PXD028003

PXD028003 is an original dataset announced via ProteomeXchange.

Title	Pathogenesis of enamel-renal syndrome associated gingival fibromatosis: a proteomic approach
Description	The enamel renal syndrome (ERS) is a rare disorder featured by amelogenesis imperfecta, gingival fibromatosis and nephrocalcinosis. Gingival fibromatosis is a hallmark of the disease; it is characterized by the accumulation of a collagen-rich, dense connective tissue and of mineral deposits throughout the gingiva. ERS is caused by biallelic mutations in the FAM20A gene encoding a pseudokinase, likely acting as an allosteric activator of FAM20C, the Golgi casein kinase. How mutations in FAM20A may modify the gingival connective tissue homeostasis and cause fibromatosis is currently unknown. Conditioned media of gingival fibroblasts (GF) obtained from four unrelated ERS patients carrying distinct mutations and three control subjects were used. Secretomic analysis identified 109 dysregulated proteins whose abundance had increased (69 proteins) or decreased (40 proteins) at least 1.5-fold compared to control GF. Gene Ontology (GO) analysis revealed biological processes significantly over-represented or under-represented in the ERS GF. Proteins over-represented were mainly involved in extracellular matrix organization, collagen fibril assembly, and biomineralization whereas those under-represented were extracellular matrix-associated proteins. Accordingly, GO disease analysis indicated un significant enrichment of tumoral angiogenesis and fibrosis.
HostingRepository	PRIDE
AnnounceDate	2022-02-17
AnnouncementXML	Submission_2022-02-17_06:16:26.378.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Clement GUILLOU
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2021-08-18 02:31:20	ID requested
⏵ 1	2022-02-17 06:16:27	announced

Simancas Escorcia V, Guillou C, Abbad L, Derrien L, Rodrigues Rezende Costa C, Cannaya V, Benassarou M, Chatziantoniou C, Berdal A, Acevedo AC, Cases O, Cosette P, Kozyraki R, Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach. Front Endocrinol (Lausanne), 12():752568(2021) [pubmed]

submitter keyword: Pathogenesis of enamel-renal syndrome associated gingival fibromatosis: a proteomic approach

Kozyraki Renata
contact affiliation	Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Oral Molecular Pathophysiology, F-75006, France
contact email	renata.kozyraki@inserm.fr
lab head
Clement GUILLOU
contact affiliation	Normandie Université, PISSARO Proteomic Facility, Institute for Research and Innovation in Biomedicine (IRIB), F-76821 Mont-Saint-Aignan, France.
contact email	guillouclement@orange.Fr
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2022/02/PXD028003

PRIDE project URI

• PRIDE
  1. PXD028003
     1. Label: PRIDE project
     2. Name: Pathogenesis of enamel-renal syndrome associated gingival fibromatosis: a proteomic approach