Browsing by Author "Antonacci, Francesca"

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  • Bekpen, Cemalettin; Marquès i Bonet, Tomàs, 1975-; Alkan, Can; Antonacci, Francesca; Leogrande, Maria Bruna; Ventura, Mario; Kidd, Jeffrey M.; Siswara, Priscillia; Howard, Jonathan C.; Eichler, Evan E. (Public Library of Science (PLoS), 2009)
    Immunity-related GTPases (IRG) play an important role in defense against intracellular pathogens. One member of this gene family in humans, IRGM, has been recently implicated as a risk factor for Crohn's disease. We analyzed ...
  • Sudmant, Peter H.; Huddleston, John; Catacchio, Claudia R.; Malig, Maika; Hillier, LeDeana W.; Baker, Carl; Mohajeri, Kiana; Kondova, Ivanela; Bontrop, Ronald E.; Persengiev, Stephan; Antonacci, Francesca; Ventura, Mario; Prado Martínez, Javier, 1987-; Marquès i Bonet, Tomàs, 1975-; Eichler, Evan E.; Project Great Ape Genome (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Copy number variation (CNV) contributes to disease and has restructured the genomes of great apes. The diversity and rate of this process, however, have not been extensively explored among great ape lineages. We analyzed ...
  • Hurle, Belen; Marquès i Bonet, Tomàs, 1975-; Antonacci, Francesca; Hughes, Inna; Ryan, Joseph F.; NISC Comparative Sequencing Program; Eichler, Evan E.; Ornitz, David M.; Green, Eric D. (BioMed Central, 2011)
    Background: Mutations in the Otopetrin 1 gene (Otop1) in mice and fish produce an unusual bilateral vestibular pathology that involves the absence of otoconia without hearing impairment. The encoded protein, Otop1, is the ...