메뉴 건너뛰기




Volumn 62, Issue 6, 2002, Pages 423-432

X-linked mental retardation: Vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

Author keywords

Allelism; MRX; MRXS; X linked mental retardation

Indexed keywords

CELL SURFACE PROTEIN; FRAGILE X MENTAL RETARDATION PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE DISSOCIATION INHIBITOR; LONG CHAIN FATTY ACID COENZYME A LIGASE; PHOSPHOTRANSFERASE; PROTEIN KINASE; PROTEIN P21; RECEPTOR PROTEIN; RHO GUANINE NUCLEOTIDE BINDING PROTEIN;

EID: 0036948994     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620601.x     Document Type: Short Survey
Times cited : (66)

References (100)
  • 1
    • 0035464960 scopus 로고    scopus 로고
    • Monogenic causes of X-linked mental retardation
    • Chelly J, Mandel JL. Monogenic causes of X-linked mental retardation. Nat Rev Genet 2001: 2: 669-680.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 669-680
    • Chelly, J.1    Mandel, J.L.2
  • 2
    • 0031917443 scopus 로고    scopus 로고
    • Mental retardation in Norway: Prevalence and sub-classification in a cohort of 30,037 children born between 1980 and 1985
    • Stromme P, Valvatne K. Mental retardation in Norway: prevalence and sub-classification in a cohort of 30,037 children born between 1980 and 1985. Acta Paediatr 1998: 87: 291-296.
    • (1998) Acta Paediatr. , vol.87 , pp. 291-296
    • Stromme, P.1    Valvatne, K.2
  • 3
    • 8044233695 scopus 로고    scopus 로고
    • The prevalence of mental retardation: A critical review of recent literature
    • Roeleveld N, Zielhuis GA, Gabreels F. The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol 1997: 39: 125-132.
    • (1997) Dev. Med. Child Neurol. , vol.39 , pp. 125-132
    • Roeleveld, N.1    Zielhuis, G.A.2    Gabreels, F.3
  • 4
    • 0034760778 scopus 로고    scopus 로고
    • Clinical etiological survey of a population of 471 mentally retarded patients living in an institution in the Southern part of the Netherlands
    • Van Buggenhout GJ, Trommelen JCM, Brunner HG, Hamel BCJ, Fryns JP. Clinical etiological survey of a population of 471 mentally retarded patients living in an institution in the Southern part of the Netherlands. Community Genet 2001: 4: 109-122.
    • (2001) Community Genet. , vol.4 , pp. 109-122
    • Van Buggenhout, G.J.1    Trommelen, J.C.M.2    Brunner, H.G.3    Hamel, B.C.J.4    Fryns, J.P.5
  • 5
    • 0003016183 scopus 로고
    • Contribution to the psychology and pedagogy of feebleminded children
    • Johnson GE. Contribution to the psychology and pedagogy of feebleminded children. J Psycho Asthenics 1897: 2: 26-32.
    • (1897) J. Psycho. Asthenics , vol.2 , pp. 26-32
    • Johnson, G.E.1
  • 6
    • 0003675279 scopus 로고
    • Feeblemindedness. Its Causes and Consequences
    • New York: MacMillan
    • Godiland HH. Feeblemindedness. Its Causes and Consequences. New York: MacMillan, 1914.
    • (1914)
    • Godiland, H.H.1
  • 7
    • 0003843231 scopus 로고
    • A Clinical and Genetic Study of 1280 Cases of Mental Defect
    • Medical Research Council Special Report Series 229 London: Medical Research Council
    • Penrose LS. A Clinical and Genetic Study of 1280 Cases of Mental Defect. Medical Research Council Special Report Series 229. London: Medical Research Council, 1938.
    • (1938)
    • Penrose, L.S.1
  • 9
    • 0003805056 scopus 로고
    • Mental Retardation: A Family Study
    • Philadelphia: W. B. Saunders
    • Reed EW, Reed SC. Mental Retardation: A Family Study. Philadelphia: W. B. Saunders, 1965.
    • (1965)
    • Reed, E.W.1    Reed, S.C.2
  • 10
    • 0000524625 scopus 로고
    • A pedigree of mental defect showing sex-linkage
    • Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiat 1943: 6: 154-157.
    • (1943) J. Neurol. Psychiat. , vol.6 , pp. 154-157
    • Martin, J.P.1    Bell, J.2
  • 11
    • 0016248119 scopus 로고
    • X-linked mental retardation
    • Turner G, Turner B. X-linked mental retardation. J Med Genet 1974: 11: 109-113.
    • (1974) J. Med. Genet. , vol.11 , pp. 109-113
    • Turner, G.1    Turner, B.2
  • 12
    • 0015336653 scopus 로고
    • Theory of X-linkage of major intellectual traits
    • Lehrke R. Theory of X-linkage of major intellectual traits. Am J Ment Defic 1972: 76: 611-619.
    • (1972) Am. J. Ment. Defic. , vol.76 , pp. 611-619
    • Lehrke, R.1
  • 13
    • 0015968749 scopus 로고
    • X-linked mental retardation and verbal disability
    • Lehrke RG. X-linked mental retardation and verbal disability. Birth Defects Orig Artic Series 1974: 10: 1-100.
    • (1974) Birth Defects Orig. Artic. Series , vol.10 , pp. 1-100
    • Lehrke, R.G.1
  • 14
    • 0017381277 scopus 로고
    • Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium
    • Sutherland GR. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science 1977: 197: 265-266.
    • (1977) Science , vol.197 , pp. 265-266
    • Sutherland, G.R.1
  • 15
    • 0019654133 scopus 로고
    • Fragile X-linked mental retardation: The Martin-Bell syndrome
    • Richards BW, Sylvester PE, Brooker C. Fragile X-linked mental retardation: the Martin-Bell syndrome. J Ment Defic Res 1981: 25 Part 4: 253-256.
    • (1981) J. Ment. Defic. Res. , vol.25 , Issue.PART 4 , pp. 253-256
    • Richards, B.W.1    Sylvester, P.E.2    Brooker, C.3
  • 17
    • 0035697478 scopus 로고    scopus 로고
    • The fragile X gene and its function
    • Oostra BA, Chiurazzi P. The fragile X gene and its function. Clin Genet 2001: 60: 399-408.
    • (2001) Clin. Genet. , vol.60 , pp. 399-408
    • Oostra, B.A.1    Chiurazzi, P.2
  • 19
    • 0001836958 scopus 로고
    • X-linked mental retardation and the fragile X syndrome: A clinical approach
    • Davies KE, ed. Oxford: Oxford University Press
    • Fryns JP. X-linked mental retardation and the fragile X syndrome: a clinical approach. In: Davies KE, ed. The Fragile X Syndrome. Oxford: Oxford University Press, 1989: 1-39.
    • (1989) The Fragile X Syndrome , pp. 1-39
    • Fryns, J.P.1
  • 22
    • 0029786254 scopus 로고    scopus 로고
    • Intelligence and the X chromosome
    • Turner G. Intelligence and the X chromosome. Lancet 1996: 347: 1814-1815.
    • (1996) Lancet , vol.347 , pp. 1814-1815
    • Turner, G.1
  • 23
    • 0029886516 scopus 로고    scopus 로고
    • Finding genes on the X chromosome by which homo may have become sapiens
    • Turner G. Finding genes on the X chromosome by which homo may have become sapiens. Am J Hum Genet 1996: 58: 1109-1110.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 1109-1110
    • Turner, G.1
  • 24
    • 0030137717 scopus 로고    scopus 로고
    • Identification of the gene FMR2, associated with FRAXE mental retardation
    • Gecz J, Gedeon AK, Sutherland GR, Mulley JC. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet 1996: 13: 105-108.
    • (1996) Nat. Genet. , vol.13 , pp. 105-108
    • Gecz, J.1    Gedeon, A.K.2    Sutherland, G.R.3    Mulley, J.C.4
  • 25
    • 0030138905 scopus 로고    scopus 로고
    • Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
    • Gu Y, Shen Y, Gibbs RA, Nelson DL. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet 1996: 13: 109-113.
    • (1996) Nat. Genet. , vol.13 , pp. 109-113
    • Gu, Y.1    Shen, Y.2    Gibbs, R.A.3    Nelson, D.L.4
  • 26
    • 17344369362 scopus 로고    scopus 로고
    • Mutations in GDI1 are responsible for X-linked non-specific mental retardation
    • [see comments] [published erratum appears in Nat Genet 1998 July; 19 (3): 303]
    • D'Adamo P, Menegon A, Lo NC et al. Mutations in GDI1 are responsible for X-linked non-specific mental retardation [see comments] [published erratum appears in Nat Genet 1998 July; 19 (3): 303]. Nat Genet 1998: 19: 134-139.
    • (1998) Nat. Genet. , vol.19 , pp. 134-139
    • D'Adamo, P.1    Menegon, A.2    Lo, N.C.3
  • 27
    • 0032580161 scopus 로고    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 1998: 392: 923-926.
    • (1998) Nature , vol.392 , pp. 923-926
    • Billuart, P.1    Bienvenu, T.2    Ronce, N.3
  • 28
    • 0031710557 scopus 로고    scopus 로고
    • PAK3 mutation in nonsyndromic X-linked mental retardation
    • Allen KM, Gleeson JG, Bagrodia S et al. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 1998: 20: 25-30.
    • (1998) Nat. Genet. , vol.20 , pp. 25-30
    • Allen, K.M.1    Gleeson, J.G.2    Bagrodia, S.3
  • 29
    • 0032910443 scopus 로고    scopus 로고
    • A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation
    • [letter]
    • Merienne K, Jacquot S, Pannetier S et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation [letter]. Nat Genet 1999: 22: 13-14.
    • (1999) Nat. Genet. , vol.22 , pp. 13-14
    • Merienne, K.1    Jacquot, S.2    Pannetier, S.3
  • 30
    • 0032819848 scopus 로고    scopus 로고
    • A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
    • Carrie A, Jun L, Bienvenu T et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 1999: 23: 25-31.
    • (1999) Nat. Genet. , vol.23 , pp. 25-31
    • Carrie, A.1    Jun, L.2    Bienvenu, T.3
  • 31
    • 0033968407 scopus 로고    scopus 로고
    • A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
    • Zemni R, Bienvenu T, Vinet MC et al. A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet 2000: 24: 167-170.
    • (2000) Nat. Genet. , vol.24 , pp. 167-170
    • Zemni, R.1    Bienvenu, T.2    Vinet, M.C.3
  • 32
    • 0033775672 scopus 로고    scopus 로고
    • Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for rho GTPases, in patients with X-linked mental retardation
    • Kutsche K, Yntema H, Brandt A et al. Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for rho GTPases, in patients with X-linked mental retardation. Nat Genet 2000: 26: 247-250.
    • (2000) Nat. Genet. , vol.26 , pp. 247-250
    • Kutsche, K.1    Yntema, H.2    Brandt, A.3
  • 33
    • 0035870846 scopus 로고    scopus 로고
    • MECP2 is highly mutated in X-linked mental retardation
    • Couvert P, Bienvenu T, Aquaviva C, et al. MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet 2001: 10: 941-946.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 941-946
    • Couvert, P.1    Bienvenu, T.2    Aquaviva, C.3
  • 34
    • 18544386723 scopus 로고    scopus 로고
    • FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
    • Meloni I, Muscettola M, Raynaud M et al. FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet 2002: 30: 436-440.
    • (2002) Nat. Genet. , vol.30 , pp. 436-440
    • Meloni, I.1    Muscettola, M.2    Raynaud, M.3
  • 35
    • 0001665187 scopus 로고    scopus 로고
    • Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
    • Stromme P, Mangelsdorf ME, Shaw MA et al. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet 2002: 30: 441-445.
    • (2002) Nat. Genet. , vol.30 , pp. 441-445
    • Stromme, P.1    Mangelsdorf, M.E.2    Shaw, M.A.3
  • 36
    • 0037090887 scopus 로고    scopus 로고
    • ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
    • Bienvenu T, Poirier K, Friocourt G et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002: 11: 981-991.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 981-991
    • Bienvenu, T.1    Poirier, K.2    Friocourt, G.3
  • 38
    • 4243282333 scopus 로고    scopus 로고
    • Genes for cognitive function: Developments on the X
    • Gecz J, Mulley J. Genes for cognitive function: developments on the X. Genome Res 2000: 10: 157-163.
    • (2000) Genome Res. , vol.10 , pp. 157-163
    • Gecz, J.1    Mulley, J.2
  • 41
    • 0027203684 scopus 로고
    • Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
    • Knight SJ, Flannery AV, Hirst MC et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 1993: 74: 127-134.
    • (1993) Cell , vol.74 , pp. 127-134
    • Knight, S.J.1    Flannery, A.V.2    Hirst, M.C.3
  • 42
    • 0027449978 scopus 로고
    • The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE
    • Hirst MC, Barnicoat A, Flynn G et al. The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum Mol Genet 1993: 2: 197-200.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 197-200
    • Hirst, M.C.1    Barnicoat, A.2    Flynn, G.3
  • 43
    • 0031044516 scopus 로고    scopus 로고
    • FMR2 expression in families with FRAXE mental retardation
    • Gecz J, Oostra BA, Hockey A et al. FMR2 expression in families with FRAXE mental retardation. Hum Mol Genet 1997: 6: 435-441.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 435-441
    • Gecz, J.1    Oostra, B.A.2    Hockey, A.3
  • 44
    • 0033028070 scopus 로고    scopus 로고
    • Characterisation and expression of a large, 13.7 kb FMR2 isoform
    • Gecz J, Mulley JC. Characterisation and expression of a large, 13.7 kb FMR2 isoform. Eur J Hum Genet 1999: 7: 157-162.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 157-162
    • Gecz, J.1    Mulley, J.C.2
  • 45
    • 0035047263 scopus 로고    scopus 로고
    • Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator
    • Hillman MA, Gecz J. Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. J Hum Genet 2001: 46: 251-259.
    • (2001) J. Hum. Genet. , vol.46 , pp. 251-259
    • Hillman, M.A.1    Gecz, J.2
  • 47
    • 0036543312 scopus 로고    scopus 로고
    • Rho proteins, mental retardation and the cellular basis of cognition
    • Ramakers GJ. Rho proteins, mental retardation and the cellular basis of cognition. Trends Neurosci 2002: 25: 191-199.
    • (2002) Trends Neurosci. , vol.25 , pp. 191-199
    • Ramakers, G.J.1
  • 49
    • 0035253071 scopus 로고    scopus 로고
    • Rho GTPases in growth cone guidance
    • Dickson BJ. Rho GTPases in growth cone guidance. Curr Opin Neurobiol 2001: 11: 103-110.
    • (2001) Curr. Opin. Neurobiol. , vol.11 , pp. 103-110
    • Dickson, B.J.1
  • 50
    • 0036223437 scopus 로고    scopus 로고
    • The role of Rho GTPases and associated kinases in regulating neurite outgrowth
    • Nikolic M. The role of Rho GTPases and associated kinases in regulating neurite outgrowth. Int J Biochem Cell Biol 2002: 34: 731-745.
    • (2002) Int. J. Biochem. Cell Biol. , vol.34 , pp. 731-745
    • Nikolic, M.1
  • 52
    • 0034648492 scopus 로고    scopus 로고
    • Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation
    • Bienvenu T, des Portes V, McDonell N et al. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet 2000: 93: 294-298.
    • (2000) Am. J. Med. Genet. , vol.93 , pp. 294-298
    • Bienvenu, T.1    des Portes, V.2    McDonell, N.3
  • 53
    • 0037085375 scopus 로고    scopus 로고
    • Regulation of the Cool/Pix proteins: Key binding partners of the Cdc42/ Rac targets, the p21-activated kinases
    • Feng Q, Albeck JG, Cerione RA, Yang W. Regulation of the Cool/Pix proteins: key binding partners of the Cdc42/ Rac targets, the p21-activated kinases. J Biol Chem 2002: 277: 5644-5650.
    • (2002) J. Biol. Chem. , vol.277 , pp. 5644-5650
    • Feng, Q.1    Albeck, J.G.2    Cerione, R.A.3    Yang, W.4
  • 54
    • 0033606802 scopus 로고    scopus 로고
    • Characterization of integrin-tetraspanin adhesion complexes: Role of tetraspanins in integrin signaling
    • Berditchevski F, Odintsova E. Characterization of integrin-tetraspanin adhesion complexes: role of tetraspanins in integrin signaling. J Cell Biol 1999: 146: 477-492.
    • (1999) J. Cell Biol. , vol.146 , pp. 477-492
    • Berditchevski, F.1    Odintsova, E.2
  • 55
    • 0032911020 scopus 로고    scopus 로고
    • Bidirectional signaling between the cytoskeleton and integrins
    • Schoenwaelder SM, Burridge K. Bidirectional signaling between the cytoskeleton and integrins. Curr Opin Cell Biol 1999: 11: 274-286.
    • (1999) Curr. Opin. Cell Biol. , vol.11 , pp. 274-286
    • Schoenwaelder, S.M.1    Burridge, K.2
  • 56
    • 0034049945 scopus 로고    scopus 로고
    • Transmembrane-4-superfamily proteins, CD151 and CD81, associate with alpha 3 beta 1 integrin, and selectively contribute to alpha 3 beta 1-dependent neurite outgrowth
    • Stipp CS, Hemler ME. Transmembrane-4-superfamily proteins, CD151 and CD81, associate with alpha 3 beta 1 integrin, and selectively contribute to alpha 3 beta 1-dependent neurite outgrowth. J Cell Sci 2000: 113: 1871-1882.
    • (2000) J. Cell Sci. , vol.113 , pp. 1871-1882
    • Stipp, C.S.1    Hemler, M.E.2
  • 57
    • 0035816663 scopus 로고    scopus 로고
    • Transmembrane-4 superfamily proteins associate with activated protein kinase C (PKC) and link PKC to specific beta(1) integrins
    • Zhang XA, Bontrager AL, Hemler ME. Transmembrane-4 superfamily proteins associate with activated protein kinase C (PKC) and link PKC to specific beta(1) integrins. J Biol Chem 2001: 276: 25005-25013.
    • (2001) J. Biol. Chem. , vol.276 , pp. 25005-25013
    • Zhang, X.A.1    Bontrager, A.L.2    Hemler, M.E.3
  • 58
    • 0034331438 scopus 로고    scopus 로고
    • Specific interactions among transmembrane 4 superfamily (TM4SF) proteins and phosphoinositide 4-kinase
    • Yauch RL, Hemler ME. Specific interactions among transmembrane 4 superfamily (TM4SF) proteins and phosphoinositide 4-kinase. Biochem J 2000: 351 Part 3: 629-637.
    • (2000) Biochem. J. , vol.351 , Issue.PART 3 , pp. 629-637
    • Yauch, R.L.1    Hemler, M.E.2
  • 59
    • 0034666128 scopus 로고    scopus 로고
    • Integrin-mediated regulation of synaptic morphology, transmission, and plasticity
    • Rohrbough J, Grotewiel MS, Davis RL, Broadie K. Integrin-mediated regulation of synaptic morphology, transmission, and plasticity. J Neurosci 2000: 20: 6868-6878.
    • (2000) J. Neurosci. , vol.20 , pp. 6868-6878
    • Rohrbough, J.1    Grotewiel, M.S.2    Davis, R.L.3    Broadie, K.4
  • 60
    • 0034730618 scopus 로고    scopus 로고
    • Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling
    • Born TL, Smith DE, Garka KE, Renshaw BR, Bertles JS, Sims JE. Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling. J Biol Chem 2000: 275: 29946-29954.
    • (2000) J. Biol. Chem. , vol.275 , pp. 29946-29954
    • Born, T.L.1    Smith, D.E.2    Garka, K.E.3    Renshaw, B.R.4    Bertles, J.S.5    Sims, J.E.6
  • 61
    • 0030897513 scopus 로고    scopus 로고
    • Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signalling
    • Faergeman NJ, Knudsen J. Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signalling. Biochem J 1997: 323: 1-12.
    • (1997) Biochem. J. , vol.323 , pp. 1-12
    • Faergeman, N.J.1    Knudsen, J.2
  • 62
    • 0034912915 scopus 로고    scopus 로고
    • In vivo fatty acid incorporation into brain phosholipids in relation to plasma availability, signal transduction and membrane remodeling
    • Rapoport SI. In vivo fatty acid incorporation into brain phosholipids in relation to plasma availability, signal transduction and membrane remodeling. J Mol Neurosci 2001: 16: 243-261.
    • (2001) J. Mol. Neurosci. , vol.16 , pp. 243-261
    • Rapoport, S.I.1
  • 63
    • 0026625236 scopus 로고
    • Changing fatty acid content of growth cone lipids prior to synaptogenesis
    • Martin RE, Bazan NG. Changing fatty acid content of growth cone lipids prior to synaptogenesis. J Neurochem 1992: 59: 318-325.
    • (1992) J. Neurochem. , vol.59 , pp. 318-325
    • Martin, R.E.1    Bazan, N.G.2
  • 64
    • 0034988945 scopus 로고    scopus 로고
    • Delivery and turnover of plasma-derived essential PUFAs in mammalian brain
    • Rapoport SI, Chang MC, Spector AA. Delivery and turnover of plasma-derived essential PUFAs in mammalian brain. J Lipid Res 2001: 42: 678-685.
    • (2001) J. Lipid Res. , vol.42 , pp. 678-685
    • Rapoport, S.I.1    Chang, M.C.2    Spector, A.A.3
  • 65
    • 0034524964 scopus 로고    scopus 로고
    • Splitting and lumping in the nosology of XLMR
    • Stevenson RE. Splitting and lumping in the nosology of XLMR. Am J Med Genet 2000: 97: 174-182.
    • (2000) Am. J. Med. Genet. , vol.97 , pp. 174-182
    • Stevenson, R.E.1
  • 66
    • 0035145479 scopus 로고    scopus 로고
    • Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
    • Delaunoy J, Abidi F, Zeniou M et al. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Hum Mutat 2001: 17: 103-116.
    • (2001) Hum. Mutat. , vol.17 , pp. 103-116
    • Delaunoy, J.1    Abidi, F.2    Zeniou, M.3
  • 67
    • 0037154144 scopus 로고    scopus 로고
    • A Rett syndrome MECP2 mutation that causes mental retardation in men
    • Dotti MT, Orrico A, De Stefano N et al. A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology 2002: 58: 226-230.
    • (2002) Neurology , vol.58 , pp. 226-230
    • Dotti, M.T.1    Orrico, A.2    De Stefano, N.3
  • 68
    • 0036097106 scopus 로고    scopus 로고
    • Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome
    • Zeniou M, Pannetier S, Fryns JP, Hanauer A. Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome. Am J Hum Genet 2002: 70: 1421-1433.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1421-1433
    • Zeniou, M.1    Pannetier, S.2    Fryns, J.P.3    Hanauer, A.4
  • 69
    • 0035936640 scopus 로고    scopus 로고
    • Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation
    • Harum KH, Alemi L, Johnston MV. Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation. Neurology 2001: 56: 207-214.
    • (2001) Neurology , vol.56 , pp. 207-214
    • Harum, K.H.1    Alemi, L.2    Johnston, M.V.3
  • 70
    • 0242612949 scopus 로고    scopus 로고
    • A phosphoserine-regulated docking site in the protein kinase RSK2 that recruits and activates PDK1
    • Frodin M, Jensen CJ, Merienne K, Gammeltoft S. A phosphoserine-regulated docking site in the protein kinase RSK2 that recruits and activates PDK1. EMBO J 2000: 19: 2924-2934.
    • (2000) EMBO J. , vol.19 , pp. 2924-2934
    • Frodin, M.1    Jensen, C.J.2    Merienne, K.3    Gammeltoft, S.4
  • 71
    • 0035196477 scopus 로고    scopus 로고
    • Rett syndrome: Clinical correlates of the newly discovered gene
    • Percy AK. Rett syndrome: clinical correlates of the newly discovered gene. Brain Dev 2001: 23 (Suppl. 1): S202-S205.
    • (2001) Brain Dev. , vol.23 , Issue.SUPPL. 1
    • Percy, A.K.1
  • 72
    • 0034701999 scopus 로고    scopus 로고
    • MECP2 mutations account for most cases of typical forms of Rett syndrome
    • Bienvenu T, Carrie A, de Roux N et al. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 2000: 9: 1377-1384.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1377-1384
    • Bienvenu, T.1    Carrie, A.2    de Roux, N.3
  • 73
    • 85047697344 scopus 로고    scopus 로고
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
    • Topcu M, Akyerli C, Sayi A et al. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 2002: 10: 77-81.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 77-81
    • Topcu, M.1    Akyerli, C.2    Sayi, A.3
  • 74
    • 0036120278 scopus 로고    scopus 로고
    • Rett syndrome: Clinical manifestations in males with MECP2 mutations
    • Zeev BB, Yaron Y, Schanen NC et al. Rett syndrome: clinical manifestations in males with MECP2 mutations. J Child Neurol 2002: 17: 20-24.
    • (2002) J. Child Neurol. , vol.17 , pp. 20-24
    • Zeev, B.B.1    Yaron, Y.2    Schanen, N.C.3
  • 75
    • 0033804436 scopus 로고    scopus 로고
    • A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
    • Meloni I, Bruttini M, Longo I et al. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males. Am J Hum Genet 2000: 67: 982-985.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 982-985
    • Meloni, I.1    Bruttini, M.2    Longo, I.3
  • 76
    • 0036207456 scopus 로고    scopus 로고
    • A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome
    • Klauck SM, Lindsay S, Beyer KS, Splitt M, Burn J, Poustka A. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Am J Hum Genet 2002: 70: 1034-1037.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1034-1037
    • Klauck, S.M.1    Lindsay, S.2    Beyer, K.S.3    Splitt, M.4    Burn, J.5    Poustka, A.6
  • 77
    • 18244382110 scopus 로고    scopus 로고
    • In-frame deletion in MECP2 causes mild nonspecific mental retardation
    • Yntema HG, Oudakker AR, Kleefstra T et al. In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 2002: 107: 81-83.
    • (2002) Am. J. Med. Genet. , vol.107 , pp. 81-83
    • Yntema, H.G.1    Oudakker, A.R.2    Kleefstra, T.3
  • 78
    • 0035991641 scopus 로고    scopus 로고
    • Low frequency of MECP2 mutations in mentally retarded males
    • Yntema HG, Kleefstra T, Oudakker AR et al. Low frequency of MECP2 mutations in mentally retarded males. Eur J Hum Genet 2002: 10: 487-490.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 487-490
    • Yntema, H.G.1    Kleefstra, T.2    Oudakker, A.R.3
  • 79
    • 0034968819 scopus 로고    scopus 로고
    • Methylated cytosine and the brain: A new base for neuroscience
    • Tucker KL. Methylated cytosine and the brain: a new base for neuroscience. Neuron 2001: 30: 649-652.
    • (2001) Neuron , vol.30 , pp. 649-652
    • Tucker, K.L.1
  • 80
    • 0035094767 scopus 로고    scopus 로고
    • A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
    • Guy J, Hendrich B, Holmes M, Martin JE, Bird A. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 2001: 27: 322-326.
    • (2001) Nat. Genet. , vol.27 , pp. 322-326
    • Guy, J.1    Hendrich, B.2    Holmes, M.3    Martin, J.E.4    Bird, A.5
  • 81
    • 0035093830 scopus 로고    scopus 로고
    • Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
    • Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 2001: 27: 327-331.
    • (2001) Nat. Genet. , vol.27 , pp. 327-331
    • Chen, R.Z.1    Akbarian, S.2    Tudor, M.3    Jaenisch, R.4
  • 83
    • 18444414277 scopus 로고    scopus 로고
    • Expanding phenotype of XNP mutations: Mild to moderate mental retardation
    • Yntema H, Poppelaars FA, Derksen E et al. Expanding phenotype of XNP mutations: mild to moderate mental retardation. Am J Med Genet 2002: 110: 243-247.
    • (2002) Am. J. Med. Genet. , vol.110 , pp. 243-247
    • Yntema, H.1    Poppelaars, F.A.2    Derksen, E.3
  • 84
    • 0036488079 scopus 로고    scopus 로고
    • Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene
    • Lebel R, May M, Pouls S, Lubs H, Stevenson R, Schwartz C. Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. Clin Genet 2002: 61: 139-145.
    • (2002) Clin. Genet. , vol.61 , pp. 139-145
    • Lebel, R.1    May, M.2    Pouls, S.3    Lubs, H.4    Stevenson, R.5    Schwartz, C.6
  • 85
    • 0034987448 scopus 로고    scopus 로고
    • X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome
    • Salomons GS, van Dooren SJ, Verhoeven NM et al. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet 2001: 68: 1497-1500.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1497-1500
    • Salomons, G.S.1    van Dooren, S.J.2    Verhoeven, N.M.3
  • 86
    • 18344367230 scopus 로고    scopus 로고
    • X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28
    • Hahn KA, Salomons GS, Tackels-Horne D et al. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet 2002: 70: 1349-1356.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1349-1356
    • Hahn, K.A.1    Salomons, G.S.2    Tackels-Horne, D.3
  • 87
    • 0037189325 scopus 로고    scopus 로고
    • AGTR2 mutations in X-linked mental retardation
    • Vervoort VS, Beachem MA, Edwards PS et al. AGTR2 mutations in X-linked mental retardation. Science 2002: 296: 2401-2403.
    • (2002) Science , vol.296 , pp. 2401-2403
    • Vervoort, V.S.1    Beachem, M.A.2    Edwards, P.S.3
  • 88
    • 0242446216 scopus 로고    scopus 로고
    • Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation
    • Gecz J, Barnett S, Liu J et al. Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation. Genomics 1999: 62: 356-368.
    • (1999) Genomics , vol.62 , pp. 356-368
    • Gecz, J.1    Barnett, S.2    Liu, J.3
  • 89
    • 0033999021 scopus 로고    scopus 로고
    • DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner
    • Scheer MPMS, Kubart S, Schulz A et al. DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner. Genomics 2000: 63: 123-132.
    • (2000) Genomics , vol.63 , pp. 123-132
    • Scheer, M.P.M.S.1    Kubart, S.2    Schulz, A.3
  • 90
    • 0033572435 scopus 로고    scopus 로고
    • A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation
    • Yntema HGHB, Kissing J, van Duijnhoven G et al. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics 1999: 62: 332-343.
    • (1999) Genomics , vol.62 , pp. 332-343
    • Yntema, H.G.H.B.1    Kissing, J.2    van Duijnhoven, G.3
  • 91
    • 0033843150 scopus 로고    scopus 로고
    • A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
    • Fukami M, Kirsch S, Schiller S et al. A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet 2000: 67: 563-573.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 563-573
    • Fukami, M.1    Kirsch, S.2    Schiller, S.3
  • 92
    • 0030862260 scopus 로고    scopus 로고
    • Evaluation of mental retardation: Recommendations of a Consensus Conference: American College of Medical Genetics
    • Curry CJ, Stevenson RE, Aughton D et al. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997: 72: 468-477.
    • (1997) Am. J. Med. Genet. , vol.72 , pp. 468-477
    • Curry, C.J.1    Stevenson, R.E.2    Aughton, D.3
  • 93
    • 0034044607 scopus 로고    scopus 로고
    • Psychological assessment in XLMR: A proposal for setting international standards
    • Fisch GS. Psychological assessment in XLMR: a proposal for setting international standards. Genet Couns 2000: 11: 85-101.
    • (2000) Genet. Couns. , vol.11 , pp. 85-101
    • Fisch, G.S.1
  • 94
    • 0037098635 scopus 로고    scopus 로고
    • Detecting functional asymmetries through the dipole moment of magnetoencephalography
    • Tsutada T, Ikeda H, Tsuyuguchi N et al. Detecting functional asymmetries through the dipole moment of magnetoencephalography. J Neurol Sci 2002: 198: 51-61.
    • (2002) J. Neurol. Sci. , vol.198 , pp. 51-61
    • Tsutada, T.1    Ikeda, H.2    Tsuyuguchi, N.3
  • 97
    • 0035222137 scopus 로고    scopus 로고
    • Expressing what's on your mind: DNA arrays and the brain
    • Lockhart DJ, Barlow C. Expressing what's on your mind: DNA arrays and the brain. Nat Rev Neurosci 2001: 2: 63-68.
    • (2001) Nat. Rev. Neurosci. , vol.2 , pp. 63-68
    • Lockhart, D.J.1    Barlow, C.2
  • 98
    • 0036549187 scopus 로고    scopus 로고
    • Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knockout mice
    • Gu Y, McIlwain KL, Weeber EJ et al. Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knockout mice. J Neurosci 2002: 22: 2753-2763.
    • (2002) J. Neurosci. , vol.22 , pp. 2753-2763
    • Gu, Y.1    McIlwain, K.L.2    Weeber, E.J.3
  • 99
    • 0036798191 scopus 로고    scopus 로고
    • Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
    • D'Adamo P, Welzl H, Papadimitriou S et al. Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice. Hum Mol Genet 2002: 11: 2567-2580.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2567-2580
    • D'Adamo, P.1    Welzl, H.2    Papadimitriou, S.3
  • 100
    • 0037071888 scopus 로고    scopus 로고
    • Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain
    • Morales J, Hiesinger PR, Schroeder AJ et al. Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 2002: 34: 961-972.
    • (2002) Neuron , vol.34 , pp. 961-972
    • Morales, J.1    Hiesinger, P.R.2    Schroeder, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.