Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

@article{Fortugno2014Nectin4MC,
  title={Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.},
  author={Paola Fortugno and Emmanuelle Josselin and Konstantinos Tsiakas and Emanuele Agolini and Gianluca Cestra and Massimo Teson and Ren{\'e} Santer and Daniele Castiglia and Giuseppe Novelli and Bruno Dallapiccola and Ingo Kurth and Marc Lopez and G. M. Zambruno and Francesco Brancati},
  journal={The Journal of investigative dermatology},
  year={2014},
  volume={134 8},
  pages={2146-2153}
}
Defective nectin-1 and -4 have been implicated in ectodermal dysplasia (ED) syndromes with variably associated features including orofacial and limb defects. In particular, nectin-1 mutations cause cleft lip/palate ED (CLPED1; OMIM#225060), whereas defective nectin-4 is associated with ED-syndactyly syndrome (EDSS1; OMIM#613573). Although the broad phenotypic overlap suggests a common mode of action of nectin-1 and -4, little is known about the pathogenic mechanisms involved. We report the… CONTINUE READING

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