi Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina
    Stephanie A Amici
    Department of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, Florida 32610 0244, USA
    J Neurosci 26:1179-89. 2006
    Peripheral myelin protein 22 (PMP22) is a tetraspan membrane glycoprotein, the misexpression of which is associated with hereditary demyelinating neuropathies...
  16. ncbi DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    J R Lupski
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
    Cell 66:219-32. 1991
    Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A...
  17. ncbi Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group
    P Raeymaekers
    Born Bunge Foundation, Department of Biochemistry, University of Antwerp UIA, Belgium
    Neuromuscul Disord 1:93-7. 1991
    ..These findings led us to propose that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed...
  18. ncbi The peripheral myelin protein 22 and epithelial membrane protein family
    A M Jetten
    Cell Biology Section, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
    Prog Nucleic Acid Res Mol Biol 64:97-129. 2000
    The peripheral myelin protein 22 (PMP22) and the epithelial membrane proteins (EMP-1, -2, and -3) comprise a subfamily of small hydrophobic membrane proteins...
  19. ncbi [A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12]
    M Inoue
    Department of Pediatrics, Yamada Red Cross Hospital, Mie
    No To Hattatsu 31:452-7. 1999
    Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A including sporadic cases have been found to have a 1...
  20. ncbi The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily
    T P Burris
    Department of Pediatrics, UCLA School of Medicine 90024, USA
    Recent Prog Horm Res 51:241-59; discussion 259-60. 1996
    ..cloning methods and has been named DAX-1 based on its localization within the dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome. The DAX-1 gene consists of two exons separated by a 3.4 kb intron...
  21. ncbi Regulation of myelin-specific gene expression. Relevance to CMT1
    J Kamholz
    Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Ann N Y Acad Sci 883:91-108. 1999
    ..Point mutlations in the genes encoding the myelin proteins PMP22 and P0 cause CMT1A without a gene duplication and CMT1B, respectively...
  22. ncbi Aberrant crypt foci in the colonic mucosa of rats treated with a genotoxic and nongenotoxic colon carcinogen
    L O Whiteley
    Procter and Gamble, Cincinnati, Ohio 45253, USA
    Toxicol Pathol 24:681-9. 1996
    ..Six-wk-old Fischer-344 rats were administered dextran sulfate (DSS, nongenotoxin) in the drinking water or azoxymethane (AOM, genotoxin) by single subcutaneous injection...
  23. pmc Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice
    Sunitha Rangaraju
    Department of Neuroscience and Anatomy, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, Florida 32610, USA
    J Neurosci 30:11388-97. 2010
    Misexpression and cytosolic retention of peripheral myelin protein 22 (PMP22) within Schwann cells (SCs) is associated with a genetically heterogeneous group of demyelinating peripheral neuropathies...
  24. pmc Immunomodulation in the treatment of multiple sclerosis and amyotrophic lateral sclerosis: a model for autoimmune disorders
    K Alonso
    Institute for Advanced Studies in Medicine, Atlanta, Georgia, USA
    J Natl Med Assoc 87:561-8. 1995
    ..therapy (average treatment duration: 3 years) with performance status 3-4 (mean Disability Status Scale [DSS]: 82) who demonstrated circulating lymphokine inhibitor factors were selected for a monthly immunomodulatory ..
  25. ncbi Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients
    Naoki Hattori
    Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
    Brain 126:134-51. 2003
    ..commonly causing Charcot-Marie-Tooth disease (CMT) encode myelin-related proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32)...
  26. doi Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial
    Joshua Burns
    Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, and Institute for Neuromuscular Research, Children s Hospital at Westmead, Sydney, NSW, Australia
    Lancet Neurol 8:537-44. 2009
    ..by peripheral nerve demyelination, weakness, and impaired motor function and is caused by the duplication of PMP22, the gene that encodes peripheral myelin protein 22...
  27. doi Natural history and treatment of peripheral inherited neuropathies
    Davide Pareyson
    IRCCS Foundation, C Besta Neurological Institute, Via Celoria 11, 20133, Milan, Italy
    Adv Exp Med Biol 652:207-24. 2009
    ..is focused on possible modifier factors particularly in CMT1A associated with Peripheral Myelin Protein 22 (PMP22) overexpression...
  28. doi Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene
    Federica Taioli
    Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, 37134 Verona, Italy
    Brain 134:608-17. 2011
    The peripheral myelin protein 22 gene (PMP22) encodes an intrinsic membrane protein of compact myelin...
  29. doi Clinical progression in Charcot-Marie-Tooth disease type 1A duplication: clinico-electrophysiological and MRI longitudinal study of a family
    Jose Berciano
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, University of Cantabria and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, 39008, Santander, Spain
    J Neurol 257:1633-41. 2010
    Long-term follow-up studies in Charcot-Marie-Tooth disease type 1 duplication (CMT1A) are scanty. Here we describe a longitudinal study in a CMT1A pedigree...
  30. ncbi Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs
    C O Hanemann
    Department of Neurology, Heinrich Heine University, Dusseldorf, Germany
    Acta Neuropathol 94:310-5. 1997
    ..CMT1A) is a common hereditary demyelinating neuropathy caused by a duplication of the gene for the myelin protein PMP22, resulting in overexpression of PMP22 in young patients...
  31. ncbi The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease
    Elena Sinkiewicz-Darol
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland
    Acta Biochim Pol 57:373-7. 2010
    ..The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively...
  32. pmc The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes
    K Inoue
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genome Res 11:1018-33. 2001
    ..A gene within the 1.4-Mb region, PMP22, is responsible for these disorders through a gene-dosage effect in the heterozygous duplication or deletion...
  33. ncbi Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A
    S Sancho
    Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, Switzerland
    Brain 124:2177-87. 2001
    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by an increased dosage of the peripheral myelin protein 22 (PMP22) gene or by point mutations affecting the same gene...
  34. ncbi Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs
    P Seeman
    Department of Child Neurology, 2nd School of Medicine, Charles University Prague, 150 06 Praha 5, Czech Republic
    Int J Mol Med 6:421-6. 2000
    ..A submicroscopic tandem duplication of 1. 5 Mb in chromosome 17p11.2-12 comprising the PMP22 gene is found in 70.7% of autosomal dominant Charcot-Marie-Tooth type 1 (CMT1) patients...
  35. doi Neuropathy progression in Charcot-Marie-Tooth disease type 1A
    M E Shy
    Wayne State University, Department of Neurology, Center for Molecular Medicine and Genetics, 421 Ea Canfield, Detroit, MI 48201, USA
    Neurology 70:378-83. 2008
    To determine the rate of disease progression in Charcot-Marie-Tooth disease type 1A (CMT1A).
  36. ncbi Polymorphic short tandem repeats for diagnosis of the Charcot-Marie-Tooth 1A duplication
    P Latour
    Unité de Neurogénétique Moléculaire, Laboratoire de Biochimie, hôpital de l Antiquaille, F 69005 Lyon, France
    Clin Chem 47:829-37. 2001
    A 1.5-Mb microduplication containing the gene for peripheral myelin protein 22 (PMP22) on chromosome 17p11.2-12 is responsible for 75% of cases of the demyelinating form of Charcot-Marie-Tooth disease (CMT1A)...
  37. ncbi PMP22 Thr118Met is not a clinically relevant CMT1 marker
    P Young
    Institute of Cell Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich
    J Neurol 247:696-700. 2000
    It is controversial if peripheral myelin protein 22 gene (PMP22) Thr118Met represents a functionally irrelevant polymorphism or, since hemizygosity for this variant has been found in two patients with Charcot-Marie-Tooth disease type 1 (..
  38. ncbi Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test
    J G Chang
    Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    Clin Chem 44:270-4. 1998
    A 1.5-Mb duplication on chromosome 17p11.2-p12 (CMT1A duplication) caused by a misalignment of the CMT1A repeat sequences (CMT1A-REPs) is associated with Charcot-Marie-Tooth disease type 1A (CMT1A)...
  39. pmc Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease
    Jia Huang
    Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
    J Neurol 257:735-41. 2010
    ..5 Mb chromosomal duplication at 17p12 that contains the gene PMP22. Only recently it has been realized that such copy number variants (CNV) are a widespread phenomenon and important ..
  40. pmc Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability
    Feng Zhang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 86:892-903. 2010
    Genomic rearrangements involving the peripheral myelin protein gene (PMP22) in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary ..
  41. ncbi Expression pattern of the peripheral myelin protein 22kDa (PMP22) in neural and non-neural tissue types of adult wildtype and Trembler mice--a comparative study
    B Rautenstrauss
    Institute of Human Genetics, Friedrich Alexander Universitat Erlangen Nurnberg, Germany
    J Peripher Nerv Syst 3:117-24. 1998
    ..In Trembler mouse a Gly150Asp amino acid exchange in the peripheral myelin protein 22kDa (PMP22) gene was identified as causative reason for this hypertrophic neuropathy...
  42. ncbi Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development
    D Baechner
    Institute for Medical Genetics, Erlangen, Germany
    J Neurosci Res 42:733-41. 1995
    The gene encoding the peripheral myelin protein PMP22 is affected by various mutations in the hereditary peripheral neuropathies Charcot-Marie-Tooth disease type 1A (CMT1A), Déjérine-Sottas syndrome (DSS) and hereditary neuropathy with ..
  43. ncbi Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele
    K Adlkofer
    Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, Zurich
    J Neurosci Res 49:671-80. 1997
    ..5 megabase duplication on chromosome 17p.11.2 containing the peripheral myelin protein 22 (PMP22) gene...
  44. doi Diabetes mellitus exacerbates motor and sensory impairment in CMT1A
    Soham Sheth
    Department of Neurology, Wayne State University, Detroit, MI 48201, USA
    J Peripher Nerv Syst 13:299-304. 2008
    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by a duplication of PMP22 on chromosome 17 and is the most commonly inherited demyelinating neuropathy. Diabetes frequently causes predominantly sensory neuropathy...
  45. doi Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region
    Simona De Toffol
    Unit of Research and Development, Cytogenetics, and Molecular Biology, TOMA Advanced Biomedical Assays SpA, Busto Arsizio, Varese, Italy
    Genet Test Mol Biomarkers 14:225-31. 2010
    ..The subtype 1A (CMT1A) is caused by a tandem duplication of a 1.5-Mb region encompassing the PMP22 gene...
  46. ncbi Molecular basis of hereditary neuropathies
    P F Chance
    Neurogenetics Laboratory, Division of Genetics and Development, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA
    Phys Med Rehabil Clin N Am 12:277-91. 2001
    ..2-12, or in rare patients may result from a point mutation in the peripheral myelin protein-22 (PMP22) gene. CMT1B is associated with point mutations in the myelin protein zero (P0 or MPZ) gene...
  47. ncbi Epithelial membrane protein-2 and epithelial membrane protein-3: two novel members of the peripheral myelin protein 22 gene family
    V Taylor
    Department of Cell Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, Switzerland
    Gene 175:115-20. 1996
    Peripheral myelin protein 22 (PMP22) is expressed by Schwann cells in the peripheral nervous system (PNS), and mutations affecting the PMP22 gene are associated with hereditary motor and sensory neuropathies...
  48. ncbi Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage
    J P Magyar
    Department of Cell Biology, Swiss Federal Institute of Technology, ETH Hoenggerberg, Zurich, Switzerland
    J Neurosci 16:5351-60. 1996
    An intrachromosomal duplication containing the PMP22 gene is associated with the human hereditary peripheral neuropathy Charcot-Marie-Tooth disease type 1A, and PMP22 overexpression as a consequence of increased PMP22 gene dosage has ..
  49. ncbi Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family
    V Taylor
    Department of Cell Biology, Swiss Federal Institute of Technology, ETH Honggerberg, Zurich, Switzerland
    J Biol Chem 270:28824-33. 1995
    Peripheral myelin protein 22 (PMP22) is expressed in many tissues but mainly by Schwann cells as a component of compact myelin of the peripheral nervous system (PNS)...
  50. ncbi Practice patterns for prostate cancer in nine central and northern Italy radiation oncology centers: a survey including 1759 patients treated during two decades (1980-1998)
    Stefano Maria Magrini
    Department of Radiation Oncology, Istituto del Radio, O Alberti Brescia University, Brescia, Italy
    Int J Radiat Oncol Biol Phys 52:1310-9. 2002
    ....
  51. pmc Can clinical trials requiring frequent participant contact be conducted over the Internet? Results from an online randomized controlled trial evaluating a topical ointment for herpes labialis
    Margaret Formica
    Division of Rheumatology, Tufts New England Medical Center, Box 406, 750 Washington Street, Boston, MA 02111, USA
    J Med Internet Res 6:e6. 2004
    ..An Internet-based randomized clinical trial design may reduce this burden, permitting frequent symptom reports with considerably less effort...
  52. ncbi Lactobacillus casei secreting alpha-MSH induces the therapeutic effect on DSS-induced acute colitis in Balb/c Mice
    Sun Woo Yoon
    Mucosal Immunology Laboratory, BioNanotechnology Research Center, Korea Research Institute of Bioscience and Biotechnology KRIBB, Daejon 305 600, Korea
    J Microbiol Biotechnol 18:1975-83. 2008
    ..casei-alpha-MSH), on dextran sulfate sodium (DSS)-induced colitis in Balb/c mice...
  53. pmc Global gene expression analysis of the mouse colonic mucosa treated with azoxymethane and dextran sodium sulfate
    Rikako Suzuki
    Department of Oncologic Pathology, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Ishikawa, Japan
    BMC Cancer 7:84. 2007
    ....
  54. pmc The first major outbreak of dengue hemorrhagic fever in Delhi, India
    L Dar
    All India Institute of Medical Sciences, Ansari Nagar, New Delhi
    Emerg Infect Dis 5:589-90. 1999
    India An outbreak of dengue hemorrhagic fever/dengue shock syndrome (DHS/DSS) occurred in 1996 in India in and near Delhi...
  55. ncbi Activation of toll-like receptor 3 protects against DSS-induced acute colitis
    Matam Vijay-Kumar
    Department of Pathology and Laboratory Medicine, Epithelial Pathobiology Unit, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Inflamm Bowel Dis 13:856-64. 2007
    ....
  56. ncbi [Economic impact of dengue and dengue hemorrhagic fever in the State of Zulia, Venezuela, 1997-2003]
    Germán Añez
    Seccion de Virologia, Instituto de Investigaciones Clinicas Dr Americo Negrette, Facultad de Medicina, Universidad del Zulia, Maracaibo, Estado Zulia, Venezuela
    Rev Panam Salud Publica 19:314-20. 2006
    To determine the direct and indirect costs of medical care provided to cases of dengue and dengue hemorrhagic fever/dengue shock syndrome (DHF/DSS) between 1997 and 2003 in Zulia State, Venezuela.
  57. ncbi Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal
    T Ogata
    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
    Acta Paediatr Jpn 38:390-8. 1996
    The present review article summarizes current knowledge concerning the sex determining gene on Xp21, termed DSS (dosage sensitive sex reversal)...
  58. ncbi Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy
    Phillip F Chance
    Division of Genetics and Developmental Medicine, Children s Hospital and Regional Medical Center, Department of Pediatrics, University of Washington School of Medicine, Box 356320, Room RR247, Seattle, Washington 98195, USA
    Neuromolecular Med 8:159-74. 2006
    ..A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region...
  59. ncbi Dysplasia and cancer in the dextran sulfate sodium mouse colitis model. Relevance to colitis-associated neoplasia in the human: a study of histopathology, B-catenin and p53 expression and the role of inflammation
    H S Cooper
    Department of Pathology, Fox Chase Cancer Center, 7701 Burholme Avenue, Philadelphia, PA 19111, USA
    Carcinogenesis 21:757-68. 2000
    ..the histopathology and inflammation scores as they relate to dysplasia and cancer in the dextran sulfate sodium (DSS) colitis model...
  60. ncbi Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves
    Marcel Maier
    Institute of Cell Biology, Department of Biology, Swiss Federal Institute of Technology, ETH Honggerberg, CH 8093 Zurich, Switzerland
    Mol Cell Neurosci 20:93-109. 2002
    Minor changes in PMP22 gene dosage have profound effects on the development and maintenance of peripheral nerves...
  61. pmc Conduction block in PMP22 deficiency
    Yunhong Bai
    Department of Neurology, Wayne State University, Detroit, Michigan, USA
    J Neurosci 30:600-8. 2010
    Patients with PMP22 deficiency present with focal sensory and motor deficits when peripheral nerves are stressed by mechanical force...
  62. pmc Protective and enhancing HLA alleles, HLA-DRB1*0901 and HLA-A*24, for severe forms of dengue virus infection, dengue hemorrhagic fever and dengue shock syndrome
    Thi Phuong Lan Nguyen
    Department of Immunogenetics, Institute of Tropical Medicine NEKKEN, Nagasaki University, Japan
    PLoS Negl Trop Dis 2:e304. 2008
    ..Recently, the severe forms, dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS), have become the leading cause of death among children in Southern Vietnam...
  63. pmc Prediction of drug disposition in infants and children by means of physiologically based pharmacokinetic (PBPK) modelling: theophylline and midazolam as model drugs
    Sven Björkman
    Hospital Pharmacy, Malmo University Hospital, Malmö and Division of Pharmacokinetics and Drug Therapy, Department of Pharmaceutical Biosciences, Uppsala University, Uppsala, Sweden
    Br J Clin Pharmacol 59:691-704. 2005
    ..To create a general physiologically based pharmacokinetic (PBPK) model for drug disposition in infants and children, covering the age range from birth to adulthood, and to evaluate it with theophylline and midazolam as model drugs...
  64. doi Alternate hypothesis on the pathogenesis of dengue hemorrhagic fever (DHF)/dengue shock syndrome (DSS) in dengue virus infection
    Sansanee Noisakran
    Medical Biotechnology Unit, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency, Pathumthani, 12120, Thailand
    Exp Biol Med (Maywood) 233:401-8. 2008
    ..are 200,000 to 500,000 cases of potential life-threatening dengue hemorrhagic fever (DHF)/dengue shock syndrome (DSS), characterized by thrombocytopenia and increased vascular permeability...
  65. pmc A gamma-tocopherol-rich mixture of tocopherols inhibits colon inflammation and carcinogenesis in azoxymethane and dextran sulfate sodium-treated mice
    Jihyeung Ju
    Susan Lehman Cullman Laboratory for Cancer Research, Department of Chemical Biology, and Center for Cancer Prevention Research, Ernest Mario School of Pharmacy, Rutgers, The State University of New Jersey, Piscataway, New Jersey, USA
    Cancer Prev Res (Phila) 2:143-52. 2009
    ..57% gamma-T, 24% delta-T, and 13% alpha-T) on colon carcinogenesis in azoxymethane (AOM)/dextran sulfate sodium (DSS)-treated mice. In experiment 1, 6-week-old male CF-1 mice were given a dose of AOM (10 mg/kg body weight, i.p...
  66. ncbi Dextran sulfate sodium enhances interleukin-1 beta release via activation of p38 MAPK and ERK1/2 pathways in murine peritoneal macrophages
    Ki Han Kwon
    Division of Food Science and Biotechnology, Graduate School of Agriculture, Kyoto University, Kyoto 606 8502, Japan
    Life Sci 81:362-71. 2007
    ..We investigated dextran sulfate sodium (DSS)-induced IL-1 beta production and caspase-1 activities in murine peritoneal macrophages (pM phi)...
  67. pmc Sp110 transcription is induced and required by Anaplasma phagocytophilum for infection of human promyelocytic cells
    Jose De La Fuente
    Department of Veterinary Pathobiology, Center for Veterinary Health Sciences, Oklahoma State University, Stillwater, OK 74078, USA
    BMC Infect Dis 7:110. 2007
    ..The human Sp110 gene is a member of the nuclear body (NB) components that functions as a nuclear hormone receptor transcriptional ..
  68. doi Granulocyte-macrophage colony-stimulating factor elicits bone marrow-derived cells that promote efficient colonic mucosal healing
    Eric Bernasconi
    Division of Gastroenterology and Hepatology, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Switzerland
    Inflamm Bowel Dis 16:428-41. 2010
    ..in treating some Crohn's disease (CD) patients and protects mice from colitis induced by dextran sulfate sodium (DSS) administration. However, its mechanisms of action remain elusive...
  69. ncbi Proteus mirabilis sp. intestinal microflora grow in a dextran sulfate sodium-rich environment
    Yoshio Araki
    Department of Pathology, Shiga University of Medical Science, Otsu, Shiga 520 2192, Japan
    Int J Mol Med 25:203-8. 2010
    ..As an animal model, the oral administration of dextran sulfate sodium (DSS) induces colitis, which exhibits several clinical and histological features similar to UC...
  70. ncbi Natural history of human T-lymphotropic virus 1-associated myelopathy: a 14-year follow-up study
    Stephane Olindo
    Department of Neurology, University Hospital of Fort de France, Fort de France, Martinique
    Arch Neurol 63:1560-6. 2006
    ..The progression of neurological disability in human T-lymphotropic virus 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) remains undefined...
  71. ncbi Differential susceptibility of inbred mouse strains to dextran sulfate sodium-induced colitis
    M Mahler
    Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Am J Physiol 274:G544-51. 1998
    Dextran sulfate sodium (DSS)-induced murine colitis represents an experimental model for human inflammatory bowel disease...
  72. ncbi Localization and functional roles of PMP22 in peripheral nerves of P0-deficient mice
    S Carenini
    Department of Neurobiology, Swiss Federal Institute of Technology, Honggerberg, Zurich, Switzerland
    Glia 28:256-64. 1999
    ..We show by postembedding immunoelectron microscopy that PMP22 is expressed in both noncompacted and abnormally compacted myelin-like regions of P0(-) mice...
  73. ncbi Prognostic factors in patients with carcinoma of the uterine cervix treated with external beam irradiation and IR-192 high-dose-rate brachytherapy
    K S Kapp
    Department of Radiology, Karl Franzens University Medical School, Graz, Austria
    Int J Radiat Oncol Biol Phys 42:531-40. 1998
    ..This study investigates pretreatment and treatment factors for their correlation with treatment outcome after EBR and HDR-ICP...
  74. ncbi Enhanced intestinal inflammation induced by dextran sulfate sodium in tumor necrosis factor-alpha deficient mice
    Yuji Naito
    First Department of Medicine, Kyoto Prefectural University of Medicine, Kamigyo ku, Kyoto, Japan
    J Gastroenterol Hepatol 18:560-9. 2003
    ..To further define the role of TNF-alpha in intestinal inflammation, we studied the effects of dextran sulfate sodium (DSS) administration in mice with targeted deletions of TNF-alpha gene.
  75. ncbi Estrogen and angiotensin II interactions determine cardio-renal damage in Dahl salt-sensitive rats with heart failure
    Rie Hoshi-Fukushima
    Department of Nephrology, Saitama Medical University, Saitama, Japan
    Am J Nephrol 28:413-23. 2008
    ..The present study attempted to elucidate the relationship between the process of cardiac remodeling and nephrosclerosis in ovariectomized Dahl salt-sensitive (DSS) rats with myocardial infarction (MI).
  76. pmc Increased CYP4B1 mRNA is associated with the inhibition of dextran sulfate sodium-induced colitis by caffeic acid in mice
    Zhong Ye
    The Iowa State University, Department of Food Science and Human Nutrition, 224D MacKay, Ames, IA 50011, USA
    Exp Biol Med (Maywood) 234:605-16. 2009
    ..25% dextran sulfate sodium (DSS) for 6 d in their drinking water. Rutin (1.0 mmol (524 mg)/kg in diet), caffeic acid (1...
  77. ncbi The impact of a program for strengthening dengue hemorrhagic fever case management on the clinical outcome of dengue hemorrhagic fever patients
    Saengdao Mayurasakorn
    Pediatric Department, Buri Ram Hospital, Thailand
    Southeast Asian J Trop Med Public Health 41:858-63. 2010
    This study compared the case fatality ratio (CFR) of dengue shock syndrome (DSS) patients admitted to Buri Ram Hospital, an area with CFR of 0.11, 0.43 and 0...
  78. doi SP110 as a novel susceptibility gene for Mycobacterium avium subspecies paratuberculosis infection in cattle
    O Ruiz-Larrañaga
    Genetics, Physical Anthropology, and Animal Physiology Department, University of the Basque Country, Sarriena s n, 48940 Leioa, Bizkaia, Spain
    J Dairy Sci 93:5950-8. 2010
    ..innate immunity in a mouse model of Mycobacterium tuberculosis infection, and polymorphisms of its human ortholog, SP110 nuclear body protein, have been suggested to be associated with tuberculosis...
  79. pmc Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22
    Erin A Jones
    Program in Cellular and Molecular Biology, University of Wisconsin, Madison, WI 53705, USA
    Hum Mol Genet 21:1581-91. 2012
    ..potentials, and proper myelination requires the precise regulation of genes encoding myelin proteins, including PMP22. The correct gene dosage of PMP22 is critical; a duplication of PMP22 is the most common cause of the peripheral ..
  80. doi New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication
    Jose Berciano
    Service of Neurology, University Hospital Marqués de Valdecilla IFIMAV, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas CIBERNED, University of Cantabria UC, 39008 Santander, Spain
    J Neurol 258:1594-602. 2011
    ..This review is focused on the pathophysiology of pes cavus in CMT1A duplication, which is the most common subtype of the disease...
  81. ncbi The relationship between the concentration of dextran sodium sulfate and the degree of induced experimental colitis in weanling rats
    Toshiaki Shimizu
    Department of Pediatrics, Juntendo University School of Medicine, Tokyo, Japan
    J Pediatr Gastroenterol Nutr 37:481-6. 2003
    Although a dextran sodium sulfate (DSS)-induced colitis is commonly used as an ulcerative colitis (UC) model in adult rodents, there are no studies using this model in young animals...
  82. doi Westernized high-fat diet accelerates weight loss in dextran sulfate sodium-induced colitis in mice, which is further aggravated by supplementation of heme
    Elise M J van der Logt
    Department of Gastroenterology and Hepatology, University Medical Center Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands
    J Nutr Biochem 24:1159-65. 2013
    ..a westernized high-fat (HF) diet supplemented with heme on intestinal HO-1 expression and dextran sulfate sodium (DSS)-induced colitis. Mice were fed chow or HF diets for 2 weeks...
  83. ncbi The temporospatial expression of peripheral myelin protein 22 at the developing blood-nerve and blood-brain barriers
    Kyle J Roux
    Department of Neuroscience, McKnight Brain Institute, College of Medicine, University of Florida, Gainesville, Florida 32610, USA
    J Comp Neurol 474:578-88. 2004
    Peripheral myelin protein 22 (PMP22), also known as growth arrest-specific gene 3 (gas3), is a tetraspan membrane protein whose misexpression is associated with demyelinating peripheral neuropathies...
  84. ncbi Increased proliferation and apoptosis of colonic epithelial cells in dextran sulfate sodium-induced colitis in rats
    Antonella Vetuschi
    Department of Experimental Medicine, University of Aquila, Italy
    Dig Dis Sci 47:1447-57. 2002
    ..alterations and epithelial cell apoptosis and proliferation of colonic mucosa in the acute and chronic phases of DSS-induced colitis...
  85. doi The phenotype of the Gly94fsX222 PMP22 insertion
    Sara D J de Vries
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Peripher Nerv Syst 16:113-8. 2011
    Point mutations in PMP22 are relatively rare and the phenotype may vary from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe Charcot-Marie-Tooth type 1 (CMT1)...
  86. doi How can we make progress with decision support systems in landscape and river basin management? Lessons learned from a comparative analysis of four different decision support systems
    Martin Volk
    Department Computational Landscape Ecology, UFZ, Helmholtz Centre for Environmental Research, Leipzig, Germany
    Environ Manage 46:834-49. 2010
    This article analyses the benefits and shortcomings of the recently developed decision support systems (DSS) FLUMAGIS, Elbe-DSS, CatchMODS, and MedAction...
  87. doi Compound Charcot-Marie-Tooth disease may determine unusual and milder phenotypes
    Silmara P Gouvea
    Department of Neurosciences and Behavioral Sciences, School of Medicine of Ribeirao Preto, University of Sao Paulo, Sao Paulo, Brazil
    Neurogenetics 11:135-8. 2010
    ..we present a father and a daughter with a very mild and unusual disease that segregates with two mutations in PMP22 gene, the 17p11.2-p12 duplication and a Ser72Leu point mutation...
  88. ncbi [Effect of balsalazide on intestinal mucosal permeability of dextran sulfate sodium-induced colitis in mice]
    Xiao Chang Liu
    Department of Gastroenterology, The First Affiliated Hospital, Anhui Medical University, Hefei 230032, China
    Zhonghua Wei Chang Wai Ke Za Zhi 12:193-6. 2009
    To investigate the effect of balsalazide on intestinal mucosal permeability of experimental colitis induced by dextran sulfate sodium(DSS) in a mouse model and its possible mechanism.
  89. pmc Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations
    Gabriel Miltenberger-Miltenyi
    Division of Clinical Genetics, Innsbruck Medical University, Innsbruck, Austria
    Eur J Hum Genet 17:1154-9. 2009
    Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and gap junction beta1-protein (GJB1) gene mutations are frequent causes of the Charcot-Marie-Tooth disease (CMT)...
  90. pmc Peripheral myelin protein 22 is regulated post-transcriptionally by miRNA-29a
    Jonathan D Verrier
    Department of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, Florida 32610 0244, USA
    Glia 57:1265-79. 2009
    Peripheral myelin protein 22 (PMP22) is a dose-sensitive, disease-associated protein primarily expressed in myelinating Schwann cells...
  91. doi Oxidative stress in severe dengue viral infection: association of thrombocytopenia with lipid peroxidation
    R Soundravally
    Department of Molecular Biology and Bioinformatics, Vector Control Research Centre, Pondicherry, South India
    Platelets 19:447-54. 2008
    ..Twenty-seven dengue fever (DF), 32 dengue hemorrhagic fever (DHF) and 21 dengue shock syndrome (DSS) cases were studied at 3, 5 and 7 days of illness. Sixty-three healthy subjects were selected as controls...
  92. ncbi Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
    S Bort
    Genetics Unit, Hospital Universitari La Fe, Valencia, Spain
    Hum Genet 99:746-54. 1997
    ..2. Point mutations in the coding region of the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) or connexin 32 (Cx32) have been reported in CMT patients, including CMT type 1 (CMT1), ..
  93. doi Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype
    Khalid Al-Thihli
    F Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, McGill University Health Centre Montreal Children s Hospital, Montreal, Quebec, Canada
    Am J Med Genet A 146:2412-6. 2008
    ..He was found to be a compound heterozygote for mutations in the PMP22 gene resulting in homozygous deletion of exons 2 and 3. The maternally inherited allele was the typical 1...
  94. ncbi Temporal expression pattern of peripheral myelin protein 22 during in vivo and in vitro myelination
    L Notterpek
    Department of Neurobiology, Stanford University School of Medicine, California 94305, USA
    Glia 25:358-69. 1999
    Peripheral myelin protein 22 (PMP22) was initially described as a minor component of peripheral myelin. Mutations affecting the PMP22 gene cause demyelinating neuropathies, supporting a role for the protein in PNS myelination...
  95. ncbi Inhibitory effects of the cyclooxygenase-2 inhibitor, etodolac, on colitis-associated tumorigenesis in p53-deficient mice treated with dextran sulfate sodium
    Kenichiroh Mukawa
    Department of Surgical and Molecular Pathology, Dokkyo Medical University School of Medicine, 880 Kitakobayashi, Mibu, Shimotsuga, Tochigi 321 0293, Japan
    Oncol Rep 19:393-9. 2008
    ..in the colitis-associated neoplasia model using p53-deficient mice treated with dextran sulfate sodium (DSS)...
  96. doi Neuroactive Steroid Levels in a transgenic rat model of CMT1A Neuropathy
    Donatella Caruso
    Department of Pharmacological Sciences and Center for Metrological Traceability in Laboratory Medicine, University of Milan, Milan, Italy
    J Mol Neurosci 34:249-53. 2008
    ..neuroactive steroids present in the sciatic nerve of male and female peripheral myelin protein 22 transgenic rats (PMP22(tg) rats; i.e., an experimental model of CMT1A) and of the corresponding wild-type littermates...
  97. ncbi Increased proliferation of middle to distal colonic cells during colorectal carcinogenesis in experimental murine ulcerative colitis
    Takuya Inoue
    Second Department of Internal Medicine, Osaka Medical College, Osaka 569 8686, Japan
    Oncol Rep 18:1457-62. 2007
    ..Chronic colitis was induced by administration of four cycles of dextran sulfate sodium (DSS) (each cycle: 5% or 2% DSS for 7 days and then distilled water for 14 days)...
  98. ncbi Granulocyte macrophage colony-stimulating factor ameliorates DSS-induced experimental colitis
    Satheesh K Sainathan
    Division of Gastroenterology, Washington University School of Medicine, St Louis, Missouri, USA
    Inflamm Bowel Dis 14:88-99. 2008
    ..To study the mechanism, we examined the effects of GM-CSF in the dextran sulfate sodium (DSS)-induced acute colitis model. We hypothesized that GM-CSF may work through effects on dendritic cells (DCs).
  99. ncbi Immune responses to myelin proteins in Guillain-Barré syndrome
    A Makowska
    Department of Clinical Neuroscience, King s College London, Guy s Hospital, London, UK
    J Neurol Neurosurg Psychiatry 79:664-71. 2008
    Potential target autoantigens in the demyelinating form of Guillain-Barré syndrome (GBS) include the myelin proteins PMP22, P0 and P2.
  100. ncbi Distal axonopathy in peripheral nerves of PMP22-mutant mice
    S Sancho
    Department of Cell Biology, Swiss Federal Institute of Technology and Institute of Neuropathology, University Hospital of Zurich, Zurich, Switzerland
    Brain 122:1563-77. 1999
    ..Trisomic expression of peripheral myelin protein 22 (PMP22) whose gene is contained within the duplicated region is considered to be responsible for the disease...
  101. doi Danggui-Shaoyao-San and its active fraction JD-30 improve Abeta-induced spatial recognition deficits in mice
    Zeng Yao Hu
    Beijing Institute of Pharmacology and Toxicology, 27 Tai Ping Road, Beijing 100850, China
    J Ethnopharmacol 128:365-72. 2010
    Previous studies showed that Danggui-Shaoyao-San (DSS), a traditional Chinese medicinal prescription, could alleviate cognitive dysfunction of Alzheimer's disease (AD) patients. However, the mechanism and substance basis remain unknown...

Research Grants78

  1. Host-microbe interaction in Drosophila gut
    Y Ip; Fiscal Year: 2007
    ..Moreover, feeding of dextran sulfate sodium (DSS), a widely used chemical that can induce ulcerative colitis in mammals, causes dose dependent lethality, and co-..
  2. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2010
    ..Peripheral myelin protein 22 (PMP22) is a hydrophobic integral membrane protein within Schwann cells, whose abnormal expression is associated with the ..
  3. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2010
    ..Peripheral myelin protein 22 (PMP22) is a hydrophobic integral membrane protein within Schwann cells, whose abnormal expression is associated with the ..
  4. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2007
    ..Peripheral myelin protein 22 (PMP22) is a 22kD hydrophobic integral membrane protein, whose abnormal expression is associated with the majority of ..
  5. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2004
    ..In the majority of CMT1A patients the peripheral myelin protein 22 (PMP22) gene on chromosome 17 is duplicated, while in a smaller but significant fraction, single point mutations in PMP22 ..
  6. Novel Intervention for Colitis
    MICHAEL VITEK; Fiscal Year: 2007
    ..rodentium) model, an acute Dextran Sulfate Sodium (DSS) model and a chronic DSS model of colitis...
  7. Early Events in Colitis-Associated Colorectal Cancer
    Wen Chi Chang; Fiscal Year: 2003
    ..The dextran sulfate sodium (DSS) model of induced colitis provides a unique opportunity to evaluate the spectrum of histological changes that lead ..
  8. THE TRAFFICKING OF MYELIN PROTEINS AND NEUROTROPHINS
    ERIC SHOOTER; Fiscal Year: 2003
    ..The two systems that will be studied are the intracellular transport and fate of a myelin protein, (PMP22), in Schwann cells and of neurotrophins in CNS neurons...
  9. AUTOMATED DETECTION OF GENE DUPLICATIONS OR DELETIONS
    Fatima Merchant; Fiscal Year: 2005
    ..These include: (1) neuropathies; Charcot-Marie-Tooth Disease (CMT1A) and Hereditary Neuropathy with Pressure Palsies (HNPP), (2) neurological disorders; Pelizaeus-Merzbacher Disease (..
  10. 15-LOX-1 effects on colitis and colon cancer
    Imad Shureiqi; Fiscal Year: 2009
    ..acid (supplemented to colonic crypt cells) into 13-S-HODE and PGE2 in mice treated with dextran sodium sulfate (DSS) to induce colitis. Aim 2: To determine whether 15-LOX-1 suppresses chronic colitis...
  11. 15-LOX-1 effects on colitis and colon cancer
    Imad Shureiqi; Fiscal Year: 2010
    ..acid (supplemented to colonic crypt cells) into 13-S-HODE and PGE2 in mice treated with dextran sodium sulfate (DSS) to induce colitis. Aim 2: To determine whether 15-LOX-1 suppresses chronic colitis...
  12. Molecular pathology of deafness due to mutation in PMP22
    MARGARET KOVACH; Fiscal Year: 2004
    ..associated with Charcot-Marie-Tooth disease (CMT; and inherited peripheral neuropathy), a unique mutation in the PMP22 gene was determined responsible for the clinical presentation...
  13. Metabolism and Carcinogenicity of Heterocyclic Amines
    TERRY ZENSER; Fiscal Year: 2007
    ..Dextran sulfate sodium (DSS)-induced colitis is an animal model for studying both inflammation and colitis-associated neoplasia...
  14. Folding and Misfolding of PMP22
    CHARLES SANDERS; Fiscal Year: 2005
    ..by genetic defects associated with the gene encoding the tetraspan membrane protein peripheral myelin protein 22 (PMP22)...
  15. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 2001
    ..The molecular details of this recombination event remains unknown. The gene for peripheral myelin protein-22 (PMP22) maps within the region duplicated in CMT1A and deleted in HNPP, and the respective phenotypes result from ..
  16. A Novel Cytoprotective Peptide for GI Epithelial Cell
    FREDERICK TOBACK; Fiscal Year: 2005
    ..epithelial cell (Caco-2/bbe) cultures subjected to injury by an oxidant, indomethacin, or dextran sulfate sodium (DSS) used to induce colitis in mice, Studies in cell culture indicate that this AMP peptide activates p38 MAP kinase, ..
  17. Axonal Injury in Demyelinating Disease
    Steven Scherer; Fiscal Year: 2005
    ..CMTI is caused by mutations in one of several genes that are expressed by myelinating Schwann cells, including PMP22, MPZ, and GJBJ...
  18. Genetic control of myelination by EGR2 and NAB proteins
    John Svaren; Fiscal Year: 2006
    ..Several peripheral neuropathies-including Charcot-Marie-Tooth disease (CMT), Dejerine-Sottas Syndrome (DSS), and Congenital Hypomyelinating Neuropathy (CHN}-are caused by deficits in myelin formation and maintenance, and ..
  19. Structure, Folding, and Misfolding of PMP22
    CHARLES R contact SANDERS; Fiscal Year: 2010
    Genetically dominant mutations in the gene that encodes peripheral myelin protein 22 (PMP22) lead to single amino acid changes in its sequence that result in defective myelin, underlying the common human peripheral neuropathy, Charcot-..
  20. Immunomodulatory effects of arginine supplementation in colitis and colon cancer
    Keith Wilson; Fiscal Year: 2009
    ..colitis and under Aim 3 we have found that CAT2 deletion dramatically increases tumor number and size in the AOM-DSS colitis-associated cancer model...
  21. Novel xanthine oxidase inhibitor for arthritis
    Zsuzsanna Zsengeller; Fiscal Year: 2004
    ..of inflammation, our clinical development XO inhibitor, AN-260, has been shown to abolish histologic injury in a DSS model of colitis and to prevent neutrophil infiltration and pro-inflammatory gene expression in an LPS model of ..
  22. Flavivirus Infections: Pathogenesis and Prevention
    Francis Ennis; Fiscal Year: 2007
    ..Program Project is to understand the immunopathology of dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS), the severe complications of dengue virus infections...
  23. RNA-Protein Interactions in Flavivirus Infection
    MARIANO GARCIA BLANCO; Fiscal Year: 2007
    ..5 billion people. DF can progress to dengue hemorrhagic fever (DHF) and dengue shock syndrome (DSS), which are dreaded developments...