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Article

Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.

Frontiers in endocrinology - 1 Jan 2021

Simancas Escorcia Victor, Guillou Clément, Abbad Lilia, Derrien Louise, Rodrigues Rezende Costa Claudio, Cannaya Vidjea, Benassarou Mourad, Chatziantoniou Christos, Berdal Ariane, Acevedo Ana Carolina, Cases Olivier, Cosette Pascal, Kozyraki Renata

Abstract excerpt

The enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis imperfecta, gingival fibromatosis and nephrocalcinosis. ERS is caused by bi-allelic mutations in the secretory pathway pseudokinase FAM20A. How mutations in FAM20A may modify the gingival connective tissue homeostasis and cause fibromatosis is currently unknown. We here analyzed conditioned media of gingival fibroblasts (GFs) obtained...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34777248
DOI: 10.3389/fendo.2021.752568
PMCID: PMC8586505

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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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