Docteur Stéphane HILLIQUIN

Thèses universitaires

• Étude des conséquences fonctionnelles d'une mutation ponctuelle du gène EXTL3 : rôle dans l'ossification enchondrale

  2023

  Study of the functional consequences of a point mutation in the EXTL3 gene : role in endochondral ossification

  Immunologie🎓 Université Paris Cité

  Direction : Corinne Miceli-Richard

Source : catalogue national des thèses theses.fr (ABES). Ne couvre que les doctorats / HDR — les thèses d'exercice (DES) sont archivées dans les SCD universitaires.

Bibliographie

• A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia

  2021

  ArticleScience Advances

• AAV liver gene therapy-mediated inhibition of FGF23 signaling as a therapeutic strategy for X-linked hypophosphatemia

  2021

  ArticleEndocrine Abstracts

• Ability of Disease-Modifying Antirheumatic Drugs to Prevent or Delay Rheumatoid Arthritis Onset: A Systematic Literature Review and Meta-Analysis

  2018

  ArticleAnnals of the Rheumatic Diseases

Source : HAL — archive ouverte CCSD/CNRS (couvre articles, chapitres EMC, communications congrès, thèses).

Livres & ouvrages

• 📕

  Variation du taux d'anticorps anti-peptides citrullinés après traitement par biothérapie chez des patients suivis pour une polyarthrite rhumatoïde : revue systématique de la littérature et étude rétrospective

  20210

Source : Google Books — filtre catégories médicales/santé/sciences.

Lieu de consultation

• GHU APHP CUP SITE COCHIN PORT ROYAL

  27 Rue DU FAUBOURG SAINT JACQUES, 75679 Paris 14e Arrondissement

  ☎ 0158414141Hospitalier🏥 Voir cet établissement

Tarifs & secteur de conventionnement

Secteur de conventionnement non disponible (médecin hospitalier ou non présent dans l'Annuaire santé CNAM des libéraux conventionnés).

Prendre rendez-vous & contact

Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).

Top publications · les plus citées

• 1

  Ability of disease-modifying antirheumatic drugs to prevent or delay rheumatoid arthritis onset: a systematic literature review and meta-analysis

  Annals of the rheumatic diseases · 2018

  📚 24 citations🎯 RCR 1.06🔓 Open Access
• 2

  Impact of Early Conventional Treatment on Adult Bone and Joints in a Murine Model of X-Linked Hypophosphatemia

  Frontiers in cell and developmental biology · 2020

  📚 12 citations🎯 RCR 1.18🔓 Open Access📄 PDF gratuit ↗

  Lire l'abstract Crossref ↓

  X-linked hypophosphatemia (XLH) is the most common form of genetic rickets. Mainly diagnosed during childhood because of growth retardation and deformities of the lower limbs, the disease affects adults with early enthesopathies and joint structural damage that significantly alter patient quality of life. The conventional treatment, based on phosphorus supplementation and active vitamin D analogs, is commonly administered from early childhood to the end of growth; unfortunately, it does not allow complete recovery from skeletal damage. Despite adequate treatment during childhood, bone and joint complications occur in adults and become a dominant feature in the natural history of the disease. Our previous data showed that the Hyp mouse is a relevant model of XLH for studying early enthesophytes and joint structural damage. Here, we studied the effect of conventional treatment on the development of bone and joint alterations in this mouse model during growth and young adulthood. Mice were supplemented with oral phosphorus and calcitriol injections, following two timelines: (i) from weaning to 3 months of age and (ii) from 2 to 3 months to evaluate the effects of treatment on the development of early enthesophytes and joint alterations, and on changes in bone and joint deformities already present, respectively. We showed that early conventional treatment improved bone microarchitecture, and partially prevented bone and joint complications, but with no noticeable improvement in enthesophytes. In contrast, later administration had limited efficacy in ameliorating bone and joint alterations. Despite the improvement in bone microarchitecture, the conventional treatment, early or late, had no effect on osteoid accumulation. Our data underline the usefulness of the Hyp murine model for preclinical studies on skeletal and extraskeletal lesions. Although the early conventional treatment is important for the improvement of bone microarchitecture, the persistence of osteomalacia implies seeking new therapeutic strategies, in particular anti-FGF23 approach, in order to optimize the treatment of XLH.

• 3

  A novel therapeutic strategy for skeletal disorders: Proof of concept of gene therapy for X-linked hypophosphatemia

  Science advances · 2021

  📚 8 citations🔓 Open Access

  Lire l'abstract Crossref ↓

  A new therapeutic approach for the treatment of a skeletal disorder with AAVs bypasses bone resistance to gene transfer.

Publications scientifiques (8) — classées par pathologie

Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).

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