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Nectinopathies: an emerging group of ectodermal dysplasia syndromes.
G Ital Dermatol Venereol. 2013 Feb; 148(1):59-64.GI

Abstract

Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging class of molecules acting in cooperation with cadherins to form cell-cell adhesion especially at adherens junctions. Their role in skin, hair and teeth biology and in the fine-tuning morphogenesis of craniofacial (lip/palate) and limbs is yet to be outlined prompting future research. We propose refer to these entities (nectin 1-ED and nectin 4-ED) as "nectinopathies", which are likely to be underestimated/underdiagnosed ED syndomes.

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Authors+Show Affiliations

Brancati F
Department of Medical, Oral and Biotechnological Sciences, Gabriele D'Annunzio University of Chieti-Pescara, Chieti, Italy. f.brancati@css-mendel.it
Agolini E
No affiliation info available
Fortugno P
No affiliation info available

MeSH

Cell Adhesion MoleculesEctodermal DysplasiaHumansMutationNectins

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

23407077

Citation

Brancati, F, et al. "Nectinopathies: an Emerging Group of Ectodermal Dysplasia Syndromes." Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia, vol. 148, no. 1, 2013, pp. 59-64.
Brancati F, Agolini E, Fortugno P. Nectinopathies: an emerging group of ectodermal dysplasia syndromes. G Ital Dermatol Venereol. 2013;148(1):59-64.
Brancati, F., Agolini, E., & Fortugno, P. (2013). Nectinopathies: an emerging group of ectodermal dysplasia syndromes. Giornale Italiano Di Dermatologia E Venereologia : Organo Ufficiale, Societa Italiana Di Dermatologia E Sifilografia, 148(1), 59-64.
Brancati F, Agolini E, Fortugno P. Nectinopathies: an Emerging Group of Ectodermal Dysplasia Syndromes. G Ital Dermatol Venereol. 2013;148(1):59-64. PubMed PMID: 23407077.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Nectinopathies: an emerging group of ectodermal dysplasia syndromes. AU - Brancati,F, AU - Agolini,E, AU - Fortugno,P, PY - 2013/2/15/entrez PY - 2013/2/15/pubmed PY - 2013/7/9/medline SP - 59 EP - 64 JF - Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia JO - G Ital Dermatol Venereol VL - 148 IS - 1 N2 - Cleft Lip/Palate-Ectodermal Dysplasia and Ectodermal Dysplasia-Syndactyly Syndrome are rare congenital disorders caused by recessive mutations in the PVRL1 and PVRL4 genes, respectively. These genes encode nectins 1 and 4, an emerging class of molecules acting in cooperation with cadherins to form cell-cell adhesion especially at adherens junctions. Their role in skin, hair and teeth biology and in the fine-tuning morphogenesis of craniofacial (lip/palate) and limbs is yet to be outlined prompting future research. We propose refer to these entities (nectin 1-ED and nectin 4-ED) as "nectinopathies", which are likely to be underestimated/underdiagnosed ED syndomes. SN - 0392-0488 UR - https://wwww.unboundmedicine.com/medline/citation/23407077/Nectinopathies:_an_emerging_group_of_ectodermal_dysplasia_syndromes_ L2 - http://www.minervamedica.it/index2.t?show=R23Y2013N01A0059 DB - PRIME DP - Unbound Medicine ER -