Editors-in-Chief: Stylianos Antonarakis, University of Geneva Medical School; Andrea Ballabio, Director, Telethon Institute of Genetics and Medicine, Professor of Medical Genetics, University of Naples Federico II
Pathogenetics is a peer-reviewed, online open access journal, which
features studies on the pathogenesis of genetic diseases, phenotypes and traits.
Such studies may use molecular, biochemical, cellular, and physiological methods,
as well as genome-wide approaches, to provide novel insights into the biological
mechanisms underlying the phenotypic manifestations of genetic diseases.
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Latest articles
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Research
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level Heli Honkala, Jenni Lahtela, Heli Fox, Massimiliano Gentile, Niklas Pakkasjarvi, Riitta Salonen, Kirmo Wartiovaara, Matti Jauhiainen, Marjo Kestila PathoGenetics 2009, 2:2 (28 April 2009) [Abstract] [Provisional PDF] [PubMed] [Related articles]
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Research
Pancreatic islet expression profiling in diabetes-prone C57BLKS/J mice reveals transcriptional differences contributed by DBA loci, including Plagl1 and Nnt Abraham A Anderson, Joan Helmering, Todd Juan, Chi-Ming Li, Jocelyn McCormick, Melissa Graham, Daniel M Baker, Michael A Damore, Murielle M Véniant, David J Lloyd PathoGenetics 2009, 2:1 (22 January 2009) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Research
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, Giancarlo Parenti PathoGenetics 2008, 1:6 (1 December 2008) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Research
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, Roberto Ravazzolo PathoGenetics 2008, 1:5 (1 December 2008) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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Review
Mechanisms for human genomic rearrangements Wenli Gu, Feng Zhang, James R Lupski PathoGenetics 2008, 1:4 (3 November 2008) [Abstract] [Full Text] [PDF] [PubMed] [Related articles]
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