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  1. Content type: Research

    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...

    Authors: 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…

    Citation: PathoGenetics 2010 3:2

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  2. Content type: Research

    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...

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

    Citation: PathoGenetics 2010 3:1

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  3. Content type: Review

    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...

    Authors: Nicola Meola, Vincenzo Alessandro Gennarino and Sandro Banfi

    Citation: PathoGenetics 2009 2:7

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  4. Content type: Research

    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

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

    Citation: PathoGenetics 2009 2:5

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  5. Content type: Research

    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...

    Authors: Alessandra Tessitore, Marinella Pirozzi and Alberto Auricchio

    Citation: PathoGenetics 2009 2:4

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  6. Content type: Review

    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...

    Authors: Anna D'Angelo and Brunella Franco

    Citation: PathoGenetics 2009 2:3

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  7. Content type: Research

    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...

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

    Citation: PathoGenetics 2009 2:2

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  8. Content type: Research

    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,...

    Authors: 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

    Citation: PathoGenetics 2009 2:1

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  9. Content type: Research

    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...

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

    Citation: PathoGenetics 2008 1:6

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  10. Content type: Research

    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. ...

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

    Citation: PathoGenetics 2008 1:5

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  11. Content type: Review

    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 ...

    Authors: Wenli Gu, Feng Zhang and James R Lupski

    Citation: PathoGenetics 2008 1:4

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  12. Content type: Methodology

    Rosa26 is a genomic mouse locus commonly used to knock-in cDNA constructs for ubiquitous or conditional gene expression in transgenic mice. However, the vectors generally used to generate Rosa26 knock-in const...

    Authors: Peter Hohenstein, Joan Slight, Derya Deniz Ozdemir, Sally F Burn, Rachel Berry and Nicholas D Hastie

    Citation: PathoGenetics 2008 1:3

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  13. Content type: Research

    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...

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

    Citation: PathoGenetics 2008 1:2

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  14. Content type: Editorial

    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...

    Authors: Andrea Ballabio and Stylianos Antonarakis

    Citation: PathoGenetics 2008 1:1

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