Nathalie Scamuffa

TL;DR: It is concluded that mutations in the coding region of DNAH11 account for situs inversus totalis and probably a minority of cases of PCD.

TL;DR: The integration of the properties of the conserved components of human chromosome 21 to the rapidly accumulating functional data for this chromosome will improve considerably the understanding of the role of sequence conservation in mammalian genomes.

TL;DR: The expression analysis of all identifiable murine orthologues of human chromosome 21 genes is shown by RNA in situ hybridization on whole mounts and tissue sections, and by polymerase chain reaction with reverse transcription on adult tissues.

TL;DR: It is found that CNGs are significantly more conserved than protein-coding genes and noncoding RNAS (ncRNAs) within the mammalian class from primates to monotremes to marsupials.

TL;DR: Data indicate that important signaling pathways in the inner ear are controlled by proteolytic cleavage and suggest: (i) the existence of an auto-catalytic processing by which TMPRSS3 would become active, and (ii) that ENaC could be a substrate of TMPR SS3 in theinner ear.