Conceição Bettencourt

Summary

Affiliation: University of the Azores
Country: Portugal

Publications

  1. doi request reprint Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions
    Conceição Bettencourt
    Institute for Molecular and Cell Biology IBMC, University of Porto, 4150, Porto, Portugal
    J Mol Neurosci 49:539-43. 2013
  2. doi request reprint Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3)
    Conceição Bettencourt
    Institute for Molecular and Cell Biology IBMC, University of Porto, Porto, Portugal
    Cerebellum 11:1045-50. 2012
  3. doi request reprint Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias
    Conceição Bettencourt
    Laboratorio de Biologia Molecular, Instituto de Enfermedades Neurológicas, Fundación Socio Sanitaria de Castilla la Mancha, Guadalajara, Spain
    Hum Mutat 33:1315-23. 2012
  4. doi request reprint The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of Azores, Rua Mãe de Deus Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    Arch Neurol 68:1580-3. 2011
  5. pmc Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
    Conceição Bettencourt
    Center of Research in Natural Resources, University of the Azores, Ponta Delgada, Portugal
    BMC Neurol 11:131. 2011
  6. pmc The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Eur J Hum Genet 18:621-3. 2010
  7. doi request reprint Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Neurogenetics 11:193-202. 2010
  8. doi request reprint Analysis of segregation patterns in Machado-Joseph disease pedigrees
    Conceição Bettencourt
    Department of Biology, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801, Ponta Delgada, Azores, Portugal
    J Hum Genet 53:920-3. 2008
  9. doi request reprint Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
    Conceição Bettencourt
    Department of Biology CIRN, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    J Hum Genet 53:333-9. 2008
  10. pmc Machado-Joseph Disease: from first descriptions to new perspectives
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Orphanet J Rare Dis 6:35. 2011

Collaborators

Detail Information

Publications17

  1. doi request reprint Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions
    Conceição Bettencourt
    Institute for Molecular and Cell Biology IBMC, University of Porto, 4150, Porto, Portugal
    J Mol Neurosci 49:539-43. 2013
    ..Each particular allele was not directly reflected in alterations of the resulting splicing variants, indicating that AS cannot be determined solely by these cis-elements, but should result from a more complex mode of regulation...
  2. doi request reprint Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3)
    Conceição Bettencourt
    Institute for Molecular and Cell Biology IBMC, University of Porto, Porto, Portugal
    Cerebellum 11:1045-50. 2012
    ..Accordingly, in silico analysis predicted that this SNP lays in a nonconserved position for CMYB binding. Therefore, no functional effect could be predicted for this variant...
  3. doi request reprint Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias
    Conceição Bettencourt
    Laboratorio de Biologia Molecular, Instituto de Enfermedades Neurológicas, Fundación Socio Sanitaria de Castilla la Mancha, Guadalajara, Spain
    Hum Mutat 33:1315-23. 2012
    ..This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling...
  4. doi request reprint The APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of Azores, Rua Mãe de Deus Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    Arch Neurol 68:1580-3. 2011
    ..To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD)...
  5. pmc Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report
    Conceição Bettencourt
    Center of Research in Natural Resources, University of the Azores, Ponta Delgada, Portugal
    BMC Neurol 11:131. 2011
    ....
  6. pmc The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls
    Conceição Bettencourt
    Center of Research in Natural Resources and Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Eur J Hum Genet 18:621-3. 2010
    ..The slight discrepancies obtained were insufficient to cause significant differences in the distribution of the expanded alleles, and therefore no improvement in onset variance explanation was obtained with mRNA...
  7. doi request reprint Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3)
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Neurogenetics 11:193-202. 2010
    ....
  8. doi request reprint Analysis of segregation patterns in Machado-Joseph disease pedigrees
    Conceição Bettencourt
    Department of Biology, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801, Ponta Delgada, Azores, Portugal
    J Hum Genet 53:920-3. 2008
    ..982, P = 0.322). However, there was a tendency favouring the transmission of the normal alleles. Thus, SRD is not a potential mechanism on the basis of MJD epidemiological representation...
  9. doi request reprint Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal)
    Conceição Bettencourt
    Department of Biology CIRN, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801 Ponta Delgada, Azores, Portugal
    J Hum Genet 53:333-9. 2008
    ..Therefore, the genotypic composition of the transmitters in a sample to be analysed should influence the ability to detect SRD, acting as a confounding factor...
  10. pmc Machado-Joseph Disease: from first descriptions to new perspectives
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Orphanet J Rare Dis 6:35. 2011
    ..Issues related with molecular testing and Genetic Counseling, as well as recent progresses and perspectives on genetic therapy, are also addressed...
  11. doi request reprint Cross-sectional study of risk factors for atherosclerosis in the Azorean population
    Teresa Cymbron
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Ann Hum Biol 38:354-9. 2011
    ..Atherosclerosis-a major cause of vascular disease, including ischemic heart disease (IHD), is a pathology that has a two-fold higher mortality rate in the Azorean Islands compared to mainland Portugal...
  12. doi request reprint Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease
    Nadiya Kazachkova
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, Portugal
    Neurodegener Dis 11:206-14. 2013
    ..Patterns of mitochondrial damage associated with pathological findings of brain tissues could provide molecular biomarkers of this disorder...
  13. ncbi request reprint Polymorphism of the APOE locus in the Azores Islands (Portugal)
    Conceição Bettencourt
    Center of Research in Natural Resources CIRN, University of the Azores, Ponta Delgada, San Miguel, Azores, Portugal
    Hum Biol 78:509-12. 2006
    ..The data generated from this study will be of importance in the context of ongoing studies concerning the factors that influence lipid levels in the Azorean population...
  14. doi request reprint Genetic profiling of the Azores Islands (Portugal): data from 10 X-chromosome STRs
    Francisca Silva
    Center for Research in Natural Resources, and Department of Biology, University of the Azores, Ponta Delgada, Portugal
    Am J Hum Biol 22:221-3. 2010
    ..Moreover, differences between the Western group and the North of Portugal are also reported, supporting the pertinence of a specific database for the Azores populations, on what concerns the genetic markers analyzed...
  15. ncbi request reprint The African contribution to the present-day population of the Azores Islands (Portugal): analysis of the Y chromosome haplogroup E
    Domingos Neto
    Department of Biology, Center of Research in Natural Resources CIRN, University of the Azores, Portugal
    Am J Hum Biol 19:854-60. 2007
    ..The present-day representation of sub-Saharan lineages in Azores, although reduced, is higher than in other Portuguese populations, where the demographic representation of sub-Saharan slaves is reported as similar...
  16. pmc Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3)
    Mafalda Raposo
    Center of Research in Natural Resources CIRN, University of the Azores, Rua Mãe de Deus, Apartado 1422, 9501 801 Ponta Delgada, Portugal
    BMC Neurol 14:17. 2014
    ..The main goal of this work was to characterize the frequency of nystagmus in symptomatic and presymptomatic carriers of the MJD mutation, and investigate its usefulness as an early indicator of the disease...
  17. pmc Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation
    Carlos Gonzalez
    Department of Clinical Psychology, Hospital Divino Espirito Santo, Ponta Delgada, Portugal
    Genet Test Mol Biomarkers 16:1363-8. 2012
    ..The inclusion of acceptance studies, after PT, as well as the development of acceptance training actions, should be of major importance to anticipate the possibility of psychological damage...