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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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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 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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microRNAs and genetic diseases
Nicola Meola, Vincenzo Gennarino, Sandro Banfi PathoGenetics 2009, 2:7 (4 November 2009)
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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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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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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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The dynamic cilium in human diseases
Anna D'Angelo, Brunella Franco PathoGenetics 2009, 2:3 (13 May 2009)
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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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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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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 De Matteis, Giancarlo Parenti PathoGenetics 2008, 1:6 (1 December 2008)
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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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Mechanisms for human genomic rearrangements
Wenli Gu, Feng Zhang, James R Lupski PathoGenetics 2008, 1:4 (3 November 2008)
Abstract | Full text | PDF | PubMed | Cited on BioMed Central
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High-efficiency Rosa26 knock-in vector construction for Cre-regulated overexpression and RNAi
Peter Hohenstein, Joan Slight, Derya Ozdemir, Sally F Burn, Rachel Berry, Nicholas D Hastie PathoGenetics 2008, 1:3 (3 November 2008)
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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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Welcome to PathoGenetics
Andrea Ballabio, Stylianos Antonarakis PathoGenetics 2008, 1:1 (3 November 2008)
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