메뉴 건너뛰기




Volumn 12, Issue 6, 2013, Pages 902-905

Origin of the spinocerebellar ataxia type 7 gene mutation in mexican population

Author keywords

Ancestral origin; CAG repeats; Founder effect; Mexican population; Spinocerebellar ataxia type 7

Indexed keywords

ARTICLE; DNA SEQUENCE; ETHNIC GROUP; GENE FREQUENCY; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; HAPLOTYPE; HUMAN; MEXICAN; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHYLOGENETIC TREE; PRIORITY JOURNAL; PROMOTER REGION; SHORT TANDEM REPEAT; SPINOCEREBELLAR ATAXIA TYPE 7; SPINOCEREBELLAR DEGENERATION; Y CHROMOSOME;

EID: 84892405997     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-013-0505-8     Document Type: Article
Times cited : (22)

References (19)
  • 1
    • 6844254538 scopus 로고    scopus 로고
    • Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy
    • David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, et al. Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy. Hum Mol Genet. 1998;7:165-70.
    • (1998) Hum Mol Genet. , vol.7 , pp. 165-170
    • David, G.1    Durr, A.2    Stevanin, G.3    Cancel, G.4    Abbas, N.5    Benomar, A.6
  • 3
    • 16944364511 scopus 로고    scopus 로고
    • Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
    • David G, Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65-70.
    • (1997) Nat Genet. , vol.17 , pp. 65-70
    • David, G.1    Abbas, N.2    Stevanin, G.3    Dürr, A.4    Yvert, G.5    Cancel, G.6
  • 4
    • 0031647246 scopus 로고    scopus 로고
    • Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 families
    • Moseley ML, Benzow KA, Shut LJ, Bird TD, Gómez CM, Barkhaus PE, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 families. Neurology. 1998;51:1666-71.
    • (1998) Neurology. , vol.51 , pp. 1666-1671
    • Moseley, M.L.1    Benzow, K.A.2    Shut, L.J.3    Bird, T.D.4    Gómez, C.M.5    Barkhaus, P.E.6
  • 6
    • 19244364538 scopus 로고    scopus 로고
    • The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: Genetic and physical mapping of the SCA7 locus
    • David G, Giunti P, Abbas N, Coullin P, Stevanin G, Horta W, et al. The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus. Am J Hum Genet. 1996;59:1328-36.
    • (1996) Am J Hum Genet. , vol.59 , pp. 1328-1336
    • David, G.1    Giunti, P.2    Abbas, N.3    Coullin, P.4    Stevanin, G.5    Horta, W.6
  • 7
    • 0033401987 scopus 로고    scopus 로고
    • Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/ A3145TG)
    • Stevanin G, David G, Dürr A, Giunti P, Benomar A, Abada-Bendib M, et al. Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/ A3145TG). Eur J Hum Genet. 1999;7:889-96.
    • (1999) Eur J Hum Genet. , vol.7 , pp. 889-896
    • Stevanin, G.1    David, G.2    Dürr, A.3    Giunti, P.4    Benomar, A.5    Abada-Bendib, M.6
  • 8
    • 80052584761 scopus 로고    scopus 로고
    • Paternal genetic history of the Basque population of Spain
    • Young KL, Sun G, Deka R, Crawford MH. Paternal genetic history of the Basque population of Spain. Hum Biol. 2011;83:455-75.
    • (2011) Hum Biol. , vol.83 , pp. 455-475
    • Young, K.L.1    Sun, G.2    Deka, R.3    Crawford, M.H.4
  • 9
    • 78650072432 scopus 로고    scopus 로고
    • A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe
    • Myres NM, Rootsi S, Lin AA, Järve M, King RJ, Kutuev I, et al. A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe. Eur J Hum Genet. 2011;19:95-101.
    • (2011) Eur J Hum Genet. , vol.19 , pp. 95-101
    • Myres, N.M.1    Rootsi, S.2    Lin, A.A.3    Järve, M.4    King, R.J.5    Kutuev, I.6
  • 11
    • 72449150146 scopus 로고    scopus 로고
    • The Andalusian population from Huelva reveals a high diversification of YDNA paternal lineages from haplogroup E: Identifying human male movements within the Mediterranean space
    • Ambrosio B, Dugoujon JM, Hernández C, De La Fuente D, González-Martín A, Fortes-Lima CA, et al. The Andalusian population from Huelva reveals a high diversification of YDNA paternal lineages from haplogroup E: identifying human male movements within the Mediterranean space. Ann Hum Biol. 2010;37:86-107.
    • (2010) Ann Hum Biol. , vol.37 , pp. 86-107
    • Ambrosio, B.1    Dugoujon, J.M.2    Hernández, C.3    De La Fuente, D.4    González-Martín, A.5    Fortes-Lima, C.A.6
  • 13
    • 84862993094 scopus 로고    scopus 로고
    • Y-STR variation in the Basque diaspora in the Western USA: Evolutionary and forensic perspectives
    • Valverde L, Rosique M, Köhnemann S, Cardoso S, García A, Odriozola A, et al. Y-STR variation in the Basque diaspora in the Western USA: evolutionary and forensic perspectives. Int J Legal Med. 2012;126:293-8.
    • (2012) Int J Legal Med. , vol.126 , pp. 293-298
    • Valverde, L.1    Rosique, M.2    Köhnemann, S.3    Cardoso, S.4    García, A.5    Odriozola, A.6
  • 14
    • 84874407536 scopus 로고    scopus 로고
    • On the origins, rapid expansion and genetic diversity of Native Americans from hunting-gatherers to agriculturalists
    • Regueiro M, Álvarez J, Rowold D, Herrera RJ. On the origins, rapid expansion and genetic diversity of Native Americans from hunting-gatherers to agriculturalists. Am J Phys Anthropol. 2013;150:333-48.
    • (2013) Am J Phys Anthropol. , vol.150 , pp. 333-348
    • Regueiro, M.1    Álvarez, J.2    Rowold, D.3    Herrera, R.J.4
  • 18
    • 0034676589 scopus 로고    scopus 로고
    • Clinical and genetic studies of a family from Peru affected by spinocerebellar ataxia type 7
    • Castañeda MA, Ávalos C, Jerí FR. Clinical and genetic studies of a family from Peru affected by spinocerebellar ataxia type 7. Rev Neurol. 2000;31:923-8.
    • (2000) Rev Neurol. , vol.31 , pp. 923-928
    • Castañeda, M.A.1    Ávalos, C.2    Jerí, F.R.3
  • 19
    • 84863971442 scopus 로고    scopus 로고
    • Spinocerebellar ataxias: Genotype-phenotype correlations in 104 Brazilian families
    • Teive HA, Munhoz RP, Arrunda WO, et al. Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families. Clinics. 2012;67:443-9.
    • (2012) Clinics. , vol.67 , pp. 443-449
    • Teive, H.A.1    Munhoz, R.P.2    Arrunda, W.O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.