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Article

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

The Journal of investigative dermatology - 1 Aug 2014

Fortugno Paola, Josselin Emmanuelle, Tsiakas Konstantinos, Agolini Emanuele, Cestra Gianluca, Teson Massimo, Santer René, Castiglia Daniele, Novelli Giuseppe, Dallapiccola Bruno, Kurth Ingo, Lopez Marc, Zambruno Giovanna, Brancati Francesco

Abstract excerpt

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...

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PMID: 24577405
DOI: 10.1038/jid.2014.119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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