메뉴 건너뛰기




Volumn 67, Issue 1, 2000, Pages 14-22

Additional copies of the proteolipid protein gene causing Pelizaeus- Merzbacher disease arise by separate integration in to the X chromosome

(13)  Hodes, M E a   Woodward, Karen b   Spinner, Nancy B c   Emanuel, Beverly S c   Enrico Simon, Agnes c,f   Kamholz, John c,g   Stambolian, Dwight c   Zackai, Elaine H c   Pratt, Victoria M a,h   Thomas, I T d,i   Crandall, Kerry e,j   Dlouhy, Stephen R a   Malcolm, Sue b  


Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

EID: 0033911092     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302965     Document Type: Article
Times cited : (41)

References (32)
  • 1
    • 0026734046 scopus 로고
    • Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: Evidence for gene dosage as a mechanism in CMT1A
    • Chance PF, Bird TD, Matsunami N, Lensch MW, Brothman AR, Feldman GM (1992) Trisomy 17p associated with Charcot-Marie-Tooth neuropathy type 1A phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology 42:2295-2299
    • (1992) Neurology , vol.42 , pp. 2295-2299
    • Chance, P.F.1    Bird, T.D.2    Matsunami, N.3    Lensch, M.W.4    Brothman, A.R.5    Feldman, G.M.6
  • 3
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
    • Ellis D, Malcolm S (1994) Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 6:333-334
    • (1994) Nat Genet , vol.6 , pp. 333-334
    • Ellis, D.1    Malcolm, S.2
  • 4
    • 0029058673 scopus 로고
    • From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins
    • Harding AE (1995) From the syndrome of Charcot, Marie and Tooth to disorders of peripheral myelin proteins. Brain 118: 809-818
    • (1995) Brain , vol.118 , pp. 809-818
    • Harding, A.E.1
  • 5
    • 0028903559 scopus 로고
    • A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene
    • Harding B, Ellis D, Malcolm S (1995) A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene. Neuropathol Appl Neurobiol 21:111-115
    • (1995) Neuropathol Appl Neurobiol , vol.21 , pp. 111-115
    • Harding, B.1    Ellis, D.2    Malcolm, S.3
  • 6
    • 25944432835 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease
    • Gilman S, Goldstein GW, Waxman SG (eds). Arbor Publishing, La Jolla, CA
    • Hodes ME (1998) Pelizaeus-Merzbacher disease. In: Gilman S, Goldstein GW, Waxman SG (eds) Neurobase, 4th ed. Arbor Publishing, La Jolla, CA
    • (1998) Neurobase, 4th Ed.
    • Hodes, M.E.1
  • 7
    • 0027759985 scopus 로고
    • The genetics of Pelizaeus-Merzbacher disease
    • Hodes ME, Pratt VM, Dlouhy SR (1993) The genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 15:383-394
    • (1993) Dev Neurosci , vol.15 , pp. 383-394
    • Hodes, M.E.1    Pratt, V.M.2    Dlouhy, S.R.3
  • 8
    • 0024330420 scopus 로고
    • Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
    • Hudson LD, Puckett C, Berndt J, Chan J, Gencic S (1989) Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 8128-8131
    • Hudson, L.D.1    Puckett, C.2    Berndt, J.3    Chan, J.4    Gencic, S.5
  • 9
    • 0032957881 scopus 로고    scopus 로고
    • Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
    • Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, et al (1999) Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 45: 624-632
    • (1999) Ann Neurol , vol.45 , pp. 624-632
    • Inoue, K.1    Osaka, H.2    Imaizumi, K.3    Nezu, A.4    Takanashi, J.5    Arii, J.6    Murayama, K.7
  • 10
    • 0029980998 scopus 로고    scopus 로고
    • A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
    • Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, et al (1996) A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39
    • (1996) Am J Hum Genet , vol.59 , pp. 32-39
    • Inoue, K.1    Osaka, H.2    Sugiyama, N.3    Kawanishi, C.4    Onishi, H.5    Nezu, A.6    Kimura, K.7
  • 12
    • 0028810444 scopus 로고
    • Analysis of the CMT1A-REP repeat: Mapping crossover breakpoints in CMT1A and HNPP
    • Kiyosawa H, Lensch MW, Chance PF (1995) Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Hum Mol Genet 4:2327-2334
    • (1995) Hum Mol Genet , vol.4 , pp. 2327-2334
    • Kiyosawa, H.1    Lensch, M.W.2    Chance, P.F.3
  • 13
    • 0031663782 scopus 로고    scopus 로고
    • Position effect in human genetic disease
    • Kleinjan DJ, van Heyningen V (1998) Position effect in human genetic disease. Hum Mol Genet 7:1611-1618
    • (1998) Hum Mol Genet , vol.7 , pp. 1611-1618
    • Kleinjan, D.J.1    Van Heyningen, V.2
  • 14
    • 6844239521 scopus 로고    scopus 로고
    • Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination
    • Lopes J, Ravise N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Levy N, et al (1998) Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum Mol Genet 7:141-148
    • (1998) Hum Mol Genet , vol.7 , pp. 141-148
    • Lopes, J.1    Ravise, N.2    Vandenberghe, A.3    Palau, F.4    Ionasescu, V.5    Mayer, M.6    Levy, N.7
  • 17
    • 0002768920 scopus 로고    scopus 로고
    • X-linked developmental defects of myelination: From mouse mutants to human genetic diseases
    • Nave KA, Boespflug-Tanguy O (1996) X-linked developmental defects of myelination: from mouse mutants to human genetic diseases. Neuroscientist 2:33-43
    • (1996) Neuroscientist , vol.2 , pp. 33-43
    • Nave, K.A.1    Boespflug-Tanguy, O.2
  • 20
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 22
    • 0030064551 scopus 로고    scopus 로고
    • Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy
    • Pellegrino JE, Pellegrino L, Spinner NB, Sladky J, Chance PF, Zackai EH (1996) Developmental profile in a patient with monosomy 10q and dup(17p) associated with a peripheral neuropathy. Am J Med Genet 61:377-381
    • (1996) Am J Med Genet , vol.61 , pp. 377-381
    • Pellegrino, J.E.1    Pellegrino, L.2    Spinner, N.B.3    Sladky, J.4    Chance, P.F.5    Zackai, E.H.6
  • 23
    • 0026564694 scopus 로고
    • Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
    • HMSN Collaborative Research Group
    • Raeymaekers P, Timmerman V, Nelis E, Van Hul W, De Jonghe P, Martin JJ, Van Broeckhoven C (1992) Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. J Med Genet 29:5-11
    • (1992) J Med Genet , vol.29 , pp. 5-11
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3    Van Hul, W.4    De Jonghe, P.5    Martin, J.J.6    Van Broeckhoven, C.7
  • 24
    • 0026348463 scopus 로고
    • Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease
    • Raskind WH, Williams CA, Hudson LD, Bird TD (1991) Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360
    • (1991) Am J Hum Genet , vol.49 , pp. 1355-1360
    • Raskind, W.H.1    Williams, C.A.2    Hudson, L.D.3    Bird, T.D.4
  • 25
    • 0031972093 scopus 로고    scopus 로고
    • Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients
    • Reiter LT, Hastings PJ, Nelis E, De Jonghe P, Van Broeckhoven C, Lupski JR (1998) Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Am J Hum Genet 62:1023-1033
    • (1998) Am J Hum Genet , vol.62 , pp. 1023-1033
    • Reiter, L.T.1    Hastings, P.J.2    Nelis, E.3    De Jonghe, P.4    Van Broeckhoven, C.5    Lupski, J.R.6
  • 27
    • 0031801082 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
    • Sistermans EA, de Coo RFM, de Wijs IJ, van Oost BA (1998) Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50:1749-1754
    • (1998) Neurology , vol.50 , pp. 1749-1754
    • Sistermans, E.A.1    De Coo, R.F.M.2    De Wijs, I.J.3    Van Oost, B.A.4
  • 30
  • 31
    • 0022409105 scopus 로고
    • Assignment of the gene for myelin proteolipid protein to the X chromosome: Implications for X-linked myelin disorders
    • Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940-942
    • (1985) Science , vol.230 , pp. 940-942
    • Willard, H.F.1    Riordan, J.R.2
  • 32
    • 0032231957 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease: Identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH
    • Woodward K, Kendall E, Vetrie D, Malcolm S (1998) Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet 63:207-217
    • (1998) Am J Hum Genet , vol.63 , pp. 207-217
    • Woodward, K.1    Kendall, E.2    Vetrie, D.3    Malcolm, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.