Stylianos E. Antonarakis

TL;DR: The results suggest that the Aire protein is associated with the normal development and action of a subset of thymic medullary stromal cells involved in tolerance induction.

TL;DR: Examining expression of the mouse orthologs of Hsa21 in the partial trisomy mouse model Ts65Dn provides candidate genes that might be involved in the phenotypes of Down syndrome, and reveals a complex regulation of gene expression that is not only related to gene copy number.

TL;DR: It is suggested that these novel human genes with triplet repeats are candidates for causing neuropsychiatric diseases, such as Huntington's disease, bipolar affective disorder, and possibly others, show features of anticipation.

TL;DR: The in vivo terminus of an elongated RNA is defined and it is established that human beta‐globin transcription may extend at least 900 nucleotides 3′ of the normal polyadenylation site.

TL;DR: Given the results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locusD21S58 is excluded from significant contribution to many Down syndrome features, the minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized.