ORCID Profile
0000-0001-5833-5813
Current Organisations
Université Paris Cité UFR d'Odontologie
,
INSERM
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Publisher: Springer Science and Business Media LLC
Date: 13-08-2014
Publisher: Public Library of Science (PLoS)
Date: 19-05-2016
Publisher: S. Karger AG
Date: 23-02-2013
DOI: 10.1159/000349989
Abstract: b i Background/Aims: /i /b Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. b i Methods: /i /b We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. b i Results: /i /b All patients had bi-allelic i FAM20A /i mutations segregating with the disease 20 different mutations were identified. b i Conclusions: /i /b This au-tosomal recessive disorder, also known as enamel renal syndrome, of i FAM20A /i causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all in iduals with biallelic i FAM20A /i mutations will eventually show nephrocalcinosis.
Publisher: Wiley
Date: 29-08-2019
DOI: 10.1002/AJMG.A.61316
Abstract: Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network "TÊTECOU" and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions.
Publisher: BMJ
Date: 26-10-2015
Publisher: Mary Ann Liebert Inc
Date: 12-2014
Publisher: Hindawi Limited
Date: 2016
DOI: 10.1155/2016/6261490
Abstract: Gingival stem cells (GSCs) are recently isolated multipotent cells. Their osteogenic capacity has been validated in vitro and may be transferred to human cell therapy for maxillary large bone defects, as they share a neural crest cell origin with jaw bone cells. RT-qPCR is a widely used technique to study gene expression and may help us to follow osteoblast differentiation of GSCs. For accurate results, the choice of reliable housekeeping genes (HKGs) is crucial. The aim of this study was to select the most reliable HKGs for GSCs study and their osteogenic differentiation (dGSCs). The analysis was performed with ten selected HKGs using four algorithms: Δ Ct comparative method, GeNorm, BestKeeper , and NormFinder . This study demonstrated that three HKGs, SDHA, ACTB , and B2M , were the most stable to study GSC, whereas TBP, SDHA , and ALAS1 were the most reliable to study dGSCs. The comparison to stem cells of mesenchymal origin (ASCs) showed that SDHA/HPRT1 were the most appropriate for ASCs study. The choice of suitable HKGs for GSCs is important as it gave access to an accurate analysis of osteogenic differentiation. It will allow further study of this interesting stem cells source for future human therapy.
Publisher: BMJ
Date: 2012
Location: France
No related grants have been discovered for Ariane Berdal.