Pathogenetics Volume 1; 2008

		Other Issues: previous \| next \| latest \| archive Volume 1; 2008 Editorial Welcome to PathoGenetics Andrea Ballabio and Stylianos Antonarakis Pathogenetics. 2008; 1: 1. Published online 2008 November 3. doi: 10.1186/1755-8417-1-1. PMCID: PMC2580038 \| Abstract \| Full Text \| PDF–138K \| Methodology High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAi Peter Hohenstein, Joan Slight, Derya Deniz Ozdemir, Sally F Burn, Rachel Berry, and Nicholas D Hastie Pathogenetics. 2008; 1: 3. Published online 2008 November 3. doi: 10.1186/1755-8417-1-3. PMCID: PMC2583990 \| Abstract \| Full Text \| PDF–536K \| Supplementary Material \| Research Smad4 haploinsufficiency: a matter of dosage Paola Alberici, Claudia Gaspar, Patrick Franken, Marcin M Gorski, Ingrid de Vries, Rodney J Scott, Ari Ristimäki, Lauri A Aaltonen, and Riccardo Fodde Pathogenetics. 2008; 1: 2. Published online 2008 November 3. doi: 10.1186/1755-8417-1-2. PMCID: PMC2580039 \| Abstract \| Full Text \| PDF–1.7M \| Supplementary Material \| Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines Emanuele Panza, Monica Marini, Alessandro Pecci, Francesca Giacopelli, Valeria Bozzi, Marco Seri, Carlo Balduini, and Roberto Ravazzolo Pathogenetics. 2008; 1: 5. Published online 2008 December 1. doi: 10.1186/1755-8417-1-5. PMCID: PMC2633265 \| Abstract \| Full Text \| PDF–463K \| Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts Monica Cardone, Caterina Porto, Antonietta Tarallo, Mariella Vicinanza, Barbara Rossi, Elena Polishchuk, Francesca Donaudy, Generoso Andria, Maria Antonietta De Matteis, and Giancarlo Parenti Pathogenetics. 2008; 1: 6. Published online 2008 December 1. doi: 10.1186/1755-8417-1-6. PMCID: PMC2635360 \| Abstract \| Full Text \| PDF–1.4M \| Review Mechanisms for human genomic rearrangements Wenli Gu, Feng Zhang, and James R Lupski Pathogenetics. 2008; 1: 4. Published online 2008 November 3. doi: 10.1186/1755-8417-1-4. PMCID: PMC2583991 \| Abstract \| Full Text \| PDF–748K \|
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