Cheryl Shoubridge

Summary

Affiliation: University of Adelaide
Country: Australia

Publications

  1. ncbi Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
    Cheryl Shoubridge
    Neurogenetics Laboratory, Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Eur J Hum Genet 20:1311-4. 2012
  2. ncbi Polyalanine tract disorders and neurocognitive phenotypes
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Adv Exp Med Biol 769:185-203. 2012
  3. ncbi ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mol Genet 21:1639-47. 2012
  4. ncbi ARX spectrum disorders: making inroads into the molecular pathology
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mutat 31:889-900. 2010
  5. ncbi Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
    Cheryl Shoubridge
    Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
    Nat Genet 42:486-8. 2010
  6. ncbi Preferential intestinal delivery of long[Arg3] insulin-like growth factor (LR3IGF-I) over IGF-I in preweaning and adult rats
    C A Shoubridge
    Child Health Research Institute and Cooperative Research Centre for Tissue Growth and Repair, North Adelaide, South Australia 5006, Australia
    Endocrinology 144:1887-93. 2003
  7. ncbi IGFBP mRNA expression in small intestine of rat during postnatal development
    C A Shoubridge
    Child Health Research Institute and Cooperative Research Centre for Tissue Growth and Repair, North Adelaide, South Australia 5006, Australia
    Am J Physiol Gastrointest Liver Physiol 281:G1378-84. 2001
  8. ncbi Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
    Cheryl Shoubridge
    Department of Genetic Medicine, Women s and Children s Hospital, Adelaide 5006, Australia
    Genomics 90:59-71. 2007
  9. ncbi Enhancement of intestinal growth and repair by growth factors
    G S Howarth
    Child Health Research Institute, North Adelaide, South Australia
    Curr Opin Pharmacol 1:568-74. 2001
  10. ncbi X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Leanne M Dibbens
    Department of Genetic Medicine, Level 9 Rieger Building, Women s and Children s Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia
    Nat Genet 40:776-81. 2008

Detail Information

Publications12

  1. ncbi Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
    Cheryl Shoubridge
    Neurogenetics Laboratory, Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Eur J Hum Genet 20:1311-4. 2012
    ..429_452dup mutation may be due to asymmetry of meiosis in the oocyte. Our findings may have implications for genetic counselling of families segregating the c.429_452dup mutation and allude to putative role of ARX in oocyte biology...
  2. ncbi Polyalanine tract disorders and neurocognitive phenotypes
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia, Australia
    Adv Exp Med Biol 769:185-203. 2012
    ..Gaining insights into the mechanisms that underlie the pathogenesis of different expanded polyalanine tract mutations will be a necessary step on the path to the design of potential treatment strategies for the associated diseases...
  3. ncbi ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mol Genet 21:1639-47. 2012
    ..In conclusion, the missense mutations in the ARX homeodomain represent loss-of-function mutations, which lead to a reduced or complete loss of DNA binding and as a consequence, a loss of transcriptional repression...
  4. ncbi ARX spectrum disorders: making inroads into the molecular pathology
    Cheryl Shoubridge
    Department of Genetics and Molecular Pathology, SA Pathology at the Women s and Children s Hospital, North Adelaide, South Australia 5006, Australia
    Hum Mutat 31:889-900. 2010
    ....
  5. ncbi Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
    Cheryl Shoubridge
    Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia
    Nat Genet 42:486-8. 2010
    ..In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing...
  6. ncbi Preferential intestinal delivery of long[Arg3] insulin-like growth factor (LR3IGF-I) over IGF-I in preweaning and adult rats
    C A Shoubridge
    Child Health Research Institute and Cooperative Research Centre for Tissue Growth and Repair, North Adelaide, South Australia 5006, Australia
    Endocrinology 144:1887-93. 2003
    ..Hence, selective delivery to the gut is unlikely to explain the markedly higher potency of (125)I-LR(3)IGF-I in stimulating growth of the preweaning vs. adult intestine...
  7. ncbi IGFBP mRNA expression in small intestine of rat during postnatal development
    C A Shoubridge
    Child Health Research Institute and Cooperative Research Centre for Tissue Growth and Repair, North Adelaide, South Australia 5006, Australia
    Am J Physiol Gastrointest Liver Physiol 281:G1378-84. 2001
    ..Therefore, changes to local IGFBP expression may contribute to the varying response of the rat intestine to IGF-I peptides during postnatal development...
  8. ncbi Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
    Cheryl Shoubridge
    Department of Genetic Medicine, Women s and Children s Hospital, Adelaide 5006, Australia
    Genomics 90:59-71. 2007
    ..We established the nuclear localization regions of the ARX homeodomain that were required for the interaction with IPO13 and correct localization of the full-length ARX transcription factor to the nucleus...
  9. ncbi Enhancement of intestinal growth and repair by growth factors
    G S Howarth
    Child Health Research Institute, North Adelaide, South Australia
    Curr Opin Pharmacol 1:568-74. 2001
    ....
  10. ncbi X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
    Leanne M Dibbens
    Department of Genetic Medicine, Level 9 Rieger Building, Women s and Children s Hospital, 72 King William Road, North Adelaide, South Australia 5006, Australia
    Nat Genet 40:776-81. 2008
    ..PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation...
  11. ncbi A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
    Lingli Huang
    Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia
    Am J Hum Genet 91:694-702. 2012
    ..Two other nonsynonymous, potentially deleterious changes have been identified by X-exome sequencing in individuals with intellectual disability, implicating HCFC1 in normal brain function...
  12. ncbi The genetic landscape of intellectual disability arising from chromosome X
    Jozef Gecz
    Molecular Pathology, SA Pathology at Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Trends Genet 25:308-16. 2009
    ..1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated...