Download Esami del corso Molecular bases of hereditary and complex human

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.