Skip to main content

Articles

Page 1 of 1

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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