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. pmc Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
    G J Snipes
    Department of Neurobiology, Stanford University School of Medicine, CA 94305
    J Cell Biol 117:225-38. 1992
  7. pmc The PMP22 gene and its related diseases
    Jun Li
    VA Tennessee Valley Healthcare System, 1310 24th Avenue South, Nashville, TN 37212, USA
    Mol Neurobiol 47:673-98. 2013
  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 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
  10. ncbi A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
    G A Nicholson
    University of Sydney, Molecular Genetics and Medicine Laboratory, Concord Hospital, New South Wales, Australia
    Nat Genet 6:263-6. 1994

Detail Information

Publications236 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. pmc Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
    G J Snipes
    Department of Neurobiology, Stanford University School of Medicine, CA 94305
    J Cell Biol 117:225-38. 1992
    ..Thus, we propose the name Peripheral Myelin Protein-22 (PMP-22) for the proteins and cDNA previously designated PASII, SR13, and gas3...
  7. pmc The PMP22 gene and its related diseases
    Jun Li
    VA Tennessee Valley Healthcare System, 1310 24th Avenue South, Nashville, TN 37212, USA
    Mol Neurobiol 47:673-98. 2013
    Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system...
  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 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...
  10. ncbi A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
    G A Nicholson
    University of Sydney, Molecular Genetics and Medicine Laboratory, Concord Hospital, New South Wales, Australia
    Nat Genet 6:263-6. 1994
    ..As the deleted DNA region includes the coding region for a peripheral myelin gene (PMP22), we used single strand conformation analysis to examine this gene for mutations in the non-deleted HNPP family...
  11. 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...
  12. ncbi Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease
    Farid Meggouh
    Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands
    Ann Neurol 57:589-91. 2005
    ..Genetic analysis identified the boy as a heterozygote for both a peripheral myelin protein 22 (PMP22) duplication and a mutation in the lipopolysaccharide-induced-tumour-necrosis-factor-alpha-factor (LITAF) gene, ..
  13. ncbi Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy
    W Christopher Winter
    Department of Neurology, University of Virginia, Charlottesville, USA
    Neurology 61:1154-5. 2003
  14. pmc MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy
    Bianca Kohl
    Department of Neurology University of Wuerzburg, Josef Schneider Strasse 11, 97080 Wuerzburg, Germany
    Am J Pathol 176:1390-9. 2010
    Charcot-Marie-Tooth 1A (CMT1A) neuropathy, the most common inherited peripheral neuropathy, is primarily caused by a gene duplication for the peripheral myelin protein-22 (PMP22)...
  15. doi Variable phenotypes are associated with PMP22 missense mutations
    M Russo
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology, London, UK
    Neuromuscul Disord 21:106-14. 2011
    ..The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene...
  16. ncbi Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
    A A Gabreels-Festen
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Acta Neuropathol 90:645-9. 1995
    ..5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protein PMP22, or from point mutations in this gene...
  17. doi Increased severity over generations of Charcot-Marie-Tooth disease type 1A
    I Steiner
    Neurological Sciences Unit, Hadassah University Hospital, Mount Scopus, 24035, Jerusalem 91240, Israel
    J Neurol 255:813-9. 2008
    Charcot-Marie-Tooth type 1A (CMT1A) is an autosomal dominant polyneuropathy due to a 1.5 Mb tandem duplication in chromosome 17p11.2, containing the PMP22 gene. This mutation is not modified during inheritance.
  18. ncbi Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease
    Y Parman
    Istanbul Medical Faculty, Department of Neurology, Turkey
    Ann Neurol 45:518-22. 1999
    ..neuropathy of childhood, has been questioned, because only heterozygous mutations of the myelin proteins P0 or PMP22 genes have been identified in virtually all patients with this phenotype...
  19. ncbi Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations
    W I M Verhagen
    Department of Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands
    Otol Neurotol 26:405-14. 2005
    ..of sensorineural hearing impairment (SNHI) that occur in hereditary motor and sensory neuropathy Type 1a (HMSN-1a) and hereditary neuropathy with liability to pressure palsies (HNPP), which are caused by deletion or frameshift mutation.
  20. pmc Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases
    K M Dickson
    Department of Neurology and Neurosurgery, McGill University, 3640 University Street, Montreal, QC, Canada H3A 2B2
    Proc Natl Acad Sci U S A 99:9852-7. 2002
    ..Sequestration of CNX in intracellular myelin-like figures may be relevant to the autosomal dominant Charcot-Marie-Tooth-related neuropathies...
  21. ncbi Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation
    P P Lenssen
    Institute of Neurology, University Hospital Nijmegen, The Netherlands
    Brain 121:1451-8. 1998
    ..and subsequent sequencing demonstrated a heterozygous G-insertion in a stretch of six Gs at nt 276281 of the PMP22 gene, resulting in a frame shift after Gly94. Haplotype comparison of the six families revealed common ancestry...
  22. ncbi PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?
    E Nelis
    Nat Genet 15:13-4. 1997
  23. doi Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics
    Paschalis Nicolaou
    Neurogenetics Department, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neuroepidemiology 35:171-7. 2010
    ..Inheritance can be autosomal dominant, recessive or X-linked. CMT is associated with more than 30 loci, and about 25 causative genes have been described thus far...
  24. doi Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study
    Jean Baptiste Chanson
    Department de Neurologie, Hopitaux Universitaires de Strasbourg, Hopital de Hautepierre, 1 Avenue Moliere, Strasbourg 67000, France
    J Neurol Neurosurg Psychiatry 84:392-7. 2013
    Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (..
  25. ncbi Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A
    N Matsunami
    Howard Hughes Medical Institute, University of Utah Medical Center, Salt Lake City 84112
    Nat Genet 1:176-9. 1992
    Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2...
  26. ncbi De-novo mutation in hereditary motor and sensory neuropathy type I
    J E Hoogendijk
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Lancet 339:1081-2. 1992
    ..This finding has important implications for genetic counselling of isolated patients with HMSN I...
  27. 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...
  28. 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)...
  29. ncbi Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1
    C Numakura
    Department of Pediatrics, Yamagata University School of Medicine, Japan
    Ann Neurol 47:101-3. 2000
    ..5-megabase deletion in chromosome 17p11.2-p12 containing the peripheral myelin protein 22 gene (PMP22) and an Arg157Gly mutation of PMP22...
  30. pmc Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease
    Marian A J Weterman
    Neurogenetics Lab, Department of Neurogenetics K2 213, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Eur J Hum Genet 18:421-8. 2010
    ..a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene...
  31. 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
    ....
  32. ncbi Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus
    Heather L Wilson
    Institute of Molecular Physiology, University of Sheffield S10 2TN, United Kingdom
    J Biol Chem 277:34017-23. 2002
    ..These findings suggest that the P2X(7) C-terminal domain associates with EMPs, and this interaction may mediate some aspects of the downstream signaling following P2X(7) receptor activation...
  33. ncbi Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
    L J Valentijn
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Nat Genet 2:288-91. 1992
    ..investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A)...
  34. 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...
  35. 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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
    ..In addition, duplication and deletion of PMP22 are associated with Charcot-Marie-Tooth disease Type 1A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP), respectively...
  40. 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...
  41. 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...
  42. pmc Gene expression of PMP22 is an independent prognostic factor for disease-free and overall survival in breast cancer patients
    Dan Tong
    Department of Obstetrics and Gynaecology, Medical University of Vienna, EBO 5Q, AKH, Wahringer Gurtel 18 20, Vienna 1090, Austria
    BMC Cancer 10:682. 2010
    Gene expression of peripheral myelin protein 22 (PMP22) and the epithelial membrane proteins (EMPs) was found to be differentially expressed in invasive and non-invasive breast cell lines in a previous study...
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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 ..
  49. 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)...
  50. 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...
  51. 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...
  52. 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...
  53. 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...
  54. 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
    Charcot-Marie-Tooth disease type 1A (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...
  55. 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...
  56. 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
    Duplication and deletion of the 1.4-Mb region in 17p12 that is delimited by two 24-kb low copy number repeats (CMT1A-REPs) represent frequent genomic rearrangements resulting in two common inherited peripheral neuropathies, Charcot-Marie-..
  57. 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...
  58. 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...
  59. 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...
  60. 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
    ..in human chromosome 17p12 are associated with neuropathy: duplications cause Charcot-Marie-Tooth disease type 1A (CMT1A), whereas deletions lead to hereditary neuropathy with liability to pressure palsies (HNPP)...
  61. 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
    ..2-12 is responsible for 75% of cases of the demyelinating form of Charcot-Marie-Tooth disease (CMT1A)...
  62. 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
    ..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 liability to pressure palsies (HNPP)...
  63. 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).
  64. 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 (..
  65. 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...
  66. 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...
  67. 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...
  68. 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
    ..is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and to another unknown autosome (CMT1C). CMT1A is most often associated with a tandem 1...
  69. 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...
  70. 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 ..
  71. 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
    ....
  72. 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)...
  73. 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...
  74. 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...
  75. 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
    ....
  76. 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...
  77. 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
    ....
  78. 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.
  79. 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)...
  80. 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
    ..4-Mb pair deletion on chromosome 17p12. 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/..
  81. 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...
  82. 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...
  83. 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
    ..This is evident from the genetic disease mechanisms in Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) as well as transgenic animals with altered ..
  84. 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...
  85. 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...
  86. 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...
  87. 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...
  88. 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)...
  89. 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 ..
  90. 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...
  91. 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...
  92. 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...
  93. 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...
  94. 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...
  95. 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...
  96. 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).
  97. 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.
  98. 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...
  99. 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...
  100. 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...
  101. doi The proximodistal aggravation of colitis depends on substance P released from TRPV1-expressing sensory neurons
    Matthias A Engel
    Institute of Physiology and Pathophysiology, Friedrich Alexander Universitat Erlangen Nurnberg, Universitätsstr 17, 91054 Erlangen, Germany
    J Gastroenterol 47:256-65. 2012
    ..We investigated whether innervation density and neuropeptide release were responsible for the proximodistal aggravation of murine dextran-sulfate-sodium-salt (DSS) colitis.

Research Grants72

  1. 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...
  2. 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) ..
  3. 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...
  4. 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...
  5. 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...
  6. Chemokine Decoy Receptor: a novel therapy of IBD
    Kanneganti Murthy; Fiscal Year: 2012
    ..Specific Aims: Establish the pharmacodynamic profile of mR-421 in mice utilizing 1) a dextran sulfate sodium (DSS) model and 2) a dintrobenzenesulfonic (DNBS) model of intestinal inflammation Treatment with mR-421 (3, 10, and 30 ..
  7. Treatment of Inflammatory Bowel Disease with Ceramidase Inhibitors
    Lynn W Maines; Fiscal Year: 2012
    ..2. To evaluate the therapeutic efficacies of ceramidase inhibitors in the DSS model of ulcerative colitis...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. The Role of a Novel Vitamin E Metabolite in Colon Cancer Prevention and Therapy
    Qing Jiang; Fiscal Year: 2012
    ..model, in which colon carcinogenesis is induced by azoxymethane (AOM) and is accelerated by dextran sulfate sodium (DSS)-caused colon inflammation...
  13. 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)...
  14. 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 ..
  15. P53 inactivation on MDSC development and tumor progression
    Yan Cui; Fiscal Year: 2013
    ..myeloid precursors synergistically enhances chronic inflammation and tumorigenesis in the dextran sulfate sodium (DSS)-induced colon cancer, whereas targeted restoration of p53 in fibroblast or MDSC delays colon cancer development...
  16. 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...
  17. The role of ErbB-4 in inflammation-induced colon carcinogenesis
    Mark R Frey; Fiscal Year: 2011
    ..expression of ErbB-4 isoforms during tumorigenesis and determining the effect of ErbB-4 deletion on AOM/DSS tumorigenesis in vivo;(2) Define the role(s) of full-length and intracellular domain ErbB-4 isoforms in intestinal ..
  18. CYTOPROTECTIVE ROLE OF HEAT SHOCK PROTEINS IN IBD
    Eugene B Chang; Fiscal Year: 2013
    ..intensifying the inflammatory response, (3) gene-targeted deletion of Hsp70 transforms the otherwise, self-limited, DSS-induced colitis to a chronic, IBD-like colitis, and (4) after AOM/DSS challenge, multi-focal, flat dysplasia-to-..
  19. GROWTH FACTORS AND INFLAMMATORY BOWEL DISEASE
    Pauline K Lund; Fiscal Year: 2013
    ..Aim 1 will define the cellular and molecular mechanisms and gene targets associated with enhanced AOM/DSS-induced tumorigenesis in mice with IEC-SOCS3 deletion...
  20. 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 ..
  21. Antioxidants and Antiinflammatory in Colorectal Cancer
    Ah Ng Tony Kong; Fiscal Year: 2012
    ..inflammation and oxidative stresses, Nrf2-deficient mice were found to be more susceptible to inflammatory agent DSS-induced colitis...
  22. 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...
  23. 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-..
  24. 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)...
  25. 15-LOX-1 effects on colitis and colon cancer
    Imad Shureiqi; Fiscal Year: 2012
    ..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...
  26. 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...
  27. S1P Lyase in colon cancer
    Julie D Saba; Fiscal Year: 2013
    ..We now show that SPL is also downregulated in tumors that develop in azoxymethane/dextran sodium sulfate (AOM/DSS)-treated mice. Thus, SPL downregulation is a common feature of intestinal neoplasia...
  28. Soluble epoxide hydrolase as a novel target of colitis-induced carcinogenesis
    Guang Yu Yang; Fiscal Year: 2012
    ..are performed: 1) Determine the role of sEH in colitis-induced carcinogenesis using sEH knockout mice in our novel DSS-induced carcinogenesis model, and a spontaneous colitis-carcinogenesis model in double-knockout (sEH and IL-10) ..
  29. Chemoprevention of Colitis-Associated Neoplasia by 5-ASA
    Margie L Clapper; Fiscal Year: 2012
    ..acid (5-ASA), the first-line therapy for the treatment of human colitis, to inhibit the multiplicity of AOM/DSS-induced colitis-associated dysplasias in mice when given prior to the induction of colitis...
  30. IL-22 pathway in IBD
    Atsushi Mizoguchi; Fiscal Year: 2013
    ..that overexpression of IL-22BP impaired the recovery from acute colitis induced by dextran sodium sulfate (DSS). However, only little information is currently available on the IL-22BP in any research fields, including IBD...
  31. PURINERGIC REGULATION OF ENTERIC NEURAL REFLEXES
    FEDIAS LEONTIOU CHRISTOFI; Fiscal Year: 2011
    ..Hypothesis 2.2 is tested that A3Rs confer protection in genomic models of colitis. It is tested using DSS in C57BL/6 A3 KO or FVB/N profilin transctenic mice with 8-fold up-regulation of A3Rs...
  32. Regulation of Colon Epithelial Cell Survival by NRG4-ErbB4 Signaling
    Mark R Frey; Fiscal Year: 2013
    ..colonocytes from cytokine-induced apoptosis both in vitro and in vivo, and reduces the severity of acute murine DSS colitis...
  33. Colon Cancer Chemoprevention with Phosphodiesterase-5 Inhibitors
    Darren D Browning; Fiscal Year: 2013
    ..activation by PDE-5 inhibitors on barrier function, inflammation, and tumorigenesis using Prkg2-/- mice and both DSS/AOM and ApcMin/+ mouse cancer models...
  34. Dietary Prevention of Cancer
    Shrikant Anant; Fiscal Year: 2013
    ..efficacy of a combination of curcumin and marmelin in preventing intestinal and colonic tumorigenesis in the AOM/DSS-induced mouse colon cancer model...
  35. Cellular events in heritable peripheral neuropathies
    Lucia Notterpek; Fiscal Year: 2013
    Abstract Heritable demyelinating neuropathies, including Charcot-Marie-Tooth disease type 1A (CMT1A), account for a significant portion of peripheral nerve disorders leading to muscle atrophy and functional impairment...
  36. Molecular pathogenesis of SIMPLE in Charcot-Marie-Tooth disease
    MING HIN LEE; Fiscal Year: 2010
    ..Imaging studies of Schwann cells acquired from human patients and rodent disease models of CMT subtypes (CMT1A and CMT1B) revealed accumulations of peripheral myelin proteins, namely, peripheral myelin protein 22 (PMP22) and ..
  37. 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...
  38. 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, ..
  39. Protease Pathways in the Gastrointestinal Tract
    Toni M Antalis; Fiscal Year: 2010
    ..segments, and dramatically enhances susceptibility to experimental colitis induced by dextran sodium sulfate (DSS)...
  40. Epithelial-derived mediators of neutrophil infiltration in the intestine
    ROSE LINDA SZABADY; Fiscal Year: 2013
    ..and will broaden the applicability of these findings by investigating the regulation of HXA3 activity by AMEND in DSS colitis and T cell transfer, two established mouse models of non-infectious colitis...
  41. The role of the mu-Opioid Receptor in Inflammatory Bowel Disease Pathology and Th
    Jason R Goldsmith; Fiscal Year: 2013
    ..Preliminary data shows that MOR agonist ameliorates DSS colitis. However, the mechanism of action of DSS- mediated protection remains unknown...
  42. 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...
  43. EPIMORPHIN DELETION ALTERS STEM CELL NICHE MYOFIBROBLAST SECRETION
    Anisa Shaker; Fiscal Year: 2012
    ..We will extend these observations to the dextran sodium sulfate (DSS) colitis and azoxymethane (AOM)/DSS CAC models...
  44. 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 ..
  45. Enteric Neuronal Development as a Determinant of Intestinal Inflammation
    Kara Gross Margolis; Fiscal Year: 2013
    ..expression of genes encoding proinflammatory molecules, levels of neutrophil elastase and p50 NF B) of TNBS- and DSS-induced colitis are higher in NSE- noggin and lower in Hand2+/- mice than in their wild-type (WT) littermates...
  46. Development of the orally delivered, non-absorbable ACE inhibitor enalaprilat for
    ELKE LIPKA; Fiscal Year: 2010
    ..We have recently demonstrated the ability to palliate the progression of colitis in a mouse dextran sodium sulfate (DSS) model through blockage of signaling via the inhibition of the angiotensin-converting enzyme (ACE) in the renin-..
  47. ENTEROHEPATIC LIPID FLUX AND APOPROTEIN BIOSYNTHESIS
    NICHOLAS DAVIDSON; Fiscal Year: 2013
    ..intestinal lipotoxicity and that both Mttp-IKO and Apobec-1-/- mice demonstrate increased mortality with DSS colitis which is further exacerbated in the double knockout background...
  48. The developing intestinal immune system in Yersinia enterocolitica infection
    REBECCA D ADKINS; Fiscal Year: 2010
    ..enterocolitica and Salmonella) engineered to express only YopP will be applied to modulate inflammation in DSS-induced colitis in neonates. In addition, cell types critical for Y...
  49. Oral anti-TNF antibody for inflammatory bowel disease
    Daniel E Tracey; Fiscal Year: 2013
    ..antibody specific for murine TNF) significantly reduced the severity of colitis in the well-established TNBS and DSS mouse models of IBD while blood levels remained low...
  50. Eosinophil:M2 Macrophage:CCL11 Axis in Experimental Colitis and Pediatric Cortico
    SIMON PATRICK HOGAN; Fiscal Year: 2013
    ..We will employ S100A9-/-, RAGE-/-, CCR2-/-, CCR2-/-/Il10-/- mice;use DSS- and NSAID-induced Il10-/- models of colitis;generate bone marrow-derived M[unreadable]-specific chimeric mice and ..
  51. Functional Study of Mucin MUC1
    Sandra J Gendler; Fiscal Year: 2013
    ..the periphery, (3) To determine the effect of a lack of Muc1 in myeloid development during dextran sodium sulfate (DSS)-induced colitis and colitis associated cancer (CAC) by using chimeric mice that lack or have Muc1 in the ..
  52. Epithelial-mesenchymal interactions in gut morphogenesis
    Deborah C Rubin; Fiscal Year: 2010
    ..3. Determine mechanisms by which epimorphin deletion ameliorates injury induced by DSS, and whether this enhances carcinogenesis associated with DSS-induced injury/inflammation...
  53. The Role of BVES in Intestinal Repair Programs and Inflammatory Bowel Disease
    Bobak Parang; Fiscal Year: 2013
    ..induce intestinal injury in BVES-/- mice using two complementary animals models of colitis: dextran sodium sulfate (DSS) and Citrobacter rodentium infection...
  54. CYTOKINES AND INFLAMMATORY BOWEL DISEASE
    THERESA TORRES PIZARRO; Fiscal Year: 2013
    ..We will first study the effect of intestinal injury induced by DSS in mice deficient in TL1A and DR3...
  55. Host immunity to commensal gut fungi
    David M Underhill; Fiscal Year: 2013
    ..We have observed that mice lacking Dectin-1 are more susceptible to acute colitis induced by DSS than wild type mice and that this enhanced sensitivity is due to intestinal fungi...
  56. Role and function of prohibitin in intestinal inflammation
    Arianne L Theiss; Fiscal Year: 2013
    ..inflammatory bowel disease (IBD) and experimental colitis, and 4) prohibitin transgenic mice are protected from DSS- and Salmonella typhimurium-induced colitis and oxidative stress...
  57. The Role of Interleukin 23 In Colitis Associated Cancer
    Sergei I Grivennikov; Fiscal Year: 2012
    ..For a long time our lab has used a azoxymethane+DSS induced CAC mouse model to mimic CAC development in humans...
  58. The Role of Interleukin 23 In Colitis Associated Cancer
    Sergei I Grivennikov; Fiscal Year: 2013
    ..For a long time our lab has used a azoxymethane+DSS induced CAC mouse model to mimic CAC development in humans...
  59. Control of colonic motility in health and disease.
    Sushil K Sarna; Fiscal Year: 2012
    ..induced colonic inflammation that mimics the classic features of Crohn's disease, and dextran sodium sulfate (DSS) - induced colonic inflammation that mimics those of ulcerative colitis...
  60. PROSTAGLANDINS IN EPITHELIAL INJURY
    William F Stenson; Fiscal Year: 2013
    ..Hyaluronic acid is produced in response to gastrointestinal injury in the DSS colitis model and in radiation injury in the small intestine. 2...
  61. Regulation of Intestinal Stem Cell Activation in Colitis
    Terrence A Barrett; Fiscal Year: 2013
    ..Data already produced in VilCre/pik3r1fl/fl mice given DSS colitis suggest that PI3K-mediated B-catenin activation plays a major role in wound healing...
  62. The Impact of TLR on Intestinal Tumorigenesis
    Eyal Raz; Fiscal Year: 2010
    ..Thus, in SA-2, we will treat Apc, and Apc mutants (see above) with the colitis-inducing chemical, DSS, followed by oral administration of UO126 or Sorafenib (a RAS-RAF inhibitor)...
  63. 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 ..
  64. 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...
  65. 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 (..
  66. 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 ..
  67. 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 (..
  68. 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...
  69. 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)...
  70. 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 ..
  71. GC-C agonists for colitis-induced CRC
    Kunwar Shailubhai; Fiscal Year: 2009
    ..Recently, we also demonstrated that treatment with SP304 ameliorated GI inflammation in DSS- and TNBS- induced colitis models...
  72. Anti-Flavivirus Immunotherapeutics
    EILEEN NAKANO; Fiscal Year: 2001
    ..infection each year with 250,000 cases of the life-threatening Dengue Hemorrhagic Fever/Dengue Shock Syndrome (DHS/DSS). Treatment options are limited to symptoms management...