3 documents found, page 1 of 1
Genome-wide association study identifies genetic factors that modify age at ons...
Akçimen, F; Martins, S; Liao, C; Bourassa, CV; Catoire, H; Nicholson, GA; Riess, O; Raposo, M; França, MC; Vasconcelos, J; Lima, M; Lopes-Cendes, IMachado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly explains the disease age at onset (AO) variability of MJD, which is confirmed in this study (Pearson's correlation coefficient R2 = 0.62). Using a total of 786 MJD patients from f...
A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapp...
Seixas, AI; Loureiro, JR; Costa, C; Ordóñez-Ugalde, A; Marcelino, H; Oliveira, CL; Loureiro, JL; Dhingra, A; Brandão, E; Cruz, VT; Timóteo, AAdvances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to reach by that technology. For autosomal-dominant spinocerebellar ataxias (SCAs), 28 genes have been identified, b...
Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmis...
Martins, S; Pearson, CE; Coutinho, P; Provost, S; Amorim, A; Dubé, MP; Sequeiros, J; Rouleau, GATwelve neurological disorders are caused by gene-specific CAG/CTG repeat expansions that are highly unstable upon transmission to offspring. This intergenerational repeat instability is clinically relevant since disease onset, progression and severity are associated with repeat size. Studies of model organisms revealed the involvement of some DNA replication and repair genes in the process of repeat instability...