Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

@article{Semina1996CloningAC,
  title={Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome},
  author={E. Semina and R. Reiter and N. Leysens and W. Alward and K. Small and N. Datson and J. Siegel-Bartelt and D. Bierke-Nelson and P. Bitoun and B. Zabel and J. Carey and J. Murray},
  journal={Nature Genetics},
  year={1996},
  volume={14},
  pages={392-399}
}
  • E. Semina, R. Reiter, +9 authors J. Murray
  • Published 1996
  • Biology, Medicine
  • Nature Genetics
  • Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic characterization of a new homeobox gene, RIEG, causing this disorder. Six mutations in RIEG were found in individuals with the disorder. The cDNA sequence of Rieg, the murine homologue of RIEG, has also been isolated and shows strong homology with the human sequence. In mouse embryos Rieg… CONTINUE READING
    850 Citations

    Paper Mentions

    Observational Clinical Trial
    This study will investigate congenital or developmental eye abnormalities that affect the iris, cornea and lens, and are usually accompanied by elevated pressure within the eye. These… Expand
    ConditionsAniridia, Eye Abnormality, Ocular Hypertension, (+1 more)
    Identification of a Dominant Negative Homeodomain Mutation in Rieger Syndrome*
    • 84
    • PDF
    The Pitx2 protein in mouse development
    • 117
    SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development.
    • 113
    • PDF
    A novel homeobox mutation in the PITX2 gene in a family with Axenfeld‐Rieger syndrome associated with brain, ocular, and dental phenotypes
    • F. Idrees, A. Bloch-Zupan, +10 authors J. Sowden
    • Biology, Medicine
    • American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
    • 2006
    • 42
    The Molecular Basis of Rieger Syndrome
    • 134
    • PDF

    References

    SHOWING 1-10 OF 63 REFERENCES