Stylianos E. Antonarakis

TL;DR: DNA from another panel of mouse-human somatic cell hybrids containing portions of human chromosome 16 was used and results were consistent with localization of the [mu]-crystallin gene on the short arm of chromosome 16 between breakpoints from hybride CY175 and CY145(D)-CY13-CY123 on chromosomal bands p13-p12.3.

TL;DR: A negative correlation was detected between BDNF and DYRK1A levels in lymphoblastoid cell lines with complete aneuploidy of human chromosome 21 and this finding indicates an upward regulatory role of Dyrk1A expression on BDNF levels inymphoblastoids cell lines and emphasizes the role of genetic variants associated with psychiatric disorders.

TL;DR: Seven novel cDNA clones with CCA or equivalent trinucleotide repeats obtained by screening a human frontal cortex cDNA library are reported, all of them highly polymorphic in a normal human population.

TL;DR: The probable function of the ITSN isoforms and mapping position of ITSN suggest that disproportionate expression of this gene may be implicated in the phenotypic characteristics of Down syndrome.

TL;DR: The clinical, cytogenetic, and molecular studies of an individual, which did not include the classical findings of Down syndrome, suggests that regions distal to 21q22.1, when present in triplicate dose, account for the major manifestations of the classical phenotype.