Inhibition of Gap Junction Communication at Ectopic Eph/ephrin Boundaries Underlies Craniofrontonasal Syndrome

@article{Davy2006InhibitionOG,
  title={Inhibition of Gap Junction Communication at Ectopic Eph/ephrin Boundaries Underlies Craniofrontonasal Syndrome},
  author={Alice Davy and Jeffrey O Bush and Philippe Soriano},
  journal={PLoS Biology},
  year={2006},
  volume={4},
  pages={465 - 480}
}
Mutations in X-linked ephrin-B1 in humans cause craniofrontonasal syndrome (CFNS), a disease that affects female patients more severely than males. Sorting of ephrin-B1-positive and -negative cells following X-inactivation has been observed in ephrin-B1(+/-) mice; however, the mechanisms by which mosaic ephrin-B1 expression leads to cell sorting and phenotypic defects remain unknown. Here we show that ephrin-B1(+/-) mice exhibit calvarial defects, a phenotype autonomous to neural crest cells… CONTINUE READING

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