PMP22

Summary

Gene Symbol: PMP22
Description: peripheral myelin protein 22
Alias: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, peripheral myelin protein 22, growth arrest-specific protein 3, peripheral myelin protein 22 kDa
Species: human
Products:     PMP22

Top Publications

  1. Li J, Ghandour K, Radovanovic D, Radovanovic D, Shy R, Krajewski K, et al. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007;64:974-8 pubmed
    ..Whether any mutation within the coding region of the PMP22 gene ultimately causes HNPP by reducing the amount of peripheral myelin protein 22 (PMP22) expressed in myelin is also unknown.
  2. Nicholson G, Valentijn L, Cherryson A, Kennerson M, Bragg T, Dekroon R, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994;6:263-6 pubmed
    ..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...
  3. Li J, Parker B, Martyn C, Natarajan C, Guo J. The PMP22 gene and its related diseases. Mol Neurobiol. 2013;47:673-98 pubmed publisher
    Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system...
  4. Jetten A, Suter U. The peripheral myelin protein 22 and epithelial membrane protein family. Prog Nucleic Acid Res Mol Biol. 2000;64:97-129 pubmed
    The peripheral myelin protein 22 (PMP22) and the epithelial membrane proteins (EMP-1, -2, and -3) comprise a subfamily of small hydrophobic membrane proteins...
  5. Parman Y, Plante Bordeneuve V, Guiochon Mantel A, Eraksoy M, Said G. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. Ann Neurol. 1999;45:518-22 pubmed
    ..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...
  6. Patel P, Roa B, Welcher A, Schoener Scott R, Trask B, Pentao L, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992;1:159-65 pubmed
    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...
  7. Snipes G, Suter U, Welcher A, Shooter E. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol. 1992;117:225-38 pubmed
    ..that is repressed after sciatic nerve crush injury and shows homology to both the growth arrest-specific mRNA, gas3 (Manfioletti, G., M. E. Ruaro, G. Del Sal, L. Philipson, and C. Schneider, 1990. Mol. Cell Biol...
  8. Valentijn L, Baas F, Wolterman R, Hoogendijk J, Van Den Bosch N, Zorn I, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992;2:288-91 pubmed
    ..investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A)...
  9. Tong D, Heinze G, Pils D, Wolf A, Singer C, Concin N, et al. Gene expression of PMP22 is an independent prognostic factor for disease-free and overall survival in breast cancer patients. BMC Cancer. 2010;10:682 pubmed publisher
    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...

More Information

Publications88

  1. Nicolaou P, Zamba Papanicolaou E, Koutsou P, Kleopa K, Georghiou A, Hadjigeorgiou G, et al. Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics. Neuroepidemiology. 2010;35:171-7 pubmed publisher
    ..CMT was demyelinating in 52%, axonal in 33% and intermediate in 15% of the patients. Thirteen families had PMP22 duplication, 3 families had the PMP22 S22F mutation, 4 families had GJB1/Cx32 mutations, 2 families had different ..
  2. Hoogendijk J, Hensels G, Gabreëls Festen A, Gabreels F, Janssen E, De Jonghe P, et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet. 1992;339:1081-2 pubmed
    ..This finding has important implications for genetic counselling of isolated patients with HMSN I. ..
  3. Kohl B, Fischer S, Groh J, Wessig C, Martini R. MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy. Am J Pathol. 2010;176:1390-9 pubmed publisher
    ..inherited peripheral neuropathy, is primarily caused by a gene duplication for the peripheral myelin protein-22 (PMP22)...
  4. Chance P, Alderson M, Leppig K, Lensch M, Matsunami N, Smith B, et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993;72:143-51 pubmed
    ..The deleted region appears uniform in all pedigrees and includes the gene for peripheral myelin protein 22 (PMP-22), suggesting that underexpression of PMP-22 may cause HNPP...
  5. Amici S, Dunn W, Murphy A, Adams N, Gale N, Valenzuela D, et al. Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina. J Neurosci. 2006;26:1179-89 pubmed
    b>Peripheral myelin protein 22 (PMP22) is a tetraspan membrane glycoprotein, the misexpression of which is associated with hereditary demyelinating neuropathies...
  6. Lenssen P, Gabreëls Festen A, Valentijn L, Jongen P, van Beersum S, van Engelen B, et al. Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain. 1998;121 ( Pt 8):1451-8 pubmed
    ..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...
  7. Giambonini Brugnoli G, Buchstaller J, Sommer L, Suter U, Mantei N. Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation. Neurobiol Dis. 2005;18:656-68 pubmed
    Point mutations affecting PMP22 can cause hereditary demyelinating and dysmyelinating peripheral neuropathies...
  8. Weterman M, van Ruissen F, de Wissel M, Bordewijk L, Samijn J, van der Pol W, et al. Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. Eur J Hum Genet. 2010;18:421-8 pubmed publisher
    ..phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene...
  9. Russo M, Laura M, Polke J, Davis M, Blake J, Brandner S, et al. Variable phenotypes are associated with PMP22 missense mutations. Neuromuscul Disord. 2011;21:106-14 pubmed publisher
    ..The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene...
  10. Meggouh F, de Visser M, Arts W, De Coo R, van Schaik I, Baas F. Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease. Ann Neurol. 2005;57:589-91 pubmed
    ..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-..
  11. Valentijn L, Bolhuis P, Zorn I, Hoogendijk J, van den Bosch N, Hensels G, et al. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992;1:166-70 pubmed
    Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2...
  12. Winter W, Juel V. Hypoglossal neuropathy in hereditary neuropathy with liability to pressure palsy. Neurology. 2003;61:1154-5 pubmed
  13. Matsunami N, Smith B, Ballard L, Lensch M, Robertson M, Albertsen H, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992;1:176-9 pubmed
    Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2...
  14. Gabreëls Festen A, Bolhuis P, Hoogendijk J, Valentijn L, Eshuis E, Gabreels F. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol. 1995;90:645-9 pubmed
    ..5 Mb on chromosome 17p 11.2-p12 encompassing the gene for the peripheral myelin protein PMP22, or from point mutations in this gene...
  15. Nelis E, Holmberg B, Adolfsson R, Holmgren G, Van Broeckhoven C. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?. Nat Genet. 1997;15:13-4 pubmed
  16. Wilson H, Wilson S, Surprenant A, North R. Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. J Biol Chem. 2002;277:34017-23 pubmed
    ..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. ..
  17. Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk J, Baas F, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul Disord. 1991;1:93-7 pubmed
    ..These findings led us to propose that the duplication in 17p11.2 itself is the disease causing mutation in all the HMSN I families analyzed. ..
  18. Steiner I, Gotkine M, Steiner Birmanns B, Biran I, Silverstein S, Abeliovich D, et al. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol. 2008;255:813-9 pubmed publisher
    ..5 Mb tandem duplication in chromosome 17p11.2, containing the PMP22 gene. This mutation is not modified during inheritance...
  19. Chanson J, Echaniz Laguna A, Blanc F, Lacour A, Ballonzoli L, Kremer S, et al. Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study. J Neurol Neurosurg Psychiatry. 2013;84:392-7 pubmed publisher
    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 (..
  20. Dickson K, Bergeron J, Shames I, Colby J, Nguyen D, Chevet E, et al. Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases. Proc Natl Acad Sci U S A. 2002;99:9852-7 pubmed
    ..Sequestration of CNX in intracellular myelin-like figures may be relevant to the autosomal dominant Charcot-Marie-Tooth-related neuropathies. ..
  21. Verhagen W, Huygen P, Gabreëls Festen A, Engelhart M, Van Mierlo P, van Engelen B. Sensorineural hearing impairment in patients with Pmp22 duplication, deletion, and frameshift mutations. Otol Neurotol. 2005;26:405-14 pubmed
    ..Ambulatory patients in a university hospital. Twelve patients with HMSN-1a due to a duplication of the PMP22 gene on chromosome 17p11...
  22. Numakura C, Lin C, Oka N, Akiguchi I, Hayasaka K. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. Ann Neurol. 2000;47:101-3 pubmed
    ..We found that she had a 1.5-megabase deletion in chromosome 17p11.2-p12 containing the peripheral myelin protein 22 gene (PMP22) and an Arg157Gly mutation of PMP22...
  23. Sacksteder K, Jones J, South S, Li X, Liu Y, Gould S. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J Cell Biol. 2000;148:931-44 pubmed
    ..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. ..
  24. Suter U, Snipes G, Schoener Scott R, Welcher A, Pareek S, Lupski J, et al. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. J Biol Chem. 1994;269:25795-808 pubmed
    Mutations affecting the peripheral myelin protein-22 (PMP22) gene have been shown to be associated with inherited peripheral neuropathies...
  25. Lupski J, de Oca Luna R, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991;66:219-32 pubmed
    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...
  26. de Vries S, Verhamme C, van Ruissen F, van Paassen B, Arts W, Kerkhoff H, et al. The phenotype of the Gly94fsX222 PMP22 insertion. J Peripher Nerv Syst. 2011;16:113-8 pubmed publisher
    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)...
  27. Song W, Li Q, Ryu M, Ahn J, Ha Bhang D, Chan Jung Y, et al. TSG-6 Secreted by Human Adipose Tissue-derived Mesenchymal Stem Cells Ameliorates DSS-induced colitis by Inducing M2 Macrophage Polarization in Mice. Sci Rep. 2017;7:5187 pubmed publisher
    ..In conclusion, hAT-MSC-produced TSG-6 can ameliorate IBD by inducing M2 macrophage switch in mice. ..
  28. Chen W, Pu A, Sheng B, Zhang Z, Li L, Liu Z, et al. Aryl hydrocarbon receptor activation modulates CD8??+TCR??+ IELs and suppression of colitis manifestations in mice. Biomed Pharmacother. 2017;87:127-134 pubmed publisher
    ..of action of the aryl hydrocarbon receptor on the intestinal mucosal immune system in dextran sulfate sodium (DSS)-induced colitis. Colitis was induced by the administration of 3% DSS to wild-type C57BL/6J mice for 7days...
  29. Catanuto G, Pappalardo F, Rocco N, Leotta M, Ursino V, Chiodini P, et al. Formal analysis of the surgical pathway and development of a new software tool to assist surgeons in the decision making in primary breast surgery. Breast. 2016;29:74-81 pubmed publisher
    ..We created a decision support system software tool (DSS) and an interactive decision tree...
  30. Guo J, Zhou L, Yao C, Hu J. Surface Subsidence Analysis by Multi-Temporal InSAR and GRACE: A Case Study in Beijing. Sensors (Basel). 2016;16: pubmed publisher
    ..InSAR) technique, which can simultaneously detect point-like stable reflectors (PSs) and distributed scatterers (DSs), was used to retrieve the subsidence magnitude and distribution in Beijing using 18 ENVISAT ASAR images...
  31. Diao N, Zhang Y, Chen K, Yuan R, Lee C, Geng S, et al. Deficiency in Toll-interacting protein (Tollip) skews inflamed yet incompetent innate leukocytes in vivo during DSS-induced septic colitis. Sci Rep. 2016;6:34672 pubmed publisher
    ..The inflamed and incompetent neutrophil phenotype was also observed in vivo in Tollip deficient mice subjected to DSS-induced colitis...
  32. Torres Ferreira J, Ramalho Carvalho J, Gomez A, Menezes F, Freitas R, Oliveira J, et al. MiR-193b promoter methylation accurately detects prostate cancer in urine sediments and miR-34b/c or miR-129-2 promoter methylation define subsets of clinically aggressive tumors. Mol Cancer. 2017;16:26 pubmed publisher
    ..Biomarkers' diagnostic (validity estimates) and prognostic [disease-free (DFS) and disease-specific survival (DSS)] performance was assessed...
  33. Wang Y, Wang H, Qian C, Tang J, Zhou W, Liu X, et al. 3-(2-Oxo-2-phenylethylidene)-2,3,6,7-tetrahydro-1H-pyrazino[2,1-a]isoquinolin-4(11bH)-one (compound 1), a novel potent Nrf2/ARE inducer, protects against DSS-induced colitis via inhibiting NLRP3 inflammasome. Biochem Pharmacol. 2016;101:71-86 pubmed publisher
    ..compound 1) can prevent the development of colorectal adenomas in AOM-DSS models...
  34. Wu Y, Guo Z, Liu F, Yao K, Gao M, Luo Y, et al. Sp110 enhances macrophage resistance to Mycobacterium tuberculosis via inducing endoplasmic reticulum stress and inhibiting anti-apoptotic factors. Oncotarget. 2017;8:64050-64065 pubmed publisher
    ..3 million deaths annually. Expression of the mouse Sp110 nuclear body protein (Sp110) upregulates the apoptotic pathway, which plays an essential role in enhancing host ..
  35. Jeon H, Lee S, Kim G, Park D, Lee B, Song G. Endoscopic submucosal dissection for undifferentiated-type early gastric cancer: short- and long-term outcomes. Surg Endosc. 2018;32:1963-1970 pubmed publisher
    ..rates of en bloc, complete, and curative resections along with overall survival (OS), disease-specific survival (DSS), and recurrence-free survival (RFS)...
  36. El Ashmawy N, Khedr N, El Bahrawy H, El Adawy S. Downregulation of iNOS and elevation of cAMP mediate the anti-inflammatory effect of glabridin in rats with ulcerative colitis. Inflammopharmacology. 2018;26:551-559 pubmed publisher
    ..The study aimed to investigate the possible protective role of Gla against dextran sulphate sodium (DSS)-induced ulcerative colitis (UC) in rats and to clarify the molecular mechanisms underlying Gla function...
  37. Shi L, Huang L, He R, Huang W, Wang H, Lai X, et al. Modeling the Pathogenesis of Charcot-Marie-Tooth Disease Type 1A Using Patient-Specific iPSCs. Stem Cell Reports. 2018;10:120-133 pubmed publisher
    ..disease type 1A (CMT1A), one of the most frequent inherited peripheral neuropathies, is associated with PMP22 gene duplication...
  38. Yui S, Azzolin L, Maimets M, Pedersen M, Fordham R, Hansen S, et al. YAP/TAZ-Dependent Reprogramming of Colonic Epithelium Links ECM Remodeling to Tissue Regeneration. Cell Stem Cell. 2018;22:35-49.e7 pubmed publisher
    ..Here we dissect cell fate transitions during colonic regeneration in a mouse dextran sulfate sodium (DSS) colitis model, and we demonstrate that the epithelium is transiently reprogrammed into a primitive state...
  39. Sharma S, Singh S, Kakkar K, Nyari N, Singh D, Dhole T, et al. Association of ICAM-1 K469E polymorphism with dengue infection in North Indian population. Microb Pathog. 2016;96:80-4 pubmed publisher
    ..A total of 100 dengue patients (DF; n = 53 and DHF/DSS; n = 47) and 200 healthy controls were included in the study...
  40. Zhao H, Damle S, Ikeda Lee K, Kuntz S, Li J, Mohan A, et al. PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models. J Clin Invest. 2017;: pubmed publisher
    Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral neuropathy...
  41. Akasaka K, Tanaka T, Kitamura N, Ohkouchi S, Tazawa R, Takada T, et al. Outcome of corticosteroid administration in autoimmune pulmonary alveolar proteinosis: a retrospective cohort study. BMC Pulm Med. 2015;15:88 pubmed publisher
    ..We collected demographic data and information about corticosteroid treatment period, dose, disease severity score (DSS) over the treatment period, and complications. DSS deteriorated during corticosteroid therapy in 23 cases (74...
  42. Yu C, Zhang S, Wang Y, Zhang S, Luo L, Thorlacius H. Platelet-Derived CCL5 Regulates CXC Chemokine Formation and Neutrophil Recruitment in Acute Experimental Colitis. J Cell Physiol. 2016;231:370-6 pubmed publisher
    ..Acute colitis is induced in female Balb/c mice by administration of 5% dextran sodium sulfate (DSS) for 5 days...
  43. Li W, Wei Y, Huang C, Ke H, Li C, Yeh H, et al. Matrix metalloproteinase-11 as a marker of metastasis and predictor of poor survival in urothelial carcinomas. J Surg Oncol. 2016;113:700-7 pubmed publisher
    ..study, MMP-11 expression was correlated with clinicopathologic features and with disease-specific survival (DSS) and metastasis-free survival (MeFS)...
  44. Karuppuchamy T, Behrens E, González Cabrera P, Sarkisyan G, Gima L, Boyer J, et al. Sphingosine-1-phosphate receptor-1 (S1P1) is expressed by lymphocytes, dendritic cells, and endothelium and modulated during inflammatory bowel disease. Mucosal Immunol. 2017;10:162-171 pubmed publisher
    ..mice, the regulation of S1P1 expression in lymphocytes after administration of dextran sulfate sodium (DSS), after colitis induced by transfer of CD4+CD45RBhi cells, and by crossing a mouse with TNF-..
  45. Kim S, Manzerova J, Christos P, Wernicke A, Parashar B. Impact of Radiation Therapy in Surgically Resected Limited-Stage Small Cell Lung Carcinoma. Lung. 2017;195:341-346 pubmed publisher
    ..Kaplan-Meier analysis was utilized to determine disease-specific survival (DSS) and overall survival (OS), while multivariate analysis was used to compare survival in terms of patients and ..
  46. Zheng X, Lv Y, Li S, Zhang Q, Zhang X, Hao Z. Adeno-associated virus-mediated colonic secretory expression of HMGB1 A box attenuates experimental colitis in mice. J Gene Med. 2016;18:261-272 pubmed publisher
    ..The effects of intracolonically administered AAV-HMGB1 A box on dextran sulfate sodium (DSS)- and 2,4,6-trinitrobenzene sulfonic acid (TNBS)-induced colitis were assessed by the disease activity index (DAI), ..
  47. Gao S, Wu X, Zhang Y, Li K, Wang L, Liu G. Tripterygium wilfordii polyglycosidium ameliorates pouchitis induced by dextran sulfate sodium in rats. Int Immunopharmacol. 2017;43:108-115 pubmed publisher
    ..the therapeutic effects of Tripterygium wilfordii polyglycosidium (TWP) to rats with dextran sulfate sodium (DSS)-induced pouchitis and its possible mechanism...
  48. Bibi S, Kang Y, Du M, Zhu M. Dietary red raspberries attenuate dextran sulfate sodium-induced acute colitis. J Nutr Biochem. 2018;51:40-46 pubmed publisher
    ..beneficial effect on the colitis protection was evaluated in the current study using a dextran sulfate sodium (DSS)-induced acute colitis mouse model...
  49. Gao X, Li T, Wei B, Yan Z, Hu N, Huang Y, et al. Bacterial Outer Membrane Vesicles from Dextran Sulfate Sodium-Induced Colitis Differentially Regulate Intestinal UDP-Glucuronosyltransferase 1A1 Partially Through Toll-Like Receptor 4/Mitogen-Activated Protein Kinase/Phosphatidylinositol 3-Kinase Pat. Drug Metab Dispos. 2018;46:292-302 pubmed publisher
    ..This study verified the involvement of gut microbiota in intestinal UGT1A1 regulation using dextran sulfate sodium (DSS)-induced rat colitis model plus fecal microbiota transplantation (FMT)...
  50. Schlebach J, Narayan M, Alford C, Mittendorf K, Carter B, Li J, et al. Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22. J Am Chem Soc. 2015;137:8758-68 pubmed publisher
    ..conformational equilibrium and cellular trafficking of 12 variants of the α-helical membrane protein peripheral myelin protein 22 (PMP22), the intracellular misfolding of which is known to cause peripheral neuropathies associated ..
  51. Miao X, Sun X, Cui L, Cao Q, Zhuang G, Deng T, et al. Suppressive effect of pectic polysaccharides extracted from Rauwolfia verticillata (Lour.) Baill.var.hainanensis Tsiang on inflammation by regulation of NF- κ B pathway and interleukin-17 in mice with dextran sulphatesodium-induced ulcerative colitis. Asian Pac J Trop Med. 2015;8:147-52 pubmed publisher
    ..Experimental colitis was induced by dextran sulfate sodium (DSS), and mice were divided into 4 groups: control, DSS alone, DSS plus SASP, DSS plus pectic polysaccharides...
  52. Yang N, Xia Z, Shao N, Li B, Xue L, Peng Y, et al. Carnosic acid prevents dextran sulfate sodium-induced acute colitis associated with the regulation of the Keap1/Nrf2 pathway. Sci Rep. 2017;7:11036 pubmed publisher
    ..the loss of body weight and shortening of colon length in acute colitis induced by dextran sodium sulfate (DSS). Pronounced infiltration of immune cells and a loss of crypt architecture and goblet cells were ameliorated by CA...
  53. Mersiyanova I, Ismailov S, Polyakov A, Dadali E, Fedotov V, Nelis E, et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2000;15:340-7 pubmed
    ..hereditary neuropathy with liability to pressure palsies (HNPP), are caused by mutations in three myelin genes: PMP22, MPZ and Cx32 (GJB1). The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11...
  54. Abe K, Lino A, Hirata M, Pavanello R, Brotto M, Marchiori P, et al. A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscul Disord. 2004;14:313-20 pubmed
    The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability...
  55. Zhang C, Zhang S, He W, Lu J, Xu Y, Yang J, et al. Baicalin may alleviate inflammatory infiltration in dextran sodium sulfate-induced chronic ulcerative colitis via inhibiting IL-33 expression. Life Sci. 2017;186:125-132 pubmed publisher
    ..UC model were established by giving three cycles of 5-day 2% dextran sodium sulfate (DSS) with two intervals of 14-day recovery in mice, totaling 43days...
  56. Salmenkari H, Holappa M, Forsgård R, Korpela R, Vapaatalo H. Orally administered angiotensin-converting enzyme-inhibitors captopril and isoleucine-proline-proline have distinct effects on local renin-angiotensin system and corticosterone synthesis in dextran sulfate sodium-induced colitis in mice. J Physiol Pharmacol. 2017;68:355-362 pubmed
    ..Contrary to previous studies, captopril did not alleviate DSS-induced colitis...
  57. Pozos Ochoa L, Lino Silva L, León Takahashi A, Salcedo Hernández R. Prognosis of Signet Ring Cell Carcinoma of the Colon and Rectum and their Distinction of Mucinous Adenocarcinoma with Signet Ring Cells. A Comparative Study. Pathol Oncol Res. 2018;24:609-616 pubmed publisher
    ..For the MAC with SRC and SRCC groups, the median disease-specific survival (DSS) was 46.1 months (95% CI 36.9-55.25) and 22.4 months (95% CI 5.1-39.7 [p = 0.039]), respectively...
  58. Polgar O, Robey R, Morisaki K, Dean M, Michejda C, Sauna Z, et al. Mutational analysis of ABCG2: role of the GXXXG motif. Biochemistry. 2004;43:9448-56 pubmed
    ..impaired function, the mutants retained susceptibility to cross-linking using either disuccinimidyl suberate (DSS) or the reducible dithiobis(succinimidyl propionate) (DSP) and demonstrated a high molecular weight complex under ..
  59. Afaloniati H, Karagiannis G, Hardas A, Poutahidis T, Angelopoulou K. Inflammation-driven colon neoplasmatogenesis in uPA-deficient mice is associated with an increased expression of Runx transcriptional regulators. Exp Cell Res. 2017;361:257-264 pubmed publisher
    ..intestinal neoplasmatogenesis, in which chronic colitis and CRC are induced using dextran sodium sulfate (DSS)...
  60. Jiang X, Huang X, Yang Z, Wang S, Xie W, Miao L, et al. Iguratimod ameliorates inflammatory responses by modulating the Th17/Treg paradigm in dextran sulphate sodium-induced murine colitis. Mol Immunol. 2018;93:9-19 pubmed publisher
    ..The aim of this study was to investigate whether iguratimod ameliorates dextran sulphate sodium (DSS)-induced murine colitis and its potential regulatory mechanism. Murine colitis was induced by administering 2...
  61. Adedara I, Ajayi B, Awogbindin I, Farombi E. Interactive effects of ethanol on ulcerative colitis and its associated testicular dysfunction in pubertal BALB/c mice. Alcohol. 2017;64:65-75 pubmed publisher
    ..Group II mice received ethanol alone at 5 g/kg body weight. Group III mice received 2.5% dextran sulphate sodium (DSS) in drinking water followed by normal drinking water...
  62. Deng J, Zeng L, Lai X, Li J, Liu L, Lin Q, et al. Metformin protects against intestinal barrier dysfunction via AMPK?1-dependent inhibition of JNK signalling activation. J Cell Mol Med. 2018;22:546-557 pubmed publisher
    ..We showed that metformin alleviated dextran sodium sulphate (DSS)-induced decreases in transepithelial electrical resistance, FITC-dextran hyperpermeability, loss of the tight ..
  63. Nason G, Redmond E, Considine S, Omer S, Power D, Sweeney P. The natural history of Leydig cell testicular tumours: an analysis of the National Cancer Registry. Ir J Med Sci. 2018;187:323-326 pubmed publisher
    ..Recurrence free survival (RFS) and disease-specific survival (DSS) were analysed. Between 1994 and 2013, 2755 new cases of testicular cancer were diagnosed in Ireland...
  64. Agrahari A, C G. A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22. J Cell Biochem. 2017;118:3730-3743 pubmed publisher
    Mutations in the Peripheral Myelin Protein 22 (PMP22) leads to Charcot Marie Tooth type 1A (CMT1A, a subtype of CMT1) disease which is the most common inherited neuropathy of peripheral nervous system...
  65. Sabéran Djoneidi D, Sanguedolce V, Assouline Z, Levy N, Passage E, Fontes M. Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene. 2000;248:223-31 pubmed
    PMP22, one of the major components of myelin, is overexpressed in Charcot-Marie-Tooth type 1A (CMT1A) patients...
  66. Oh S, Ok S, Jung T, Jeon S, Park J, Jung J, et al. Protective effect of decursin and decursinol angelate-rich Angelica gigas Nakai extract on dextran sulfate sodium-induced murine ulcerative colitis. Asian Pac J Trop Med. 2017;10:864-870 pubmed publisher
    ..effects of decursin and decursinol angelate-rich Angelica gigas Nakai (AGNE) on dextran sulfate sodium (DSS)-induced murine ulcerative colitis (UC)...
  67. Jones E, Brewer M, Srinivasan R, Krueger C, Sun G, Charney K, et al. Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Hum Mol Genet. 2012;21:1581-91 pubmed publisher
    ..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 ..
  68. Patel P, Lupski J. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet. 1994;10:128-33 pubmed
  69. de Aguiar C, Castoldi A, Andrade Oliveira V, Ignacio A, da Cunha F, Felizardo R, et al. Mesenchymal stromal cells modulate gut inflammation in experimental colitis. Inflammopharmacology. 2018;26:251-260 pubmed publisher
    ..In this study, we explored the immunomodulatory potential of ADMSC in a classical model of DSS-induced colitis...
  70. Soundravally R, Hoti S. Immunopathogenesis of dengue hemorrhagic fever and shock syndrome: role of TAP and HPA gene polymorphism. Hum Immunol. 2007;68:973-9 pubmed publisher
    ..outcomes of dengue infection such as dengue fever (DF), dengue hemorrhagic fever (DHF), and dengue shock syndrome (DSS) could be attributed to host genetic factors...
  71. Logroscino G, Del Tedesco F, Cambise C, Coraci D, Donati F, Santilli V, et al. Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability. Orthop Traumatol Surg Res. 2016;102:529-31 pubmed publisher
  72. Scurry A, Heredia D, Feng C, Gephart G, Hennig G, Gould T. Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy. J Neuropathol Exp Neurol. 2016;75:334-46 pubmed publisher
    Mutations in peripheral myelin protein 22 (PMP22) result in the most common form of Charcot-Marie-Tooth (CMT) disease, CMT1A...
  73. Wu Y, Yang W, Hu Y, Hsieh C, Yang K, Lai I, et al. Definitive Radiotherapy for Older Patients with Prostate Cancer: Experience of a Medical Center in Taiwan. Sci Rep. 2017;7:13880 pubmed publisher
    ..5-year biochemical failure-free survival(BFFS), distant metastasis-free survival(DMFS), disease-specific survival(DSS), and overall survival(OS) rates were 84.9%, 93.8%, 97.8%, and 86.6%, respectively, for all patients...
  74. Lai C, Yang G, Li S, Lee P, Wang B, Chung M, et al. 3'-Hydroxypterostilbene Suppresses Colitis-Associated Tumorigenesis by Inhibition of IL-6/STAT3 Signaling in Mice. J Agric Food Chem. 2017;65:9655-9664 pubmed publisher
    ..underlying molecular mechanisms on colitis-associated cancer using the azoxymethane (AOM)/dextran sodium sulfate (DSS) model...
  75. Nairz M, Haschka D, Dichtl S, Sonnweber T, Schroll A, Aßhoff M, et al. Cibinetide dampens innate immune cell functions thus ameliorating the course of experimental colitis. Sci Rep. 2017;7:13012 pubmed publisher
    ..We used dextran sulphate sodium (DSS) to induce colitis in C57BL/6?N mice...
  76. Higashiguchi T, Ito A, Nishiyama H, Shigematsu T, Ishikawa A, Kato H, et al. Appropriate nutritional management in patients with impaired mastication and those with mild dysphagia: a multicenter study of the usefulness of novel foods processed and softened by enzymes. Asia Pac J Clin Nutr. 2017;26:1007-1015 pubmed publisher
    ..0±11.0 years) with dysphagia due to Occasional aspiration (4 points on the Dysphagia Severity Scale [DSS]) or Oral problems (5 points) randomly assigned to the study diet (iEAT) or its opposite (the modified traditional [..
  77. Karadima G, Koutsis G, Raftopoulou M, Karletidi K, Zambelis T, Karandreas N, et al. Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience. J Peripher Nerv Syst. 2015;20:79-85 pubmed publisher
    ..5-Mb 17p11.2 deletion and even scarcer data regarding the overall frequency of PMP22 micromutations in patients with a clinical suspicion of hereditary neuropathy with liability to pressure palsies (..
  78. Li C, Chen X, Shao X, Wei T, Wang P, Xie B, et al. Mechanistic Insight into Trimethylamine N-Oxide Recognition by the Marine Bacterium Ruegeria pomeroyi DSS-3. J Bacteriol. 2015;197:3378-87 pubmed publisher
    ..However, it was not known how TMAO is recognized and imported by bacteria. Ruegeria pomeroyi DSS-3, a marine Roseobacter, has an ATP-binding cassette transporter, TmoXWV, specific for TMAO...
  79. Li R, Zhang Y, Polk D, Tomasula P, Yan F, Liu L. Preserving viability of Lactobacillus rhamnosus GG in vitro and in vivo by a new encapsulation system. J Control Release. 2016;230:79-87 pubmed publisher
    ..inflammation by LGG, mice were gavaged with LGG containing beads and treated with dextran sulphate sodium (DSS) to induce intestinal injury and colitis...