Affiliation: University of the Azores
Bettencourt C, Raposo M, Kazachkova N, Santos C, Kay T, Vasconcelos J, et al
. Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum. 2012;11:1045-50 pubmed publisher
..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. ..
Bettencourt C, Santos C, Kay T, Vasconcelos J, Lima M. Analysis of segregation patterns in Machado-Joseph disease pedigrees. J Hum Genet. 2008;53:920-3 pubmed publisher
..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. ..
Bettencourt C, Fialho R, Santos C, Montiel R, Bruges Armas J, Maciel P, et al
. Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). J Hum Genet. 2008;53:333-9 pubmed publisher
..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. ..
Bettencourt C, Santos C, Montiel R, Costa M, Cruz Morales P, Santos L, et al
. Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3). Neurogenetics. 2010;11:193-202 pubmed publisher
Bettencourt C, Santos C, Montiel R, Kay T, Vasconcelos J, Maciel P, et al
. The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls. Eur J Hum Genet. 2010;18:621-3 pubmed publisher
..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. ..
Bettencourt C, Raposo M, Kazachkova N, Cymbron T, Santos C, Kay T, et al
. The APOE ?2 allele increases the risk of earlier age at onset in Machado-Joseph disease. Arch Neurol. 2011;68:1580-3 pubmed publisher
..8% to 66.5%. Furthermore, the presence of the ?2 allele was associated with an onset before age 39 years (odds ratio, 5.00; 95% CI, 1.18-21.14). The polymorphism at the APOE gene plays a role as a genetic modifier of MJD phenotype. ..
Bettencourt C, Quintans B, Ros R, Ampuero I, Yáñez Z, Pascual S, et al
. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias. Hum Mutat. 2012;33:1315-23 pubmed publisher
..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...