Corpus ID: 15063593

The EPHA2 gene is associated with cataracts linked to chromosome 1p

@article{Shiels2008TheEG,
  title={The EPHA2 gene is associated with cataracts linked to chromosome 1p},
  author={Alan Shiels and Thomas M Bennett and Harry L. S. Knopf and Giovanni Maraini and Anren Li and Xiaodong Jiao and J Fielding Hejtmancik},
  journal={Molecular Vision},
  year={2008},
  volume={14},
  pages={2042 - 2055}
}
  • Alan Shiels, Thomas M Bennett, +4 authors J Fielding Hejtmancik
  • Published in Molecular vision 2008
  • Biology, Medicine
  • Molecular Vision
  • PURPOSE Cataracts are a clinically and genetically heterogeneous disorder affecting the ocular lens, and the leading cause of treatable vision loss and blindness worldwide. Here we identify a novel gene linked with a rare autosomal dominant form of childhood cataracts segregating in a four generation pedigree, and further show that this gene is likely associated with much more common forms of age-related cataracts in a case-control cohort. METHODS Genomic DNA was prepared from blood… CONTINUE READING

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    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 50 REFERENCES

    Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study.

    VIEW 5 EXCERPTS
    HIGHLY INFLUENTIAL

    Eph signaling: a structural view

    VIEW 4 EXCERPTS
    HIGHLY INFLUENTIAL

    A juvenile-onset, progressive cataract locus Molecular Vision

    • YP Conley, D Erturk, +9 authors MB. Gorin
    • Am J Hum Genet
    • 2008
    VIEW 1 EXCERPT

    Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataract.

    VIEW 1 EXCERPT