ArticleThe Journal of investigative dermatology2014
Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.
Article in The Journal of investigative dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- Laser-induced skin microenvironment remodeling via exosomal CEBPA-mediated crosstalk between keratinocyte and fibroblast.Journal of nanobiotechnology · 2026Article
- Risk Signals of Antibody-Drug Conjugates in Bladder Cancer: A Real-World FAERS Study.Clinical epidemiology · 2025Article
- Severe cutaneous drug toxicity following disitamab vedotin treatment for metastatic gastric cancer: a case report.Frontiers in oncology · 2024Article
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
- A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.Genetics research · 2023Article
- Nectins and Nectin-like Molecules in Colorectal Cancer: Role in Diagnostics, Prognostic Values, and Emerging Treatment Options: A Literature Review.Diagnostics (Basel, Switzerland) · 2022Review
- Severe cutaneous drug toxicity following enfortumab vedotin treatment for metastatic urothelial carcinoma.JAAD case reports · 2022Article
- Review
- The biology and rationale of targeting nectin-4 in urothelial carcinoma.Nature reviews. Urology · 2021Review
- Cutaneous Toxicity Associated With Enfortumab Vedotin: A Real-Word Study Leveraging U.S. Food and Drug Administration Adverse Event Reporting System.Frontiers in oncology · 2021Article
- The multifarious regulation of the apical junctional complex.Open biology · 2020Review
- High expression of Nectin-4 is associated with unfavorable prognosis in gastric cancer.Oncology letters · 2018Article
- A Novel Missense Variant in theMolecular syndromology · 2017Article
- Closing the Gap: Mouse Models to Study Adhesion in Secondary Palatogenesis.Journal of dental research · 2017Review
- A Novel Nectin-mediated Cell Adhesion Apparatus That Is Implicated in Prolactin Receptor Signaling for Mammary Gland Development.The Journal of biological chemistry · 2016Article
- p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis.Experimental dermatology · 2015Article
- A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1.Anais brasileiros de dermatologiaArticle
Corrections and comments
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Authors and funding
14 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 identification of, to our knowledge, a previously undescribed nectin-4 homozygous p.Val242Met missense mutation in a patient with EDSS1. We used patient skin biopsy and primary keratinocytes, as well as nectin-4 ectopic expression in epithelial cell lines, to characterize functional consequences of p.Val242Met and p.Thr185Met mutations, the latter previously identified in compound heterozygosity with a truncating mutation. We show that nectin-4-altered expression perturbs nectin-1 clustering at keratinocyte contact sites and delays, but does not impede cell-cell aggregation and cadherin recruitment at adherens junctions (AJs). Moreover, trans-interaction of nectin-1 and -4 induces the activation of Rac1, a member of the Rho family of small GTPases, and regulates E-cadherin-mediated cell-cell adhesion. These data outline a synergistic action of nectin-1 and -4 in the early steps of AJ formation and implicate this interaction in modulating the Rac1 signaling pathway.
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