A5027930960- dental development and anomalies
- Oral and Maxillofacial Pathology
- Bone and Dental Protein Studies
- Bone Tissue Engineering Materials
- Periodontal Regeneration and Treatments
- Cancer-related gene regulation
- Electrospun Nanofibers in Biomedical Applications
- Dental Trauma and Treatments
- Connective tissue disorders research
- Bone Tumor Diagnosis and Treatments
- Oral microbiology and periodontitis research
- Tissue Engineering and Regenerative Medicine
- Mesenchymal stem cell research
- Proteoglycans and glycosaminoglycans research
- Temporomandibular Joint Disorders
- Pediatric Pain Management Techniques
- Bone health and treatments
- linguistics and terminology studies
- Medical and Biological Sciences
- Health, Medicine and Society
- Dental Research and COVID-19
- Cleft Lip and Palate Research
- Heterotopic Ossification and Related Conditions
- Heparin-Induced Thrombocytopenia and Thrombosis
- Wnt/β-catenin signaling in development and cancer
Université de Strasbourg
2014-2024
Hôpitaux Universitaires de Strasbourg
2013-2024
Regenerative NanoMedicine
2015-2022
Inserm
2008-2021
Hôpital Civil, Strasbourg
2013-2021
Hôpital Necker-Enfants Malades
2008-2019
Centre National de la Recherche Scientifique
2017
Immuno-Rhumathologie moléculaire
2017
Biomatériaux et Bioingénierie
2010
Université Paris Cité
2008
Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth, hair. Three disease-causing genes have been hitherto identified, namely, (1) EDA1 accounting for X-linked forms, (2) EDAR, (3) EDARADD, causing both autosomal dominant recessive forms. Recently, WNT10A gene was identified as responsible various forms dysplasias, including onycho-odonto-dermal (OODD) Schöpf-Schulz-Passarge syndrome. We...
<h3>Background</h3> Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number genes implicated these disorders, establishing molecular diagnosis be challenging. We aimed develop targeted next-generation sequencing (NGS) assay diagnose mutations potentially identify novel mutated this group disorders. <h3>Methods</h3> designed an NGS gene panel targets 585 known candidate...
Abstract Background Hypophosphatasia (HP) is a rare inherited disorder characterized by wide spectrum of defects in mineralized tissues and caused deficiency the tissue non-specific alkaline phosphatase gene ( ALPL ). The symptoms are highly variable their clinical expression, relate to numerous mutations this gene. first sign disease often premature loss deciduous teeth, mostly moderate forms. Aim purpose study was document oral features HP patients theses six recognized forms 5 with known...
<b><i>Background/Aims:</i></b> Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity movement of this ion. Disruption these in kidney results nephrocalcinosis nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. <b><i>Methods:</i></b> We investigated 25 patients from 16 families with unexplained characteristic dental defects (amelogenesis imperfecta,...
Dental anomalies occur frequently in a number of genetic disorders and act as major signs diagnosing these disorders. We present definitions the most common dental propose classification usable diagnostic tool by dentists, clinical geneticists, other health care providers. The are part series Elements Morphology have been established after careful discussions within an international group experienced dentists geneticists. system was elaborated French collaborative network "TÊTECOU"...
Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three them consanguineous, with an identical phenotype, characterized by significant short stature brachyolmia hypoplastic amelogenesis imperfecta (AI) almost absent enamel. This phenotype was first described in 1996 Verloes et al. as autosomal recessive form associated AI. Whole-exome sequencing resulted the identification hypomorphic mutations including...
Primary failure of eruption (PFE) is a rare non-syndromic condition involving total or partial non-eruption posterior teeth, in the absence mechanical obstruction. This paper presents case healthy girl referred at age 4 years for asymmetry upper arch. Clinical examination confirmed slight shift midline to left, with no erupted teeth distal left canine and open bite. Panoramic X-ray showed delayed intra-osseous development lateral compared right side. Clinic radiographic follow-up during next...
Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj‐Rabia S, Bodemer C, Manière Schmittbuhl M. X‐linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic‐dental phenotypic findings. ectodermal dysplasia (HED) is characterized by abnormal development of structures its molecular etiology corresponds to mutations EDA‐EDAR genes. The aim this study was first investigate the genotype dental phenotype associated with HED second, explore...
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, mutations are responsible for ectodermal‐derived pathologies including isolated hypo‐oligodontia, tricho‐odonto‐onycho‐dermal dysplasia Schöpf‐Schulz‐Passarge syndrome ( SSPS ). Here we describe dental, ectodermal, extra‐ectodermal phenotypic features cohort 41 patients from 32...
Abstract Secreted extracellular matrix components which regulate craniofacial development could be reactivated and play roles in adult wound healing. We report a patient with loss-of-function of the secreted matricellular protein SMOC2 (SPARC related modular calcium binding 2) presenting severe oligodontia, microdontia, tooth root deficiencies, alveolar bone hypoplasia, range skeletal malformations. Turning to mouse model, Smoc2-GFP reporter expression indicates dynamically marks dental...
Mutations of the Eda gene, which encodes for ectodys-plasin-A1, result in X-linked hypohydrotic ectodermal dysplasia (XLHED). This pathology may lead to severe oligodontia, subsequently requiring implant therapy. Since is suspected participate bone development, jaw status was investigated XLHED patients order adjust surgical protocol. Using computed tomography, densitometric profiles and 3D reconstructions, structure analyzed compared that control individuals; our results showed...
TWIST and adenomatosis polyposis coli (APC) are critical signaling factors in normal bone development. In previous studies examining a homogeneously treated cohort of pediatric osteosarcoma patients, we reported the frequent concurrent loss both APC genes. On these bases, created related animal model to further explore oncogenic cooperation between two We performed intercrosses twist-null/+ Apc1638N/+ mice studied their progeny. The Apc1638N/+;twistnull/+ developed abnormalities observed by...
Designing unique nanostructured biomimetic materials is a new challenge in modern regenerative medicine. In order to develop functional substitutes for damaged organs or tissues, several methods have been used create implants able regenerate ro
Abstract Rheumatoid arthritis (RA) is an autoimmune disease affecting 1% of the world population and characterized by chronic inflammation joints sometimes accompanied extra-articular manifestations. K/BxN mice, originally described in 1996 as a model polyarthritis, exhibit knee joint alterations. The aim this study was to describe temporomandibular (TMJ) damage these mice. We used relevant imaging modalities, such micro-magnetic resonance (μMRI) micro-computed tomography (μCT), well...
Oral Diseases (2010) 16 , 292–298 Objective: The aim of this study was to provide a quantification taurodontism in Hypohidrotic Ectodermal Dysplasia (HED) and report its occurrence cohort HED patients assess phenotypic–genotypic correlations. Patients methods: Of 68 retrospectively reviewed, aged 7–51 years were selected compared with control sample ( n = 351). pulp surface index the first lower permanent molar calculated from panoramic radiograph each individual, statistical comparisons...
Oral diseases have an impact on the general condition and quality of life patients. After a dento-alveolar trauma, tooth extraction, or, in case some genetic skeletal diseases, maxillary bone defect, can be observed, leading to impossibility placing dental implant for restoration masticatory function. Recently, neoformation was demonstrated after vivo implantation polycaprolactone (PCL) biomembranes functionalized with morphogenic protein 2 (BMP-2) ibuprofen mouse lesion. In present study,...