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  1. Research

    A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C

    Mental retardation is a genetically heterogeneous disorder, as more than 90 genes for this disorder has been found on the X chromosome alone. In addition the majority of patients are non-syndromic in that they...

    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…

    PathoGenetics 2010 3:2

    Published on: 2 February 2010

  2. 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

    Aristaless related homeobox (ARX) is a paired-type homeobox gene. ARX function is frequently affected by naturally occurring mutations. Nonsense mutations, polyalanine tract expansions and missense mutations in A...

    Cheryl Shoubridge, May Huey Tan, Tod Fullston, Desiree Cloosterman, David Coman, George McGillivray, Grazia M Mancini, Tjitske Kleefstra and Jozef Gécz

    PathoGenetics 2010 3:1

    Published on: 5 January 2010

  3. Review

    microRNAs and genetic diseases

    microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression in animals, by binding, with imperfect bas...

    Nicola Meola, Vincenzo Alessandro Gennarino and Sandro Banfi

    PathoGenetics 2009 2:7

    Published on: 4 November 2009

  4. Research

    Regulation of TGF-β signalling by Fbxo11, the gene mutated in the Jeff otitis media mouse mutant

    Jeff is a dominant mouse mutant displaying chronic otitis media. The gene underlying Jeff is Fbxo11, a member of the large F-box family, which are specificity factors for the SCF E3 ubiquitin ligase complex. Jeff

    Hilda Tateossian, Rachel E Hardisty-Hughes, Susan Morse, Maria R Romero, Helen Hilton, Charlotte Dean and Steve DM Brown

    PathoGenetics 2009 2:5

    Published on: 6 July 2009

  5. Research

    Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI

    Lysosomal storage diseases are characterized by intracellular accumulation of metabolites within lysosomes. Recent evidence suggests that lysosomal storage impairs autophagy resulting in accumulation of polyub...

    Alessandra Tessitore, Marinella Pirozzi and Alberto Auricchio

    PathoGenetics 2009 2:4

    Published on: 16 June 2009

  6. Review

    The dynamic cilium in human diseases

    Cilia are specialized organelles protruding from the cell surface of almost all mammalian cells. They consist of a basal body, composed of two centrioles, and a protruding body, named the axoneme. Although the...

    Anna D'Angelo and Brunella Franco

    PathoGenetics 2009 2:3

    Published on: 13 May 2009

  7. Research

    Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level

    Hydrolethalus syndrome (HLS) is a severe fetal malformation syndrome characterized by multiple developmental anomalies, including central nervous system (CNS) malformation such as hydrocephaly and absent midli...

    Heli Honkala, Jenni Lahtela, Heli Fox, Massimiliano Gentile, Niklas Pakkasjärvi, Riitta Salonen, Kirmo Wartiovaara, Matti Jauhiainen and Marjo Kestilä

    PathoGenetics 2009 2:2

    Published on: 28 April 2009

  8. Research

    Pancreatic islet expression profiling in diabetes-prone C57BLKS/J mice reveals transcriptional differences contributed by DBA loci, including Plagl1 and Nnt

    C57BLKS/J (BLKS) mice are susceptible to islet exhaustion in insulin-resistant states as compared with C57BL6/J (B6) mice, as observed by the presence of the leptin receptor (Lepr) allele, Leprdb/db. Furthermore,...

    Abraham A Anderson, Joan Helmering, Todd Juan, Chi-Ming Li, Jocelyn McCormick, Melissa Graham, Daniel M Baker, Michael A Damore, Murielle M Véniant and David J Lloyd

    PathoGenetics 2009 2:1

    Published on: 22 January 2009

  9. Research

    Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

    Pompe disease (PD) is a metabolic myopathy caused by α-glucosidase (GAA) deficiency and characterized by generalized glycogen storage. Heterogeneous GAA gene mutations result in wide phenotypic variability, rangi...

    Monica Cardone, Caterina Porto, Antonietta Tarallo, Mariella Vicinanza, Barbara Rossi, Elena Polishchuk, Francesca Donaudy, Generoso Andria, Maria Antonietta De Matteis and Giancarlo Parenti

    PathoGenetics 2008 1:6

    Published on: 1 December 2008

  10. Research

    Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

    Heterozygous mutations of MYH9, encoding the Non-Muscular Myosin Heavy Chain-IIA (NMMHC-IIA), cause a complex disorder named MYH9-related disease, characterized by a combination of different phenotypic features. ...

    Emanuele Panza, Monica Marini, Alessandro Pecci, Francesca Giacopelli, Valeria Bozzi, Marco Seri, Carlo Balduini and Roberto Ravazzolo

    PathoGenetics 2008 1:5

    Published on: 1 December 2008

  11. Review

    Mechanisms for human genomic rearrangements

    Genomic rearrangements describe gross DNA changes of the size ranging from a couple of hundred base pairs, the size of an average exon, to megabases (Mb). When greater than 3 to 5 Mb, such changes are usually ...

    Wenli Gu, Feng Zhang and James R Lupski

    PathoGenetics 2008 1:4

    Published on: 3 November 2008

  12. Research

    Smad4 haploinsufficiency: a matter of dosage

    The inactivation of tumor suppressor genes follows Alfred Knudson's 'two-hit' model: both alleles need to be inactivated by independent mutation events to trigger tumor formation. However, in a minority of tum...

    Paola Alberici, Claudia Gaspar, Patrick Franken, Marcin M Gorski, Ingrid de Vries, Rodney J Scott, Ari Ristimäki, Lauri A Aaltonen and Riccardo Fodde

    PathoGenetics 2008 1:2

    Published on: 3 November 2008

  13. Editorial

    Welcome to PathoGenetics

    Disease gene identification has made enormous strides in the past twenty years through functional, positional and candidate gene approaches, and more recently by the exploitation of genome-wide strategies. How...

    Andrea Ballabio and Stylianos Antonarakis

    PathoGenetics 2008 1:1

    Published on: 3 November 2008

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