Bert Eussen

TL;DR: A fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes is identified and localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.

TL;DR: Northern blot analysis identified a shortened transcript, while reduced expression was observed in another TSC family, confirming TSC2 as the chromosome 16 TSC gene, and its protein product, tuberin, has a region of homology to the GTPase-activating protein GAP3.

TL;DR: Partial sequence analysis of the PKD1 transcript shows that it encodes a novel protein whose function is at present unknown, and a chromosome translocation associated with ADPKD that disrupts a gene (PBP) encoding a 14 kb transcript in thePKD1 candidate region is identified.

TL;DR: Patients with uveal melanoma can be classified into 3 groups, of which EIF1AX-mutated tumors and tumors without BAP1, SF3B1, or Eif1AX mutations are associated with prolonged survival and low metastatic risk, SF 3B1-mutation tumors areassociated with late metastasis, and tumors with an aberrant BAP 1 are associatedwith an early metastaticrisk and rapid decline in patient DFS.

TL;DR: Mammalian genomes contain numerous regulatory DNA sites with unknown target genes, and cell-specific long-range DNA contacts can cause variegated expression, demonstrating genetically that mammalian trans activation is possible, but suggests that it will be rare.