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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- 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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Research
Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI
Alessandra Tessitore, Marinella Pirozzi, Alberto Auricchio
PathoGenetics 2009, 2:4 (16 June 2009)
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Review
The dynamic cilium in human diseases
Anna D'Angelo, Brunella Franco
PathoGenetics 2009, 2:3 (13 May 2009)
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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 Pakkasjärvi, Riitta Salonen, Kirmo Wartiovaara, Matti Jauhiainen, Marjo Kestilä
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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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, Nicholas D Hastie
PathoGenetics 2008, 1:3 (3 November 2008)
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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, Riccardo Fodde
PathoGenetics 2008, 1:2 (3 November 2008)
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Editorial
Welcome to PathoGenetics
Andrea Ballabio, Stylianos Antonarakis
PathoGenetics 2008, 1:1 (3 November 2008)
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