메뉴 건너뛰기




Volumn 47, Issue 1, 1997, Pages 23-29

Molecular Analysis of the Androgen Receptor Gene in Kennedy’s Disease

Author keywords

Androgen receptor; CAG repeat; Kennedy and rsquo; s disease; Spinobulbar muscular atrophy

Indexed keywords

ANDROGEN RECEPTOR;

EID: 0031014858     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000185363     Document Type: Article
Times cited : (20)

References (44)
  • 6
    • 0027480960 scopus 로고
    • A novel gene containing a trinu-clcotide repeat that is expanded and unstable on Huntington’s disease chromosomes
    • The Huntington’s Disease Collaborative Research Group: A novel gene containing a trinu-clcotide repeat that is expanded and unstable on Huntington’s disease chromosomes, Cell 1993:72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
  • 9
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeek K: Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy, Nature 1991;352:77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeek, K.5
  • 10
    • 0014310582 scopus 로고
    • Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait
    • Kennedy WR, Alter M, Sung JH: Progressive proximal spinal and bulbar muscular atrophy of late onset: A sex-linked recessive trait, Neurology 1968;18:671-680.
    • (1968) Neurology , vol.18 , pp. 671-680
    • Kennedy, W.R.1    Alter, M.2    Sung, J.H.3
  • 11
    • 0025735846 scopus 로고
    • Clinical and electrodiagnostic features of X-linkcd recessive bulbospinal ncuronopathy
    • Olney RK, Aminof TMJ, So YT: Clinical and electrodiagnostic features of X-linkcd recessive bulbospinal ncuronopathy, Neurology 1991; 41:823-828.
    • (1991) Neurology , vol.41 , pp. 823-828
    • Olney, R.K.1    Aminof, T.2    So, Y.T.3
  • 12
    • 0020584152 scopus 로고
    • A family with adull spinal and bulbar muscular atrophy, X-linkcd inheritance and associated testicular failure
    • Arbizu T, Sanlamaria J, Gomez JM, Quilez A, Serra JP: A family with adull spinal and bulbar muscular atrophy, X-linkcd inheritance and associated testicular failure, J of Neurol Sci 1983: 59:371-382.
    • (1983) J of Neurol Sci , vol.59 , pp. 371-382
    • Arbizu, T.1    Sanlamaria, J.2    Gomez, J.M.3    Quilez, A.4    Serra, J.P.5
  • 13
    • 0026544312 scopus 로고
    • Androgen resistance - The clinical and molecular spectrum
    • Griffin JK: Androgen resistance - The clinical and molecular spectrum, N Engl J Med 1992; 326:611-618.
    • (1992) N Engl J Med , vol.326 , pp. 611-618
    • Griffin, J.K.1
  • 14
    • 85025557840 scopus 로고
    • Molecular aspects of sex differentiation - Applications in pathological conditions; in Bergada C, Mogui-levsky JA (Eds): Frontiers in Endocrinology, Puberty: Basic and Clinical Aspects, Roma
    • Sultan C, Lobaccaro JM, Lumbroso S, Boudon C, Poujol N, Belon C, Dumas R: Molecular aspects of sex differentiation - Applications in pathological conditions; in Bergada C, Mogui-levsky JA (eds): Frontiers in Endocrinology, Puberty: Basic and Clinical Aspects, Roma, Scrono Symposia Publications, 1995, vol 10, pp2l-35.
    • (1995) Scrono Symposia Publications , vol.10 , pp. 2l-35
    • Sultan, C.1    Lobaccaro, J.M.2    Lumbroso, S.3    Boudon, C.4    Poujol, N.5    Belon, C.6    Dumas, R.7
  • 15
    • 0026551039 scopus 로고
    • Genetic variation at five trim-eric and tetrameric tandem repeat loci in four human population groups
    • Edwards A, Hammond HA, Jin L„ Caskey CT, Chakraborty R: Genetic variation at five trim-eric and tetrameric tandem repeat loci in four human population groups, Genomics 1992:12: 241-253.
    • (1992) Genomics , vol.12 , pp. 241-253
    • Edwards, A.1    Hammond, H.A.2    Jin, L.3    Caskey, C.T.4    Chakraborty, R.5
  • 16
    • 0023913120 scopus 로고
    • The steroid and thyroid hormone receptor supcrfamily
    • Evans RM: The steroid and thyroid hormone receptor supcrfamily, Science 1988:240:889-895.
    • (1988) Science , vol.240 , pp. 889-895
    • Evans, R.M.1
  • 18
    • 0027424264 scopus 로고
    • A new mutation within the DNA-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome and positive receptor-binding activity
    • Lumbroso S, Lobaccaro J-M, Belon C, Martin-Coignard D, Chaussain J-L, Sultan C: A new mutation within the DNA-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome and positive receptor-binding activity, Fertil Steril 1993;60:814-819.
    • (1993) Fertil Steril , vol.60 , pp. 814-819
    • Lumbroso, S.1    Lobaccaro, J.-M.2    Belon, C.3    Martin-Coignard, D.4    Chaussain, J.-L.5    Sultan, C.6
  • 22
    • 0027291710 scopus 로고
    • Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathv
    • Sobue G, Doyu M, Kachi T, Yasuda T, Mukai E, Kumagai T, Mitsuma T: Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathv, J Neurol Sci 1993:117:74-78.
    • (1993) J Neurol Sci , vol.117 , pp. 74-78
    • Sobue, G.1    Doyu, M.2    Kachi, T.3    Yasuda, T.4    Mukai, E.5    Kumagai, T.6    Mitsuma, T.7
  • 24
    • 0026456689 scopus 로고
    • Severity of X-linkcd recessive bulbospinal ncuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene
    • Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, Mitsuma T, Takahashi A: Severity of X-linkcd recessive bulbospinal ncuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene, Ann Neurol 1992:32: 707-710.
    • (1992) Ann Neurol , vol.32 , pp. 707-710
    • Doyu, M.1    Sobue, G.2    Mukai, E.3    Kachi, T.4    Yasuda, T.5    Mitsuma, T.6    Takahashi, A.7
  • 26
    • 0028153995 scopus 로고
    • Aberrant androgen action and increased size of tandem CAG repeat in androgen receptor gene in X-linked recessive bulbospinal neuronopathy
    • Sobue G, Doyu M, Morishima T, Mukai E, Yasuda T, Kachi T, Mitsuma T: Aberrant androgen action and increased size of tandem CAG repeat in androgen receptor gene in X-linked recessive bulbospinal neuronopathy, J Neurol Sci 1994:121:167-171.
    • (1994) J Neurol Sci , vol.121 , pp. 167-171
    • Sobue, G.1    Doyu, M.2    Morishima, T.3    Mukai, E.4    Yasuda, T.5    Kachi, T.6    Mitsuma, T.7
  • 28
    • 0028843242 scopus 로고    scopus 로고
    • Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (Spinal and bulbar muscular atrophy)
    • Maclean HE, Choi WT, Rekaris G, Warne GL, Zajac JD: Abnormal androgen receptor binding affinity in subjects with Kennedy's disease (spinal and bulbar muscular atrophy), J Clin Endocrinol Metab 995;80:508-516.
    • J Clin Endocrinol Metab , vol.995-980 , pp. 508-516
    • Maclean, H.E.1    Choi, W.T.2    Rekaris, G.3    Warne, G.L.4    Zajac, J.D.5
  • 30
    • 0027314736 scopus 로고
    • Trinucleotide repeat instability: When and where?
    • Nelson DL, Warren ST: Trinucleotide repeat instability: When and where? Nat Genet 1993; 4:107-108.
    • (1993) Nat Genet , vol.4 , pp. 107-108
    • Nelson, D.L.1    Warren, S.T.2
  • 31
    • 0027982427 scopus 로고
    • Studying human mutations by sperm typing: Instability of CAG trinuclcotidc repeats in the human androgen receptor gene
    • Zhang L, Leeflang EP, Yu J, Arnheim N: Studying human mutations by sperm typing: Instability of CAG trinuclcotidc repeats in the human androgen receptor gene, Nat Genet 1994;7:531-535.
    • (1994) Nat Genet , vol.7 , pp. 531-535
    • Zhang, L.1    Leeflang, E.P.2    Yu, J.3    Arnheim, N.4
  • 34
    • 0022550536 scopus 로고
    • Androgens regulate the dendritic length of mammalian motoneurons in adulthood
    • Kurz EM, Sengelaub DR, Arnold AP: Androgens regulate the dendritic length of mammalian motoneurons in adulthood, Science 1986; 232:395-398.
    • (1986) Science , vol.232 , pp. 395-398
    • Kurz, E.M.1    Sengelaub, D.R.2    Arnold, A.P.3
  • 35
    • 0024389638 scopus 로고
    • Administration of testosterone attenuates neuronal loss following axotomy in the brain-stern nuclei of female rats
    • Yu WA: Administration of testosterone attenuates neuronal loss following axotomy in the brain-stern nuclei of female rats, J Neurosci 1989;9:3908-3914.
    • (1989) J Neurosci , vol.9 , pp. 3908-3914
    • Yu, W.A.1
  • 36
    • 0022397928 scopus 로고
    • Androgens prevent normally occurring cell death in a sexually dimorphic spinal nucleus
    • Nordeen EJ, Nordecn KW, Sengelaub DR, Arnold AP: Androgens prevent normally occurring cell death in a sexually dimorphic spinal nucleus, Science 1985;229:671-673.
    • (1985) Science , vol.229 , pp. 671-673
    • Nordeen, E.J.1    Nordecn, K.W.2    Sengelaub, D.R.3    Arnold, A.P.4
  • 38
    • 0029129227 scopus 로고
    • Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease
    • Brooks BP, Fischbeck KH: Spinal and bulbar muscular atrophy: A trinucleotide-repeat expansion neurodegenerative disease, Trends Neurosci 1995;18:459-461.
    • (1995) Trends Neurosci , vol.18 , pp. 459-461
    • Brooks, B.P.1    Fischbeck, K.H.2
  • 39
    • 0027366138 scopus 로고
    • Reduced transcriptional regulatory competence of the androgen receptor in X-linkcd spinal and bulbar muscular atrophy
    • Mahtre AN, Trifiro MA, Kaufman M, Kazemi EP, Figlewicz D, Rouleau G, Pinsky L: Reduced transcriptional regulatory competence of the androgen receptor in X-linkcd spinal and bulbar muscular atrophy, Nat Genet 1993:5: 184-188.
    • (1993) Nat Genet , vol.5 , pp. 184-188
    • Mahtre, A.N.1    Trifiro, M.A.2    Kaufman, M.3    Kazemi, E.P.4    Figlewicz, D.5    Rouleau, G.6    Pinsky, L.7
  • 40
    • 0028033594 scopus 로고
    • The length and location of CAG trinucleotide repeats in the androgen receptor n-terminal domain affect transactivation function
    • Chamberlain NL, Driver ED, Miesfeld RL: The length and location of CAG trinucleotide repeats in the androgen receptor n-terminal domain affect transactivation function, Nucleic Acids Res 1994:22:3181-3186.
    • (1994) Nucleic Acids Res , vol.22 , pp. 3181-3186
    • Chamberlain, N.L.1    Driver, E.D.2    Miesfeld, R.L.3
  • 41
    • 0028922314 scopus 로고
    • Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: Possible pathogenetic relevance for the (CAG)(n)-expanded neuronopathies
    • Kazemi-Esfarjani P, Trifiro MA, Pinsky L: Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: Possible pathogenetic relevance for the (CAG)(n)-expanded neuronopathies, Hum Mol Genet 1995;4:523-527.
    • (1995) Hum Mol Genet , vol.4 , pp. 523-527
    • Kazemi-Esfarjani, P.1    Trifiro, M.A.2    Pinsky, L.3
  • 42
    • 0027507667 scopus 로고
    • Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism
    • Green H: Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism, Cell 1993;74:955-956.
    • (1993) Cell , vol.74 , pp. 955-956
    • Green, H.1
  • 43
    • 0028283985 scopus 로고
    • Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases
    • Perutz MF, Johnson T, Suzuki M, Finch JT: Glutamine repeats as polar zippers: Their possible role in inherited neurodegenerative diseases, Proc Natl Acad Sci USA 1994;91:5355-5358.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 5355-5358
    • Perutz, M.F.1    Johnson, T.2    Suzuki, M.3    Finch, J.T.4
  • 44
    • 0028220405 scopus 로고
    • Trinucleotide repeats in neurologic diseases: A hypothesis concerning the pathogenesis of Huntington’s disease, Kennedy’s disease, and spinocerebellar ataxia type I
    • Cha J-HJ, Dure IV LS: Trinucleotide repeats in neurologic diseases: A hypothesis concerning the pathogenesis of Huntington’s disease, Kennedy’s disease, and spinocerebellar ataxia type I, Life Sci 1994;54:1459-1464.
    • (1994) Life Sci , vol.54 , pp. 1459-1464
    • Cha, J.-H.1    Dure, I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.