Barbara Simionati

TL;DR: A mutation (S299R) in exon 7 of desmoplakin (DSP), which modifies a putative phosphorylation site in the N-terminal domain binding plakoglobin is identified, which might produce different clinical phenotypes, with different modes of inheritance.

TL;DR: The results provide a first glimpse into the molecular basis for life in the largest portion of the biosphere, revealing high metabolic versatility in Photobacterium profundum strain SS9.

TL;DR: The population screening of L2 mtDNAs for the mutations identified by the complete sequence study should allow the identification of marker motifs of younger age with more restricted geographic distributions, thus providing new clues about African prehistory and the origin and relationships of African ethnic groups.

TL;DR: The mitochondrial DNA of 87 index cases with Leber hereditary optic neuropathy sequentially diagnosed in Italy, including an extremely large Brazilian family of Italian maternal ancestry, was evaluated in detail, suggesting that two specific combinations of amino acid changes in the cytochrome b are the cause of the mtDNA background effect.

TL;DR: In this paper, the authors present the sequence of chromosome 3, organized into four sequence segments (contigs), and the two largest (13.5 and 9.2 Mb) correspond to the top (long) and bottom (short) arms of the chromosome 3 and two small contigs are located in the genetically defined centromere.