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Profil bibliographique

Sylvie Tissier

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

86Publications signalées
893Citations signalées
4Affiliations récentes

Les institutions déclarées

Les domaines associés

Cardiac Imaging and DiagnosticsCystic Fibrosis Research AdvancesCardiac Arrhythmias and TreatmentsAppendicitis Diagnosis and ManagementGastrointestinal disorders and treatments

Les publications récentes

Accès ouvert 2026 article OpenAlex

FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1 -associated primary ciliary dyskinesia

Lucie Thomas, Jacques Serizay, Rahma Mani, Sandrine Couvet et autres

Fluid mobilization on epithelia is ensured by the motile cilia of differentiated multiciliated cells (MCCs). Key transcriptional regulators of motile ciliogenesis include CCNO, MCIDAS, RFXs, and the transcription factor FOXJ1, whose precise role in humans remains unclear. We show that, unlike CCNO …

fr (code pays fourni par la source)

0 citations American Journal of Respiratory Cell and Molecular Biology
2024 article OpenAlex

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia

Lucie Thomas, Laurence Cuisset, Jean‐François Papon, Aline Tamalet et autres

Background Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked DNAAF6, which result in the absence of ciliary dynein arms, whereas their heterozygous mothers are supposedly …

fr (code pays fourni par la source)

6 citations Journal of Medical Genetics
Accès ouvert 2019 article OpenAlex

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

Rahma Mani, Sabrina Belkacem, Zohra Soua, Sandra Chantot‐Bastaraud et autres

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in …

fr, Tunisie (code pays fourni par la source)

25 citations Human Mutation

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