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
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Lars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, Andreas Tzschach, Astrid Nümann, Andreas R Janecke, Ralf Spörle, Sigmar Stricker, Martine Raynaud, John Nelson, Anna Hackett, Jean-Pierre Fryns, Jamel Chelly, Arjan PM de Brouwer, Ben Hamel, Jozef Gecz, Hans-Hilger Ropers, Andreas W Kuss
PathoGenetics 2010, 3:2 (2 February 2010)
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Research
Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Cheryl Shoubridge, May Huey Tan, Tod Fullston, Desiree Cloosterman, David Coman, George McGillivray, Grazia M Mancini, Tjitske Kleefstra, Jozef Gécz
PathoGenetics 2010, 3:1 (5 January 2010)
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Review
microRNAs and genetic diseases
Nicola Meola, Vincenzo Alessandro Gennarino, Sandro Banfi
PathoGenetics 2009, 2:7 (4 November 2009)
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Review
Emerging evidence of a link between the polycystins and the mTOR pathways
Alessandra Boletta
PathoGenetics 2009, 2:6 (28 October 2009)
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Research
Regulation of TGF-β signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutant
Hilda Tateossian, Rachel E Hardisty-Hughes, Susan Morse, Maria R Romero, Helen Hilton, Charlotte Dean, Steve DM Brown
PathoGenetics 2009, 2:5 (6 July 2009)
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