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Volumn 46, Issue 3, 1999, Pages 313-318

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; FEMALE; GENE MUTATION; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYPOPIGMENTATION; MYELIN DEFICIENCY; MYELINATION; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; SCHOOL CHILD; WAARDENBURG SYNDROME;

EID: 0032833425     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7     Document Type: Article
Times cited : (170)

References (37)
  • 1
    • 0031195978 scopus 로고    scopus 로고
    • Signals that initiate myelination in the developing mammalian nervous system
    • Colello RJ, Pott U. Signals that initiate myelination in the developing mammalian nervous system. Mol Neurobiol 1997;15: 83-100
    • (1997) Mol Neurobiol , vol.15 , pp. 83-100
    • Colello, R.J.1    Pott, U.2
  • 2
    • 0031436638 scopus 로고    scopus 로고
    • Redundancy of class III POU proteins in the oligodendrocyte lineage
    • Schreiber J, Enderich J, Sock E, et al. Redundancy of class III POU proteins in the oligodendrocyte lineage. J Biol Chem 1997;272:32286-32293
    • (1997) J Biol Chem , vol.272 , pp. 32286-32293
    • Schreiber, J.1    Enderich, J.2    Sock, E.3
  • 3
    • 0032568923 scopus 로고    scopus 로고
    • Cooperative function of POU proteins and SOX proteins in glial cells
    • Kuhlbrodt K, Herbarth B, Sock E, et al. Cooperative function of POU proteins and SOX proteins in glial cells. J Biol Chem 1998;273:16050-16057
    • (1998) J Biol Chem , vol.273 , pp. 16050-16057
    • Kuhlbrodt, K.1    Herbarth, B.2    Sock, E.3
  • 4
    • 0031973873 scopus 로고    scopus 로고
    • Sox10, a novel transcriptional modulator in glial cells
    • Kuhlbrodt K, Herbarth B, Sock E, et al. Sox10, a novel transcriptional modulator in glial cells. J Neurosci 1998;18: 237-250
    • (1998) J Neurosci , vol.18 , pp. 237-250
    • Kuhlbrodt, K.1    Herbarth, B.2    Sock, E.3
  • 5
    • 0031663679 scopus 로고    scopus 로고
    • Expression of the SOX10 gene during human development
    • Bondurand N, Kobetz A, Pingault V, et al. Expression of the SOX10 gene during human development. FEBS Lett 1998;432: 168-172
    • (1998) FEBS Lett , vol.432 , pp. 168-172
    • Bondurand, N.1    Kobetz, A.2    Pingault, V.3
  • 6
    • 0032574721 scopus 로고    scopus 로고
    • Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
    • Herbarth B, Pingault V, Bondurand N, et al. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. Proc Natl Acad Sci USA 1998;95:5161-5165
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 5161-5165
    • Herbarth, B.1    Pingault, V.2    Bondurand, N.3
  • 7
    • 0031984825 scopus 로고    scopus 로고
    • Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
    • Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 1998;18:60-64
    • (1998) Nat Genet , vol.18 , pp. 60-64
    • Southard-Smith, E.M.1    Kos, L.2    Pavan, W.J.3
  • 8
    • 17344366171 scopus 로고    scopus 로고
    • SOX10 mutations in patients with Waardenburg-Hirschsprung disease
    • Pingault V, Bondurand N, Kuhlbrodt K, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 1998;18:171-173
    • (1998) Nat Genet , vol.18 , pp. 171-173
    • Pingault, V.1    Bondurand, N.2    Kuhlbrodt, K.3
  • 9
    • 0021747818 scopus 로고
    • Association of megacolon with a new dominant spotting gene (Dom) in the mouse
    • Lane PW, Liu HM. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered 1984;75: 435-439
    • (1984) J Hered , vol.75 , pp. 435-439
    • Lane, P.W.1    Liu, H.M.2
  • 11
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
    • Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384
    • (1998) Nat Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 12
    • 0033015744 scopus 로고    scopus 로고
    • Novel missense mutation in the early growth response 2 gene associated with a Dejerine-Sottas syndrome phenotype
    • Timmerman V, De Jonghe P, Ceuterick C, et al. Novel missense mutation in the early growth response 2 gene associated with a Dejerine-Sottas syndrome phenotype. Neurology 1999; 52:1827-1832
    • (1999) Neurology , vol.52 , pp. 1827-1832
    • Timmerman, V.1    De Jonghe, P.2    Ceuterick, C.3
  • 13
    • 0028794116 scopus 로고
    • Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males
    • Osaka H, Kawanishi C, Inoue K, et al. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 1995;215:835-841
    • (1995) Biochem Biophys Res Commun , vol.215 , pp. 835-841
    • Osaka, H.1    Kawanishi, C.2    Inoue, K.3
  • 14
    • 0030048089 scopus 로고    scopus 로고
    • Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
    • Roa BB, Warner LE, Garcia CA, et al. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat 1996;7:36-45
    • (1996) Hum Mutat , vol.7 , pp. 36-45
    • Roa, B.B.1    Warner, L.E.2    Garcia, C.A.3
  • 15
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3
  • 16
    • 0027772413 scopus 로고
    • Connexin mutations in X-linked Charcot-Marie-Tooth disease
    • Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262: 2039-2042
    • (1993) Science , vol.262 , pp. 2039-2042
    • Bergoffen, J.1    Scherer, S.S.2    Wang, S.3
  • 17
    • 0032957881 scopus 로고    scopus 로고
    • Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
    • Inoue K, Osaka H, Imaizumi K, et al. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 1999; 45:624-632
    • (1999) Ann Neurol , vol.45 , pp. 624-632
    • Inoue, K.1    Osaka, H.2    Imaizumi, K.3
  • 18
    • 0031004203 scopus 로고    scopus 로고
    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
    • Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997;69:325-331
    • (1997) Am J Med Genet , vol.69 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3    Lupski, J.R.4
  • 19
    • 0028118434 scopus 로고
    • Protein family classification based on searching a database of blocks
    • Henikoff S, Henikoff JG. Protein family classification based on searching a database of blocks. Genomics 1994;19:97-107
    • (1994) Genomics , vol.19 , pp. 97-107
    • Henikoff, S.1    Henikoff, J.G.2
  • 20
    • 0031892597 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease: Lessons in genetic mechanisms
    • Lupski JR. Charcot-Marie-Tooth disease: lessons in genetic mechanisms. Mol Med 1998:4:3-11
    • (1998) Mol Med , vol.4 , pp. 3-11
    • Lupski, J.R.1
  • 21
    • 0032925852 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity
    • Osaka H, Kawanishi C, Inoue K, et al. Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity. Ann Neurol 1999;45:59-64
    • (1999) Ann Neurol , vol.45 , pp. 59-64
    • Osaka, H.1    Kawanishi, C.2    Inoue, K.3
  • 22
    • 0025670087 scopus 로고
    • Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease
    • Caro PA, Marks HG. Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease. Magn Reson Imaging 1990;8:791-796
    • (1990) Magn Reson Imaging , vol.8 , pp. 791-796
    • Caro, P.A.1    Marks, H.G.2
  • 23
    • 0032483447 scopus 로고    scopus 로고
    • Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients
    • Kuhlbrodt K, Schmidt C, Sock E, et al. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem 1998;273:23033-23038
    • (1998) J Biol Chem , vol.273 , pp. 23033-23038
    • Kuhlbrodt, K.1    Schmidt, C.2    Sock, E.3
  • 24
    • 0026006382 scopus 로고
    • Transcriptional repression mediated by the WT1 Wilms tumor gene product
    • Madden SL, Cook DM, Morris JF, et al. Transcriptional repression mediated by the WT1 Wilms tumor gene product. Science 1991;253:1550-1553
    • (1991) Science , vol.253 , pp. 1550-1553
    • Madden, S.L.1    Cook, D.M.2    Morris, J.F.3
  • 25
    • 0032520907 scopus 로고    scopus 로고
    • Neurological disturbances, premature lethality, and central myelination deficiency in transgenic mice overexpressing the homeo domain transcription factor Oct-6
    • Jensen NA, Pedersen KM, Celis JE, West MJ. Neurological disturbances, premature lethality, and central myelination deficiency in transgenic mice overexpressing the homeo domain transcription factor Oct-6. J Clin Invest 1998;101:1292-1299
    • (1998) J Clin Invest , vol.101 , pp. 1292-1299
    • Jensen, N.A.1    Pedersen, K.M.2    Celis, J.E.3    West, M.J.4
  • 26
    • 0029795302 scopus 로고    scopus 로고
    • The POU factor Oct-6 and Schwann cell differentiation
    • Jaegle M, Mandemakers W, Broos L, et al. The POU factor Oct-6 and Schwann cell differentiation. Science 1996;273: 507-510
    • (1996) Science , vol.273 , pp. 507-510
    • Jaegle, M.1    Mandemakers, W.2    Broos, L.3
  • 27
    • 0028882260 scopus 로고
    • Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal
    • Kwok C, Weller PA, Guioli S, et al. Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal. Am J Hum Genet 1995;57:1028-1036
    • (1995) Am J Hum Genet , vol.57 , pp. 1028-1036
    • Kwok, C.1    Weller, P.A.2    Guioli, S.3
  • 28
    • 0027984497 scopus 로고
    • Krox-20 controls myelination in the peripheral nervous system
    • Topilko P, Schneider-Maunoury S, Levi G, et al. Krox-20 controls myelination in the peripheral nervous system. Nature 1994;371:796-799
    • (1994) Nature , vol.371 , pp. 796-799
    • Topilko, P.1    Schneider-Maunoury, S.2    Levi, G.3
  • 29
    • 0029142724 scopus 로고
    • Pax3: A paired domain gene as a regulator in PNS myelination
    • Kioussi C, Gross MK, Gruss P. Pax3: a paired domain gene as a regulator in PNS myelination. Neuron 1995;15:553-562
    • (1995) Neuron , vol.15 , pp. 553-562
    • Kioussi, C.1    Gross, M.K.2    Gruss, P.3
  • 30
    • 0027937178 scopus 로고
    • Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes
    • Farrer LA, Arnos KS, Asher JH Jr, et al. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 1994;55:728-737
    • (1994) Am J Hum Genet , vol.55 , pp. 728-737
    • Farrer, L.A.1    Arnos, K.S.2    Asher J.H., Jr.3
  • 31
    • 0027518348 scopus 로고
    • Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
    • Tassabehji M, Read AP, Newton VE, et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet 1993;3:26-30
    • (1993) Nat Genet , vol.3 , pp. 26-30
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3
  • 32
    • 0009675716 scopus 로고    scopus 로고
    • A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
    • Hofstra RMW, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nat Genet 1996;12:445-447
    • (1996) Nat Genet , vol.12 , pp. 445-447
    • Hofstra, R.M.W.1    Osinga, J.2    Tan-Sindhunata, G.3
  • 33
    • 0006457459 scopus 로고    scopus 로고
    • Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
    • Edery P, Attié T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet 1996;12:442-444
    • (1996) Nat Genet , vol.12 , pp. 442-444
    • Edery, P.1    Attié, T.2    Amiel, J.3
  • 34
    • 0027972513 scopus 로고
    • Mutations of the RET proto-oncogene in Hirschsprung's disease
    • Edery P, Lyonnet S, Mulligan LM, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367: 378-380
    • (1994) Nature , vol.367 , pp. 378-380
    • Edery, P.1    Lyonnet, S.2    Mulligan, L.M.3
  • 35
    • 0028120882 scopus 로고
    • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
    • Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:377-378
    • (1994) Nature , vol.367 , pp. 377-378
    • Romeo, G.1    Ronchetto, P.2    Luo, Y.3
  • 36
    • 0028618372 scopus 로고
    • A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
    • Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-1266
    • (1994) Cell , vol.79 , pp. 1257-1266
    • Puffenberger, E.G.1    Hosoda, K.2    Washington, S.S.3
  • 37
    • 0031905954 scopus 로고    scopus 로고
    • Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
    • Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat Genet 1998;18:283-286
    • (1998) Nat Genet , vol.18 , pp. 283-286
    • Watanabe, A.1    Takeda, K.2    Ploplis, B.3    Tachibana, M.4


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