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)
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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)
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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)
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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)
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Review
Mechanisms for human genomic rearrangements
Wenli Gu, Feng Zhang, James R Lupski
PathoGenetics 2008, 1:4 (3 November 2008)
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