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Volumn 36, Issue 3, 1999, Pages 187-191

Deletion mapping and X inactivation analysis of a non-specific mental retardation gene at Xp21.3-Xp22.11

Author keywords

Chromosomal localisation; MRX gene; X inactivation

Indexed keywords

MICROSATELLITE DNA;

EID: 0032984119     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (8)

References (31)
  • 2
    • 0030580974 scopus 로고    scopus 로고
    • How many X-linked genes for non-specific mental retardation (MRX) are there?
    • Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 1996;64:158-62.
    • (1996) Am J Med Genet , vol.64 , pp. 158-162
    • Gedeon, A.K.1    Donnelly, A.J.2    Mulley, J.C.3    Kerr, B.4    Turner, G.5
  • 3
    • 0030137717 scopus 로고    scopus 로고
    • Identification of FMR2: A gene associated with FRAXE mental retardation
    • Gecz J, Gedeon AK, Sutherland GR, Mulley JC. Identification of FMR2: a gene associated with FRAXE mental retardation. Nat Genet 1996,13:105-8.
    • (1996) Nat Genet , vol.13 , pp. 105-108
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.3    Mulley, J.C.4
  • 4
    • 0032580161 scopus 로고
    • Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation
    • Billuart P, Bienvenu T, Ronce N, et al. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1988;392:923-6.
    • (1988) Nature , vol.392 , pp. 923-926
    • Billuart, P.1    Bienvenu, T.2    Ronce, N.3
  • 5
    • 17344369362 scopus 로고
    • Mutations in GDI1 are responsible for X-linked non-specific mental retardation
    • D'Adamo P, Menegon A, Nigrp CL, et al. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nat Genet 1988;19:134-9.
    • (1988) Nat Genet , vol.19 , pp. 134-139
    • D'Adamo, P.1    Menegon, A.2    Nigrp, C.L.3
  • 6
    • 0029792936 scopus 로고    scopus 로고
    • Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: Implication for the MRX locus
    • Muroya K, Ogata T, Matsuo N, et al. Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. Am J Med Genet 1996;64:583-7.
    • (1996) Am J Med Genet , vol.64 , pp. 583-587
    • Muroya, K.1    Ogata, T.2    Matsuo, N.3
  • 7
    • 0028558750 scopus 로고
    • An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
    • Zahana E, Muscatelli F, Bardoni B, et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994;372:535-641.
    • (1994) Nature , vol.372 , pp. 535-641
    • Zahana, E.1    Muscatelli, F.2    Bardoni, B.3
  • 8
    • 0028598360 scopus 로고
    • Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
    • Muscatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994;372:672-6.
    • (1994) Nature , vol.372 , pp. 672-676
    • Muscatelli, F.1    Strom, T.M.2    Walker, A.P.3
  • 9
    • 0023233197 scopus 로고
    • Failure to induce property in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone
    • Kikuchi K, Kaji M, Momoi T, Mikawa H, Shigematsu Y, Sudo M. Failure to induce property in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. Acta Endocrinol 1987;114:153-60.
    • (1987) Acta Endocrinol , vol.114 , pp. 153-160
    • Kikuchi, K.1    Kaji, M.2    Momoi, T.3    Mikawa, H.4    Shigematsu, Y.5    Sudo, M.6
  • 10
    • 0028892091 scopus 로고
    • An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
    • Ferrero GB, Franco B, Roth EJ, et al. An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 1995;4:1821-7.
    • (1995) Hum Mol Genet , vol.4 , pp. 1821-1827
    • Ferrero, G.B.1    Franco, B.2    Roth, E.J.3
  • 11
    • 0030011395 scopus 로고    scopus 로고
    • Genomic sequence of the DAX-1 gene: An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
    • Guo W, Burns P, Zhang YH, et al. Genomic sequence of the DAX-1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab 1996;81:2481-6.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 2481-2486
    • Guo, W.1    Burns, P.2    Zhang, Y.H.3
  • 12
    • 0021888338 scopus 로고
    • Localization of DNA sequences in region Xp21 of the human X chromosome: Search for molecular markers close to the Duchenne muscular dystrophy locus
    • de Martinville B, Kunkel LM, Bruns G, et al. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet 1985;37:235-49.
    • (1985) Am J Hum Genet , vol.37 , pp. 235-249
    • De Martinville, B.1    Kunkel, L.M.2    Bruns, G.3
  • 13
    • 0021349331 scopus 로고
    • Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector
    • Lau YF Kan YW. Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector. Proc Natl Acad Sci USA 1984;81:414-18.
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 414-418
    • Lau, Y.F.1    Kan, Y.W.2
  • 14
    • 0026678490 scopus 로고
    • Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
    • Allen RC, Zohbi HY, Moseley AB, Rosenblatt HM, Belmont JW. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992;51:1229-39.
    • (1992) Am J Hum Genet , vol.51 , pp. 1229-1239
    • Allen, R.C.1    Zohbi, H.Y.2    Moseley, A.B.3    Rosenblatt, H.M.4    Belmont, J.W.5
  • 15
    • 0026788532 scopus 로고
    • X inactivation as a mechanism of selection against lethal alleles: Further investigation of incontinentia pigmenti and X linked lymphoproliferative disease
    • Harris A, Collins J, Vetrie D, Cole C, Bobrow M. X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease. J Med Genet 1992;29:608-14.
    • (1992) J Med Genet , vol.29 , pp. 608-614
    • Harris, A.1    Collins, J.2    Vetrie, D.3    Cole, C.4    Bobrow, M.5
  • 16
    • 10244264867 scopus 로고    scopus 로고
    • Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita
    • Nakae J, Tajima T, Kusu da S, et al. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 1996;81:3680-5.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3680-3685
    • Nakae, J.1    Tajima, T.2    Kusu Da, S.3
  • 17
    • 8944244530 scopus 로고    scopus 로고
    • Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
    • Billuart P, Vinet MC, des Portes V, et al. Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation. Hum Mol Genet 1996;5:977-9.
    • (1996) Hum Mol Genet , vol.5 , pp. 977-979
    • Billuart, P.1    Vinet, M.C.2    Des Portes, V.3
  • 18
    • 0026167023 scopus 로고
    • Contiguous deletion syndrome
    • Ballbio A. Contiguous deletion syndrome. Curr Opin Genet Dev 1991;1:25-9.
    • (1991) Curr Opin Genet Dev , vol.1 , pp. 25-29
    • Ballbio, A.1
  • 20
    • 0029931072 scopus 로고    scopus 로고
    • Mutations and phenotype in isolated glycerol kinase deficiency
    • Walker AP, Muscatelli F, Stafford AN, et al. Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet 1996;58:1205-11.
    • (1996) Am J Hum Genet , vol.58 , pp. 1205-1211
    • Walker, A.P.1    Muscatelli, F.2    Stafford, A.N.3
  • 21
    • 0021740877 scopus 로고
    • Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease
    • Francke U. Random X inactivation resulting in mosaic nullisomy of region Xp21.1→p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet 1984;38:298-307.
    • (1984) Cytogenet Cell Genet , vol.38 , pp. 298-307
    • Francke, U.1
  • 22
    • 0026745929 scopus 로고
    • Xp21 contiguous gene syndrome: Deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints
    • McCabe ER, Towbin JA, van den Engh G, Trask BJ. Xp21 contiguous gene syndrome: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet 1992;51:1277-85.
    • (1992) Am J Hum Genet , vol.51 , pp. 1277-1285
    • McCabe, E.R.1    Towbin, J.A.2    Van Den Engh, G.3    Trask, B.J.4
  • 23
    • 0027196748 scopus 로고
    • Mental retardation locus in Xp21 chromosome microdeletion
    • Fries MH, Lebo RV, Schonberg SA, et al. Mental retardation locus in Xp21 chromosome microdeletion. Am J Med Genet 1993;46:363-8.
    • (1993) Am J Med Genet , vol.46 , pp. 363-368
    • Fries, M.H.1    Lebo, R.V.2    Schonberg, S.A.3
  • 24
    • 0026749124 scopus 로고
    • Localization of non-specific X-linked mental retardation genes
    • Kerr B, Gedeon A, Mulley J, Turner G. Localization of non-specific X-linked mental retardation genes. Am J Med Genet 1992;43:392-401.
    • (1992) Am J Med Genet , vol.43 , pp. 392-401
    • Kerr, B.1    Gedeon, A.2    Mulley, J.3    Turner, G.4
  • 25
    • 0027442404 scopus 로고
    • Mapping of a gene for non-specific X linked mental retardation: Evidence for linkage to chromosomal region Xp21.1-Xp22.3
    • Kozak L, Chiurazzi P, Genuardi M, Pomponi MG, Zollino M, Neri G. Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. J Med Genet 1993;30:866-9.
    • (1993) J Med Genet , vol.30 , pp. 866-869
    • Kozak, L.1    Chiurazzi, P.2    Genuardi, M.3    Pomponi, M.G.4    Zollino, M.5    Neri, G.6
  • 27
    • 0030007791 scopus 로고    scopus 로고
    • Study of X-linked mental retardation (XLMR): Summary of 61 families in the Miami/Greenwood study
    • Lubs HA, Schwartz CE, Stevenson RE, Arena JF. Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood study. Am J Med Genet 1996;64:169-75.
    • (1996) Am J Med Genet , vol.64 , pp. 169-175
    • Lubs, H.A.1    Schwartz, C.E.2    Stevenson, R.E.3    Arena, J.F.4
  • 29
    • 0343253990 scopus 로고    scopus 로고
    • A form of non-specific mental retardation is probably caused by a microdeletion in a Belgian family
    • Raemaekers P, Lin J, Gu XX, et al. A form of non-specific mental retardation is probably caused by a microdeletion in a Belgian family. Am J Med Genet 1996;64:16A.
    • (1996) Am J Med Genet , vol.64
    • Raemaekers, P.1    Lin, J.2    Gu, X.X.3
  • 30
    • 0029888522 scopus 로고    scopus 로고
    • Linkage analysis in three families with nonspecific X-linked mental retardation
    • Claes S, Gu XX, Legius B, et al. Linkage analysis in three families with nonspecific X-linked mental retardation. Am J Med Genet 1996;64:137-46.
    • (1996) Am J Med Genet , vol.64 , pp. 137-146
    • Claes, S.1    Gu, X.X.2    Legius, B.3
  • 31
    • 0029891633 scopus 로고    scopus 로고
    • Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38)
    • Schutz CK, Ives EJ, Chalifoux M, et al. Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). Am J Med Genet 1996;64:89-96.
    • (1996) Am J Med Genet , vol.64 , pp. 89-96
    • Schutz, C.K.1    Ives, E.J.2    Chalifoux, M.3


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