| 1 | EGR2, PMP22, SOX10, TEAD1
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| Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
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| Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J.
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| Hum Mol Genet 25(14):3055-3069. Epub 2016 Jun 10.
2016
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| 2 | CMT1A, PMP22
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| Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication.
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| Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, Divincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR.
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| Am J Hum Genet 94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13.
2014
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| 3 | CDRT4, CMT1A, HNPP, PMP22, TEKT3
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| Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
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| Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J.
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| Hum Mol Genet 21(7):1581-91. doi: 10.1093/hmg/ddr595. Epub 2011 Dec 15.
2012
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| 4 | HNPP, PMP22
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| Variable phenotypes are associated with PMP22 missense mutations.
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| Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM.
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| Neuromuscul Disord 21(2):106-14. Epub 2010 Dec 30.
2011
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| 5 | PMP22
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| Regulation of the PMP22 gene through an intronic enhancer.
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| Jones EA, Lopez-Anido C, Srinivasan R, Krueger C, Chang LW, Nagarajan R, Svaren J.
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| J Neurosci. 31(11):4242-50. 2011
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| 6 | CMT1A, HNPP, PMP22
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| Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
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| Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.
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| Am J Hum Genet 86(6):892-903. Epub 2010 May 20.PMID: 20493460 [ 2010
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| 7 | CANX, PMP22
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| Calnexin deficiency leads to dysmyelination.
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| Kraus A, Groenendyk J, Bedard K, Baldwin TA, Krause KH, Dubois-Dauphin M, Dyck J, Rosenbaum EE, Korngut L, Colley NJ, Gosgnach S, Zochodne D, Todd K, Agellon LB, Michalak M.
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| J Biol Chem 285(24):18928-38. Epub 2010 Apr 16. 2010
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| 8 | DSS1, PMP22
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| Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1.
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| Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K.
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| J Hum Genet 55(11):771-3. Epub 2010 Aug 26.
2010
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| 9 | DSS1, PMP22
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| Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.
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| Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM.
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| Am J Med Genet A 146A(18):2412-6.
2008
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| 10 | HNPP, PMP22
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| Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
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| Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.
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| Arch Neurol 64(7):974-8. Erratum in: Arch Neurol. 2007 Oct;64(10):1547. Radovanovic, Danuijola [corrected to Radovanovic, Danijela].
2007
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| 11 | PMP22
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| Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression.
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| Fortun J, Go JC, Li J, Amici SA, Dunn WA Jr, Notterpek L.
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| Neurobiol Dis 22(1):153-64. Epub 2005 Dec 2. 2006
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| 12 | LITAF, PMP22, CMT1A, CMT1C, CMT1E
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| Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
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| Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F.
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| Ann Neurol 57(4):589-91. 2005
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| 13 | DSS1,PMP22
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| Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
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| Jen J, Baloh RH, Ishiyama A, Baloh RW.
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| J Neurol Sci 237(1-2):21-4. 2005
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| 14 | PMP22
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| Recessive, but not dominant, mutations in peripheral myelin protein 22 gene show unique patterns of aggregation and intracellular trafficking.
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| Liu N, Yamauchi J, Shooter EM.
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| Neurobiol Dis 17(2):300-9. 2004
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| 15 | PMP22, AIDP
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| Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion.
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| Korn-Lubetzki I, Argov Z, Raas-Rothschild A, Wirguin I, Steiner I.
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| Am J Med Genet 113(3):275-8. 2002
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| 16 | PMP22
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| Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases.
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| Dickson KM, Bergeron JJ, Shames I, Colby J, Nguyen DT, Chevet E, Thomas DY, Snipes GJ.
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| Proc Natl Acad Sci U S A. 99(15):9852-7. 2002
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| 17 | CDRT@, CDRT1, CDRT11, CDRT12, CDRT13, CDRT14, CDRT15, CDRT2, CDRT3, CDRT4, CDRT5, CDRT6, CDRT7, CDRT8, CDRT9, CDRT10, CMT1AREPT, HS3ST3A1, HS3ST3B1, PMP22, TEKT3, CDRT15P
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| 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.
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| Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B.
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| Genome Res 11(6):1018-33. 2001
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| 18 | PMP22
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| Peripheral myelin protein 22 is a constituent of intercellular junctions in epithelia.
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| Notterpek L, Roux KJ, Amici SA, Yazdanpour A, Rahner C, Fletcher BS.
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| Proc Natl Acad Sci U S A 98(25):14404-9. 2001
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| 19 | PMP22
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| Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.
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| Hai M, Bidichandani SI, Patel PI.
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| J Neurosci Res 65(6):508-19. 2001
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| 20 | HNPP, PMP22
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| Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.
|
| Nadal M, Valiente A, Domenech A, Pritchard M, Estivill X, Ramos-Arroyo MA.
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| J Med Genet 37(5):396-8. No abstract available. 2000
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| 21 | PMP22
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| Molecular dissection of the Schwann cell specific promoter of the PMP22 gene.
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| Saberan-Djoneidi D, Sanguedolce V, Assouline Z, Levy N, Passage E, Fontes M.
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| Gene 248(1-2):223-31. 2000
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| 22 | PMP22
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| Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22.
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| Niemann S, Sereda MW, Suter U, Griffiths IR, Nave KA.
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| J Neurosci. 20(11):4120-8. 2000
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| 23 | PMP22
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| Identification of two new Pmp22 mouse mutants using large-scale mutagenesis and a novel rapid mapping strategy
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| Isaacs AM, Davies KE, Hunter AJ, Nolan PM, Vizor L, Peters J, Gale DG, Kelsell DP, Latham ID, Chase JM, Fisher EM, Bouzyk MM, Potter A, Masih M, Walsh FS, Sims MA, Doncaster KE, Parsons CA, Martin J, Brown SD, Rastan S, Spurr NK, Gray IC.
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| Hum Mol Genet. 9(12):1865-71. 2000
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| 24 | HNPP, PMP22
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| DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
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| Potocki L, et al.
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| Am J Hum Genet 64(2):471-8. 1999
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| 25 | CMT1A, PMP22
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| Effects of PMP22 duplication and deletions on the axonal cytoskeleton.
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| Sahenk Z, et al.
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| Ann Neurol 45(1):16-24. 1999
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| 26 | PMP22, CMT1A
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| A unique point mutation in the PMP22 gene is associated with charcot-marie-tooth disease and deafness.
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| Kovach MJ, et al.
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| Am J Hum Genet 64(6):1580-93. 1999
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| 27 | PMP22, MPZ
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| Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin.
|
| D'Urso D, et al.
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| J Neurosci 19(9):3396-403. 1999
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| 28 | CMT1A, HNPP, PMP22
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| Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP.
|
| Lopes J, et al.
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| Hum Mol Genet 8(12):2285-2292 1999
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| 29 | CMT1A, PMP22
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| Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.
|
| Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N.
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| Neurology 53(4):846-51 1999
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| 30 | CMT1A, DSS1, PMP22
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| Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
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| Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G.
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| Ann Neurol 45(4):518-22. 1999
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| 31 | CMT1A, PMP22
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| Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
|
| Ikegami T, et al.
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| Hum Genet 102 : 294-298. 1998
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| 32 | HNPP, PMP22
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| Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.
|
| Stogbauer F, Young P, Kerschensteiner M, Ringelstein EB, Assmann G, Funke H.
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| Muscle Nerve 21 : 1199-1201. 1998
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| 33 | PMP22, RLAD
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| Roussy-Levy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome IA associated with a duplication on chromosome 17p11.2.
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| Auer-Grumbach M, Strasser-Fuchs S, Wagner K, Korner E, Fazekas F.
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| J Neurol Sci 154(1):72-5. 1998
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| 34 | CMT1A, PMP22
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| Prevalence and parental origin of De novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.
|
| Bort S, et al.
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| Am J Hum Genet 60 : 230-233. 1997
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| 35 | CMT1A, PMP22
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| Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
|
| Ionasescu VV, et al.
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| Muscle Nerve 20 : 97-99. 1997
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| 36 | CMT1A, CMT1AREPC, CMT1AREPT, PMP22
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| Detection of the CMT1A/HNPP recombination hotsport in unrelated patients of European descent.
|
| Timmerman V, et al.
|
| J Med Genet 34 : 43-49. 1997
|
| 37 | CMT1A, PMP22
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| Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
|
| Leguern E, et al.
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| Ann Neurol 41 : 104-108. 1997
|
| 38 | CMT1A, HNPP, PMP22
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| Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.
|
| Haupt A, Schols L, Przuntek H, Epplen JT.
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| Hum Genet 99(5):688-91. 1997
|
| 39 | CMT1A, PMP22
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| Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.
|
| Ikegami T, Ikeda H, Chance PF, Kiyosawa H, Yamamoto M, Sobue G, Ohnishi A, Tachi N, Hayasaka K.
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| Hum Mutat 9(6):563-6. 1997
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| 40 | CMT1A, HNPP, PMP22
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| The phenotypic manifestations of chromosome 17p11.2 duplication.
|
| Thomas PK, et al.
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| Brain 120 : 465-478. 1997
|
| 41 | CMT1A, PMP22
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| Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type 1A neuropathy. (abstr)
|
| Roa BB, et al.
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| Hum Genet 97(5):642-9. 1996
|
| 42 | PMP22, HNPP
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| Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
|
| Timmerman V, et al.
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| Hum Genet 97 : 26-34. 1996
|
| 43 | CMT1A, PMP22
|
| Prevalence and origin of De novo duplications in Charcot-Marie-Tooth disease type 1A : first report of a de novo duplication with a maternal origin.
|
| Blair IP, et al.
|
| Am J Hum Genet 58 : 472-476. 1996
|
| 44 | CMT1A, PMP22
|
| A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease.
|
| Navon R, et al.
|
| Hum Genet 97 : 685-687. 1996
|
| 45 | CMT1A, PMP22
|
| Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy.
|
| Roa BB, et al.
|
| Hum Genet 97 : 642-649. 1996
|
| 46 | CMT1A, HNPP, PMP22
|
| Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP) : new molecular tools for the study of the region 17p12-p11 and for diagnosis.
|
| LeGuern E, et al.
|
| Cytogenet Cell Genet 72 : 20-25. 1996
|
| 47 | CMT1A, PMP22
|
| Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.
|
| Liehr T, et al.
|
| Hum Genet 98 : 22-28. 1996
|
| 48 | CMT1A, HNPP, PMP22, CMT1E
|
| Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study.
|
| Nelis E, et al.
|
| Eur J Hum Genet 4 : 25-33. 1996
|
| 49 | CMT1A, HNPP, PMP22
|
| Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies.
|
| Kaneko S, et al.
|
| Muscle Nerve 19 : 675-676. 1996
|
| 50 | CMT1A, PMP22
|
| Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness : De novo dominant point mutation of the PMP22 gene.
|
| Ionasescu VV, et al.
|
| J Med Genet 33 : 1048-1049. 1996
|
| 51 | CMT1A, PMP22
|
| A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
|
| Murakami T, et al.
|
| Genomics 34 : 128-133. 1996
|
| 52 | PMP22
|
| A transgenic rat model of Charcot-Marie-Tooth disease.
|
| Sereda M, Griffiths I, Pühlhofer A, Stewart H, Rossner MJ, Zimmerman F, Magyar JP, Schneider A, Hund E, Meinck HM, Suter U, Nave KA.
|
| Neuron. 16(5):1049-60. 1996
|
| 53 | CMT1A, PMP22
|
| DŽjŽrine-Sottas neuropathy is associated with a De novo PMP22 mutation.
|
| Valentijn LJ, et al.
|
| Hum Mutat 5 : 76-80. 1995
|
| 54 | HNPP, PMP22
|
| Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy - two genetically distinct disorders.
|
| Windebank AJ, et al.
|
| Mayo Clin Proc 70 : 743-746. 1995
|
| 55 | CMT1A, HNPP, PMP22
|
| Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy.
|
| Ohnishi A, et al.
|
| Am J Med Genet 59 : 51-58. 1995
|
| 56 | PMP22, HNPP
|
| DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of De novo mutations.
|
| Gonnaud PM, et al.
|
| Acta Neurol Scand 92 : 313-318. 1995
|
| 57 | CMT1A, HNPP, PMP22
|
| Analysis of the CMT1A-REP repeat : mapping crossover breakpoints in CMT1A and HNPP.
|
| Kiyosawa H, et al.
|
| Hum Mol Genet 4 : 2327-2334. 1995
|
| 58 | PMP22
|
| Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family.
|
| Taylor V, et al.
|
| J Biol Chem 270 : 28824-28833. 1995
|
| 59 | HNPP, PMP22
|
| Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies.
|
| Umehara F, et al.
|
| J Neurol Sci 133 : 173-176. 1995
|
| 60 | HNPP, PMP22
|
| A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
|
| Lorenzetti D, et al.
|
| Am J Hum Genet 56 : 91-98. 1995
|
| 61 | HNPP, PMP22
|
| Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).
|
| Le Guern E, et al.
|
| Cytogenet Cell Genet 65 : 261-264. 1994
|
| 62 | PMP22, CMT1A
|
| Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.
|
| Nelis E, et al.
|
| Hum Mol Genet 3 : 515-516. 1994
|
| 63 | PMP22, HNPP
|
| A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
|
| Nicholson GA, et al.
|
| Nat Genet 6 : 263-266. 1994
|
| 64 | HNPP, PMP22, CMT1A
|
| Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
|
| Verhalle D, et al.
|
| Ann Neurol 35 : 704-708. 1994
|
| 65 | PMP22, HNPP
|
| Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
|
| Mariman ECM, et al.
|
| Ann Neurol 36 : 650-655. 1994
|
| 66 | CMT1A, PMP22
|
| Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
|
| Roa BB, et al.
|
| Nat Genet 5 : 269-273. 1993
|
| 67 | CMT1A, PMP22
|
| Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
|
| Roa BB, et al.
|
| N Engl J Med 329 : 96-101. 1993
|
| 68 | HNPP, PMP22, CMT1A
|
| DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
|
| Chance PF, et al.
|
| Cell 72 : 143-151. 1993
|
| 69 | PMP22
|
| Isolation and mapping to 17p12-13 of the human homologous of the murine growth arrest specific Gas-3 gene.
|
| Martinotti A, et al.
|
| Hum Mol Genet 1 : 331-334. 1992
|
| 70 | CMT1A, PMP22
|
| The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
|
| Timmerman V, et al.
|
| Nat Genet 1 : 171-175. 1992
|
| 71 | CMT1A, PMP22
|
| Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
|
| Matsunami N, et al.
|
| Nat Genet 1 : 176-179. 1992
|
| 72 | PMP22
|
| Structural and functional characterization of mammalian PMP-22 genes involved in inherited peripheral neuropathies.
|
| Suter U, et al.
|
| Am J Hum Genet 51 : A136. 1992
|
| 73 | PMP22
|
| Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13).
|
| Snipes GJ, et al.
|
| J Cell Biol 117 : 225-238. 1992
|
| 74 | CMT1A, PMP22
|
| A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.
|
| Nieuwenhuijsen BW, et al.
|
| Hum Mol Genet 1 : 605-612. 1992
|
| 75 | CMT1A, PMP22
|
| Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
|
| Valentijn LJ, et al.
|
| Nat Genet 2 : 288-291. 1992
|