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Dottorato in Genetica, Biologia Molecolare e Cellulare Scuola di Dottorato in Scienze della Vita “Camillo Golgi” - Università degli Studi di Pavia Esami del corso Molecular bases of hereditary and complex human diseases “Towards an understanding of the molecular bases of Mendelian and non-Mendelian diseases” Docenti responsabili: C. Danesino, M. Paulli, L.A. Stivala, O. Zuffardi, P. Morbini Dipartimento di Medicina Molecolare, Università di Pavia 18 Marzo 2015 Auletta di Farmacologia Palazzo Golgi/Spallanzani (Botta II) Francesca Angeletti (15:00-15:20) "A new form of macrothrombocytopenia induced by a germ line mutation in the PRKACG gene." Manchev VT et al., Blood. 2014; 124(16):2554-63 Federico Manai (15:20-15:40) "Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers." Shlien A et al., Nat Genet. 2015; 47(3):257-62. Francesca Spadaro (15:40-16:00) "Somatic mutations in cerebral cortical malformations." Jamuar SS et al., N Engl J Med. 2014; 371(8):733-43. Irene Masiello (16:00-16:20) "RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia." Papaemmanuil E et al., Nat Genet. 2014; 46(2):116-25. Francesca Zanetta (16:20-16:40) "Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5." Armbrust KR et al., J Neurosci. 2014; 34(30):9891-904. Paola Bergamaschi (16:40-17:00) "Sturge-Weber syndrome and port-wine stains caused by somatic mutations in GNAQ." Shirley MD et al., N Engl J Med. 2013; 368(21):1971-9. Claudia Badiale (17:00-17:20) "Reccurrent de novo mutations implicate novel genes underlying simplex autism risk." O’Roak BJ et al., Nat Commun. 2014; 24;5:5595. Lucia Nacci (17:20-17:40) "Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features." Lessel D et al., Nat Genet. 2014; 46(11):1239-44. Cristiana Pistono (17:40-18:00) "Cancer-associated protein kinase C mutations reveal kinases’s role as tumor suppressor." Antal CE et al., Cell. 2015; 160(3):489-502. Daniela Pignataro (18:00-18:20) "MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patients iPS cells." Djuric U et al., Neurobiol Dis. 2015; 76C:37-45. Cristina Rovelli (18:20-18:40) "The landscape of microsatellite instability in colorectal and endometrial cancer genomes." Kim TM et al., Cell. 2013; 155(4):858-68. Alessandra Rappa (18:40-19:00) "Comprehensive molecular characterization of human colon and rectal cancer." Cancer Genome Atlas Network, Nature. 2012; 487(7407):330-7.