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. 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
  9. 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
  10. 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

Detail Information

Publications177 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. 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...
  9. 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...
  10. 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...
  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 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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...
  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. ncbi 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 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...
  34. 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...
  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 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 (..
  37. 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 ..
  38. 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 ..
  39. 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)...
  40. 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)...
  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. 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 ..
  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. 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
    ....
  53. 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...
  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 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...
  60. 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...
  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. 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...
  65. 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...
  66. 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 ..
  67. 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)...
  68. 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...
  69. 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...
  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 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...
  72. 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...
  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 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).
  75. 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.
  76. 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...
  77. 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...
  78. ncbi 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. doi Charcot-Marie-Tooth disease: frequency of genetic subtypes in a German neuromuscular center population
    Burkhard Gess
    University of Muenster, Department of Sleep Medicine and Neuromuscular Disorders, Albert Schweitzer Campus 1, Geb A1, 48149 Munster, Germany
    Neuromuscul Disord 23:647-51. 2013
    ..In electrophysiologically demyelinating CMT, PMP22 duplication was the most common genetic cause, followed by mutations in GJB1 and MPZ...
  80. doi Feeding with olive oil attenuates inflammation in dextran sulfate sodium-induced colitis in rat
    Toru Takashima
    Department of Internal Medicine and Gastrointestinal Endoscopy, Saga Medical School, Saga 849 8501, Japan Basic Science of Nursing, Saga Medical School, Saga 849 8501, Japan
    J Nutr Biochem 25:186-92. 2014
    ..cell proliferation and the expressions of STAT3 and STAT3 phosphorylation (pSTAT3) in dextran sulfate sodium (DSS)-induced colitis...
  81. 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 ..
  82. 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...
  83. 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...
  84. 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...
  85. 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...
  86. 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...
  87. doi Clcn5 knockout mice exhibit novel immunomodulatory effects and are more susceptible to dextran sulfate sodium-induced colitis
    Philip Alex
    Division of Gastroenterology, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    J Immunol 184:3988-96. 2010
    ..Acute dextran sulfate sodium (DSS) colitis was induced in Clcn5 knockout (KO) and wild-type (WT) mice...
  88. 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.
  89. 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)...
  90. 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.
  91. pmc The early whole-blood transcriptional signature of dengue virus and features associated with progression to dengue shock syndrome in Vietnamese children and young adults
    Long Truong Hoang
    Oxford University Clinical Research Unit, Hospital for Tropical Diseases, 190 Ben Ham Tu, District 5, Ho Chi Minh City, Vietnam
    J Virol 84:12982-94. 2010
    Dengue is a pantropic public health problem. In children, dengue shock syndrome (DSS) is the most common life-threatening complication. The ability to predict which patients may develop DSS may improve triage and treatment...
  92. 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...
  93. ncbi Amelioration of dextran sulfate sodium-induced colitis in mice by oral administration of beta-caryophyllene, a sesquiterpene
    Jae Young Cho
    Korea Food Research Institute, San 46 1, Backhyun, Bundang gu, Sungnam, Kyonggi Do, South Korea
    Life Sci 80:932-9. 2007
    ..examined for anti-inflammatory activity in a mouse model of experimental colitis induced by dextran sulfate sodium (DSS). Colitis was induced by exposing male BALB/c mice to 5% DSS in drinking water for 7 days...
  94. 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...
  95. ncbi 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...
  96. 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)...
  97. ncbi Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
    J Appl Genet 51:203-9. 2010
    Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Marie-Tooth disease (CMT), only 8 have been shown to segregate with a mixed phenotype of CMT and hearing impairment...
  98. ncbi 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...
  99. ncbi 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...
  100. ncbi Effects of fructo-oligosaccharide on DSS-induced colitis differ in mice fed nonpurified and purified diets
    Haruka Goto
    Graduate School of Life Science, Hokkaido University, Sapporo, Japan
    J Nutr 140:2121-7. 2010
    ..supplemented with or without fructo-oligosaccharide (FOS; 50 g/kg diet) altered the response of C57BL/6 mice to DSS-induced diarrhea. In Expt. 1, we examined disease severity in mice receiving DSS (2% in drinking water) for 5 d...

Research Grants120 found, 100 shown here

  1. 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 ..
  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: 2013
    ..Peripheral myelin protein 22 (PMP22) is a hydrophobic integral membrane protein within Schwann cells, whose abnormal expression is associated with the ..
  4. Molecular pathogenesis of SIMPLE in Charcot-Marie-Tooth disease
    MING HIN LEE; Fiscal Year: 2010
    ..CMT1A and CMT1B) revealed accumulations of peripheral myelin proteins, namely, peripheral myelin protein 22 (PMP22) and myelin protein zero (MPZ), to cytoplasmic inclusion bodies...
  5. Eotaxin in Colitis and Colitis-Associated Carcinogenesis
    Lori A Coburn; Fiscal Year: 2013
    ..Eotaxin-1 has been shown to be increased in dextran sulfate sodium (DSS) induced colitis by my collaborator, and we now show for the first time that eotaxin-1 is upregulated in: 1) ..
  6. Immunomodulatory effects of arginine supplementation in colitis and colon cancer
    Keith T Wilson; Fiscal Year: 2013
    ..is effective as a treatment for epithelial injury and inflammation induced by dextran sulfate sodium (DSS), a model that mimics UC. CAT2 expression, L-Arg uptake, and L-Arg levels are all decreased in UC tissues...
  7. Molecular Mechanisms Regulating Intestinal Homeostasis
    Vincent W Yang; Fiscal Year: 2012
    ..In addition, it was shown recenty that KLF5 is necessary for mucosal healing in the dextran sulfate sodium (DSS) mouse model of colitis...
  8. The role of HIF2alpha in colon carcinogenesis
    Yatrik M Shah; Fiscal Year: 2010
    ..This will be examined in a well-characterized CAC model using azoxymethane (AOM) and dextran sulfate sodium (DSS) in mice that are disrupted for HIF2a or mice that overexpress HIF2a specifically in the colon...
  9. Molecular Mechanisms Regulating Intestinal Homeostasis
    Vincent W Yang; Fiscal Year: 2013
    ..In addition, it was shown recenty that KLF5 is necessary for mucosal healing in the dextran sulfate sodium (DSS) mouse model of colitis...
  10. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2009
    ..Peripheral myelin protein 22 (PMP22) is a hydrophobic integral membrane protein within Schwann cells, whose abnormal expression is associated with the ..
  11. Molecular pathogenesis of SIMPLE in Charcot-Marie-Tooth disease
    Ming Lee; Fiscal Year: 2009
    ..CMT1A and CMT1B) revealed accumulations of peripheral myelin proteins, namely, peripheral myelin protein 22 (PMP22) and myelin protein zero (MPZ), to cytoplasmic inclusion bodies...
  12. 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 ..
  13. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2005
    ..Peripheral myelin protein 22 (PMP22) is a 22kD hydrophobic integral membrane protein, whose abnormal expression is associated with the majority of ..
  14. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2006
    ..Peripheral myelin protein 22 (PMP22) is a 22kD hydrophobic integral membrane protein, whose abnormal expression is associated with the majority of ..
  15. The role of HIF2alpha in colon carcinogenesis
    Yatrik M Shah; Fiscal Year: 2013
    ..This will be examined in a well-characterized CAC model using azoxymethane (AOM) and dextran sulfate sodium (DSS) in mice that are disrupted for HIF2a or mice that overexpress HIF2a specifically in the colon...
  16. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2003
    ..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 ..
  17. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2001
    ..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 ..
  18. 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 ..
  19. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2002
    ..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 ..
  20. Role of the immune receptor Nod1 in inflammation-associated colon tumorigenesis
    Grace Y Chen; Fiscal Year: 2010
    ..involves a single injection of a carcinogen followed by multiple rounds of water containing dextran sulfate sodium (DSS), which causes colitis...
  21. Regulation of colitis by orphan nuclear receptor Nur77
    Dezheng Zhao; Fiscal Year: 2013
    ..have shown that Nur77 is highly induced in acute trisnitrobenzene sulfonic acid (TNBS) and dextran sulfate sodium (DSS) experimental colitis...
  22. A novel agent suppresses colitis and colon cancer
    Nengtai Ouyang; Fiscal Year: 2013
    ..this proposal, we will further confirm and refine the inhibitory effect of the peptide in dextran sulfate sodium (DSS)-induced acute colitis mouse model. The mechanism by which this peptide suppresses colitis will also be explored...
  23. Progranulin Intervention in Inflammatory Bowel Diseases
    Chuanju Liu; Fiscal Year: 2013
    ..preliminary studies that the deletion of the PGRN gene renders B6 mice more susceptible to Dextran Sulfate Sodium (DSS) induction and to developing more severe colitis...
  24. Progranulin Intervention in Inflammatory Bowel Diseases
    Chuanju Liu; Fiscal Year: 2012
    ..preliminary studies that the deletion of the PGRN gene renders B6 mice more susceptible to Dextran Sulfate Sodium (DSS) induction and to developing more severe colitis...
  25. The impact of Helicobacter pylori infection on inflammatory bowel disease suscept
    John Kao; Fiscal Year: 2009
    ..2. To study the impact of H. pylori-induced Tregs on mouse susceptibility to chronic dextran sulfate sodium (DSS)-colitis. 2.1. To demonstrate the presence of extragastric H. pylori-specific Tregs response induced by H...
  26. Role of stearoyl CoA desaturase-1 in TLR5 KO mice colitis and metabolic syndrome
    Matam Vijay Kumar; Fiscal Year: 2013
    ..Interestingly, SCD-1 deficiency exacerbates intestinal inflammation in an acute model of Dextran Sodium Sulfate (DSS) and C. rodentium induced colitis and SCD-1 overexpression significantly attenuated such colitis...
  27. Inducible colon-specific transgenic mouse for cancer research
    James C Fleet; Fiscal Year: 2013
    ..Additional studies will be done in the presence of colonic inflammation induced by dextran sulfate sodium (DSS)...
  28. Role of STAT3 in the pathogenesis of Inflammatory Bowel Disease
    Prema Robinson; Fiscal Year: 2013
    ..In preliminary studies, we demonstrated that C188-9 almost completely prevents dextran sodium sulphate (DSS)-induced colitis in mice...
  29. Antioxidants and Antiinflammatory in Colorectal Cancer
    Ah Ng Tony Kong; Fiscal Year: 2011
    ..inflammation and oxidative stresses, Nrf2-deficient mice were found to be more susceptible to inflammatory agent DSS-induced colitis...
  30. Role of CD98 Glycoprotein in Intestinal Inflammation
    Hamed Laroui; Fiscal Year: 2012
    ..We have demonstrated that DSS-induced colitis is aggravated in villin-CD98 transgenic mice (in which CD98 is expressed in colonocytes) than wild-..
  31. Role of CD98 Glycoprotein in Intestinal Inflammation
    Hamed Laroui; Fiscal Year: 2013
    ..We have demonstrated that DSS-induced colitis is aggravated in villin-CD98 transgenic mice (in which CD98 is expressed in colonocytes) than wild-..
  32. Colorectal cancer chemoprevention with phytochemical combinations
    Swati Nagar; Fiscal Year: 2013
    ..efficacy from Aim 1 will be tested in a dextran sulfate sodium + 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (DSS/PhIP) colon adenocarcinoma mouse model, and aberrant crypt foci (ACF), tumor size/frequency, and ugt induction will ..
  33. Role of poly (ADP-ribose) polymerase 1 (PARP-1) in experimental colitis
    Claire Larmonier; Fiscal Year: 2013
    ..dispensable in T-cells, while Parp1-/- mice are protected from colitis resulting from epithelial damage induced by DSS. These data collectively suggests that the pathogenic role of Parp1 in colitis is restricted to either colonic ..
  34. Ionic currents in gastrointestinal smooth muscle
    HAMID AKBARALI; Fiscal Year: 2009
    ..ATP-sensitive potassium channels in the murine colonic smooth muscle myocytes from the dextran sulphate -sodium (DSS) model of experimental colitis...
  35. 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...
  36. Identification of Lactobacillus Secreted Factors in Regulation of Pgp
    Seema Saksena; Fiscal Year: 2013
    ..Further, a decrease in function and expression of Pgp has been shown in experimental mouse model of DSS-induced colitis...
  37. Gene expression analysis of coding and non-coding RNAs in colon cancer prevention
    ROBERT STEPHEN CHAPKIN; Fiscal Year: 2010
    ..e., the azoxymethane (AOM)-dextran sodium sulfate (DSS) treated rat in combination with a chemoprotective diet extensively studied in our laboratory, i.e...
  38. Aberrant activation of mTOR in peripheral neuropathy
    Sean Hagerty; Fiscal Year: 2010
    ..Previous results strongly suggest that overexpression of PMP22 in CMT1A leads to mTOR activation which, in turn, results in Schwann cell dedifferentiation...
  39. Importance of CD5 for the function of regulatory T cells
    Subbarao Bondada; Fiscal Year: 2009
    ..Moreover, our preliminary studies showed that in the dextran sulfate (DSS) induced model of colitis, CD5 knockout mice have a milder form of the disease which we hypothesize is due to more ..
  40. 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...
  41. Role of Claudin-2 in Inflammatory Diseases and Colon Cancer
    Amar B Singh; Fiscal Year: 2013
    ..3) Cl-2Tg mice are significantly protected from experimental-colitis [induced using dextran sodium sulfate (DSS, 4% w/v in drinking water)] compared to WT littermates (p<0.001)...
  42. Early Events in Colitis-Associated Colorectal Cancer
    Wen Chi Chang; Fiscal Year: 2002
    ..The dextran sulfate sodium (DSS) model of induced colitis provides a unique opportunity to evaluate the spectrum of histological changes that lead ..
  43. 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 ..
  44. REGULATION OF INTESTINAL EPITHELIAL CELL PROLIFERATION
    Vincent W Yang; Fiscal Year: 2013
    ..as lipopolysaccharide (LPS), pathogenic bacterial infection by Citrobacter rodentium, and dextran sodium sulfate (DSS)-induced colitis...
  45. THE TRAFFICKING OF MYELIN PROTEINS AND NEUROTROPHINS
    ERIC SHOOTER; Fiscal Year: 2000
    ..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...
  46. THE TRAFFICKING OF MYELIN PROTEINS AND NEUROTROPHINS
    ERIC SHOOTER; Fiscal Year: 2002
    ..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...
  47. 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...
  48. THE TRAFFICKING OF MYELIN PROTEINS AND NEUROTROPHINS
    ERIC SHOOTER; Fiscal Year: 2001
    ..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...
  49. 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 (..
  50. AUTOMATED DETECTION OF GENE DUPLICATIONS OR DELETIONS
    Fatima Merchant; Fiscal Year: 2004
    ..These include: (1) neuropathies; Charcot-Marie-Tooth Disease (CMT1A) and Hereditary Neuropathy with Pressure Palsies (HNPP), (2) neurological disorders; Pelizaeus-Merzbacher Disease (..
  51. 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...
  52. SVIP and CMT1A
    Jun Li; Fiscal Year: 2012
    ..hereditary neuropathy with liability to pressure palsies (HNPP) and Trembler-J (TrJ) point mutation causing CMT1E. These diseases suggest that PMP22 level has to be tightly controlled to maintain the wellbeing of the peripheral ..
  53. The Post-Transcriptional Regulation of Peripheral Myelin Protein 22 by MicroRNAs
    JONATHAN VERRIER; Fiscal Year: 2009
    ..Peripheral myelin protein 22 (PMP22) is an integral membrane protein that is primarily expressed in myelinforming Schwann cells of the peripheral ..
  54. AUTOMATED DETECTION OF GENE DUPLICATIONS OR DELETIONS
    Fatima Merchant; Fiscal Year: 2000
    ..These include: (1) neuropathies; Charcot- Marie-Tooth Disease (CMT1A) and Hereditary Neuropathy with Pressure Palsies (HNPP), (2) neurological disorders; Pelizaeus-Merzbacher Disease (..
  55. 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...
  56. Metabolism and Carcinogenicity of Heterocyclic Amines
    TERRY ZENSER; Fiscal Year: 2005
    ..Dextran sulfate sodium (DSS)-induced colitis is an animal model for studying both inflammation and colitis-associated neoplasia...
  57. Metabolism and Carcinogenicity of Heterocyclic Amines
    TERRY ZENSER; Fiscal Year: 2004
    ..Dextran sulfate sodium (DSS)-induced colitis is an animal model for studying both inflammation and colitis-associated neoplasia...
  58. Metabolism and Carcinogenicity of Heterocyclic Amines
    TERRY ZENSER; Fiscal Year: 2003
    ..Dextran sulfate sodium (DSS)-induced colitis is an animal model for studying both inflammation and colitis-associated neoplasia...
  59. 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...
  60. Metabolism and Carcinogenicity of Heterocyclic Amines
    TERRY ZENSER; Fiscal Year: 2006
    ..Dextran sulfate sodium (DSS)-induced colitis is an animal model for studying both inflammation and colitis-associated neoplasia...
  61. Drug Screening Assays for Charcot-Marie-Tooth Disease
    JOHN P SVAREN; Fiscal Year: 2011
    ..peripheral myelinopathies are caused by duplication of a critical myelin gene, Peripheral Myelin Protein 22 (PMP22), which is classified as CMT1A...
  62. TRAINING
    Michael Shy; Fiscal Year: 2009
    ..there are still no effective treatments for any form of CMT [3-5] and the first large scale therapeutic trials for CMT1A (the commonest form of CMT) are only now underway (Shy, Herrmann, Me Dermott and Reilly, members of the INC, are ..
  63. Folding and Misfolding of PMP22
    CHARLES SANDERS; Fiscal Year: 2004
    ..by genetic defects associated with the gene encoding the tetraspan membrane protein peripheral myelin protein 22 (PMP22)...
  64. 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)...
  65. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 2000
    ..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 ..
  66. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 2000
    ..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 ..
  67. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 1999
    ..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 ..
  68. 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 ..
  69. CMT PERIPHERAL NEUROPATHY--III MOLECULAR MECHANISMS
    JAMES LUPSKI; Fiscal Year: 2000
    ..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 ..
  70. A Novel Cytoprotective Peptide for GI Epithelial Cell
    FREDERICK TOBACK; Fiscal Year: 2004
    ..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, ..
  71. 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, ..
  72. Axonal Injury in Demyelinating Disease
    Steven Scherer; Fiscal Year: 2003
    ..CMTI is caused by mutations in one of several genes that are expressed by myelinating Schwann cells, including PMP22, MPZ, and GJBJ...
  73. Axonal Injury in Demyelinating Disease
    Steven Scherer; Fiscal Year: 2004
    ..CMTI is caused by mutations in one of several genes that are expressed by myelinating Schwann cells, including PMP22, MPZ, and GJBJ...
  74. Axonal Injury in Demyelinating Disease
    Steven Scherer; Fiscal Year: 2002
    ..CMTI is caused by mutations in one of several genes that are expressed by myelinating Schwann cells, including PMP22, MPZ, and GJBJ...
  75. 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...
  76. Genetic control of myelination by EGR2 and NAB proteins
    John Svaren; Fiscal Year: 2004
    ..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 ..
  77. Genetic control of myelination by EGR2 and NAB proteins
    John Svaren; Fiscal Year: 2003
    ..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 ..
  78. Genetic control of myelination by EGR2 and NAB proteins
    John Svaren; Fiscal Year: 2002
    ..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 ..
  79. Natural History
    Michael Shy; Fiscal Year: 2009
    ..of CMT1, 2, and 4, and have provided the data compelling the clinical trials in humans currently underway for CMT1A. Despite these advances, there are no effective therapies for any form of CMT, natural history data are available ..
  80. Inherited Neurophathies Consortium (RDCRC)
    Michael E Shy; Fiscal Year: 2010
    ..therapies are available for any form of CMT, natural history data are available for only the most common types (CMT1A and CMT1X), and many potential genotype-phenotype correlations remain unknown...
  81. Inherited Neurophathies Consortium (RDCRC)
    Michael Shy; Fiscal Year: 2009
    ..therapies are available for any form of CMT, natural history data are available for only the most common types (CMT1A and CMT1X), and many potential genotype-phenotype correlations remain unknown...
  82. 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 ..