The missing ApoE allele (Articolo in rivista)

Type
Label
  • The missing ApoE allele (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1111/j.1469-1809.2006.00344.x (literal)
Alternative label
  • D. Seripa 1; M. G. Matera 1; A. Daniele 2; A. Bizzarro 2; M. Rinaldi 3; C. Gravina 1; L. Bisceglia 4; R. M. Corbo 5,6; F. Panza7; V. Solfrizzi 7; V. M. Fazio 8,9; G. Dal Forno 10,11; C. Masullo 2; B. Dallapiccola 12,13; A. Pilotto 1,14 (2007)
    The missing ApoE allele
    in Annals of human genetics (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • D. Seripa 1; M. G. Matera 1; A. Daniele 2; A. Bizzarro 2; M. Rinaldi 3; C. Gravina 1; L. Bisceglia 4; R. M. Corbo 5,6; F. Panza7; V. Solfrizzi 7; V. M. Fazio 8,9; G. Dal Forno 10,11; C. Masullo 2; B. Dallapiccola 12,13; A. Pilotto 1,14 (literal)
Pagina inizio
  • 496 (literal)
Pagina fine
  • 500 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni
  • Author Keywords: apoE; allele; haplotype; apoE3r; apoE1y Publisher: BLACKWELL PUBLISHING, 9600 GARSINGTON RD, OXFORD OX4 2DQ, OXON, ENGLAND Web of Science Category: Genetics & Heredity Subject Category: Genetics & Heredity IDS Number: 173ZF ISSN: 0003-4800 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 71 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1 Laboratory of Geriatrics and Gerontology, Department of Research, IRCCS \"Casa Sollievo della Sofferenza\", San Giovanni Rotondo (FG), Italy 2 Institute of Neurology, Catholic University School of Medicine, Rome, Italy 3 Institute of Neurobiology and Molecular Medicine, CNR-ARTOV, Rome, Italy 4 Laboratory of Genetics, Department of Research, IRCCS \"Casa Sollievo della Sofferenza\", San Giovanni Rotondo (FG), Italy 5 Department of Genetics and Molecular Biology, \"La Sapienza\" University, Rome, Italy 6 Institute of Molecular Biology and Pathology, CNR, Rome, Italy 7 Department of Geriatrics, Center for Aging Brain, Memory Unit, University of Bari, Bari, Italy 8 Laboratory of Oncology, Department of Research, IRCCS \"Casa Sollievo della Sofferenza\", San Giovanni Rotondo (FG), Italy 9 Laboratory of Molecular Medicine and Biotechnology, Campus Bio-Medico University School of Medicine, Rome, Italy 10 Department of Neurology, The Medical College of Wisconsin, Milwaukee, USA 11 \"Tritone\" Medical Center, Rome, Italy 12 \"CSS-Mendel\" Institute, Rome, Italy 13 Department of Research, IRCCS \"Casa Sollievo della Sofferenza\", San Giovanni Rotondo (FG), Italy 14 Geriatric Unit, Department of Medical Sciences, IRCCS \"Casa Sollievo della Sofferenza\", San Giovanni Rotondo (FG), Italy (literal)
Titolo
  • The missing ApoE allele (literal)
Abstract
  • The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three epsilon 2, epsilon 3 and epsilon 4 alleles resulting from the haplotypes of two C -> T SNPs. However, whereas the three common T-T, T-C and C-C haplotypes corresponding to the epsilon 2, epsilon 3 and epsilon 4 alleles are well known, the last C-T haplotype (GenBank accession AY077451), encoding a fourth apoE allele, has rarely been reported. We detected this fourth allele in a Caucasian patient with motor neuron disease (MND). According to the literature we refer to this allele as epsilon 3r. Although several explanations may be proposed for its formation, the existence of this fourth allele is consistent with the evolutionary hypothesis generally accepted for the apoE alleles. The rarity and physiological role of epsilon 3r remains to be explained, and requires further investigation. (literal)
  • The human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three epsilon2, epsilon3 and epsilon4 alleles resulting from the haplotypes of two C-->T SNPs. However, whereas the three common T-T, T-C and C-C haplotypes corresponding to the epsilon2, epsilon3 and epsilon4 alleles are well known, the last C-T haplotype (GenBank accession AY077451), encoding a fourth apoE allele, has rarely been reported. We detected this fourth allele in a Caucasian patient with motor neuron disease (MND). According to the literature we refer to this allele as epsilon3r. Although several explanations may be proposed for its formation, the existence of this fourth allele is consistent with the evolutionary hypothesis generally accepted for the apoE alleles. The rarity and physiological role of epsilon3r remains to be explained, and requires further investigation. (literal)
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