Stylianos E. Antonarakis

TL;DR: The isolation and characterization of a polymorphic pentanucleotide repeat (TAAAA)n, which was mapped to human chromosomes X and Y (loci DXYS156X andDXYS156Y) by PCR amplification of DNA from a monochromosomal somatic cell hybrid panel (NIGMS panel 2).

TL;DR: The mutant TMPR SS3 harboring the novel R216L missense mutation within the predicted cleavage site of the protein fails to undergo proteolytic cleavage and is unable to activate ENaC, thus providing evidence that pre-cleavage of TMPRSS3 is mandatory for normal function.

TL;DR: It is concluded that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific Bace1 allele and APOE ε4 may increase the risk for Alzheimer disease over and above that attributed to APOEε4 alone.

TL;DR: 2 new families with MHA/FTNS phenotypes that have been characterized in terms of their mutations, protein localization in megakaryocytes, protein expression, and mRNA stability are described and it is hypothesized that haploinsufficiency of the MYH9 results in a failure to properly reorganize the cytoskeleton in megAKaryocytes as required for efficient platelet production.

TL;DR: It is demonstrated that different mutations of CLDN14 impaired by different mechanisms the ability of the protein to form tight junctions, which is crucial for the hearing process.