A5044569718- Craniofacial Disorders and Treatments
- dental development and anomalies
- Cleft Lip and Palate Research
- Forensic Anthropology and Bioarchaeology Studies
- Morphological variations and asymmetry
- Pleistocene-Era Hominins and Archaeology
- Connective tissue disorders research
- Fibroblast Growth Factor Research
- Paleopathology and ancient diseases
- Dental Radiography and Imaging
- Primate Behavior and Ecology
- Marine animal studies overview
- Obstructive Sleep Apnea Research
- Nasal Surgery and Airway Studies
- Wildlife Ecology and Conservation
- Medical and Biological Sciences
- Medical Image Segmentation Techniques
- Ophthalmology and Eye Disorders
- Anatomy and Medical Technology
- Bone health and treatments
- Epigenetics and DNA Methylation
- Dental Trauma and Treatments
- Down syndrome and intellectual disability research
- Congenital Ear and Nasal Anomalies
- Hemispheric Asymmetry in Neuroscience
De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie
2016-2025
Université de Bordeaux
2005-2025
Ministère de la Culture
2018-2025
Centre National de la Recherche Scientifique
2004-2025
Hôpital Necker-Enfants Malades
2019
Pennsylvania State University
2010-2014
University of Pennsylvania
2011
Centre Hospitalier du Mans
2010
Innsbruck Medical University
2007
Université Toulouse III - Paul Sabatier
2007
Hypochondroplasia (HCH) is a mild dwarfism caused by missense mutations in fibroblast growth factor receptor 3 (FGFR3), with the majority of cases resulting from heterozygous p.Asn540Lys gain-of-function mutation. Here, we report generation and characterization first mouse model (Fgfr3Asn534Lys/+) HCH to our knowledge. Fgfr3Asn534Lys/+ mice exhibited progressive impairment synchondroses cranial base, defective formation foramen magnum. The appendicular axial skeletons were both severely...
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of on membranous ossification are unknown. Fgfr3Y367C/+ mice mimicking ACH craniofacial analysis patients with FGFR3-related craniosynostoses provide opportunity address this issue. Studying calvaria skull base, we observed abnormal cartilage premature fusion...
Down syndrome (DS), caused by trisomy 21, is associated with an increased risk of Alzheimer's disease (AD) and obstructive sleep apnea (OSA). Traditional diagnostic methods for AD OSA, like cerebrospinal fluid analysis polysomnography, are invasive challenging people DS. In this study, we assessed whether facial morphology could be used as a potential noninvasive biomarker these conditions in both DS the general population. We performed comprehensive 3D shape variation registering...
Premature closure of the sagittal suture occurs as an isolated (nonsyndromic) birth defect or a syndromic anomaly in combination with other congenital dysmorphologies. The genetic causes nonsyndromic craniosynostosis (NSC) remain unknown. Although variation dysmorphic (scaphocephaly) skull shape NSC cases has been acknowledged, this not quantitatively studied three-dimensionally (3D). We have analyzed computed tomography images 43 infants (aged 0.9-9 months) using anatomical landmarks and...
The fibroblast growth factor and receptor system (FGF/FGFR) mediates cell communication pattern formation in many tissue types (e.g., osseous, nervous, vascular). In those craniosynostosis syndromes caused by FGFR1-3 mutations, alteration of signaling the FGF/FGFR leads to dysmorphology skull, brain limbs, among other organs. Since this molecular pathway is widely expressed throughout head development, we explore whether how two specific mutations on Fgfr2 causing Apert syndrome humans...
Activating FGFR3 mutations in human result achondroplasia (ACH), the most frequent form of dwarfism, where cartilages are severely disturbed causing long bones, cranial base and vertebrae defects. Because mandibular development growth rely on that guide or directly participate to ossification process, we investigated impact shape, size position. By using CT scan imaging ACH children by analyzing Fgfr3Y367C/+ mice, a model ACH, show gain-of-function lead structural anomalies primary...
In this study, we compare root formation in a modern sample of living Portuguese children (n = 521), between 6 and 18 years age, with that similar known sex age child skeletons 114), who lived half century earlier, to assess secular change dental maturation.The roots seven developing permanent mandibular teeth were assessed for their maturation both samples. The median age-of-attainment stages was calculated using logistic regression compared the potential influence mortality bias...
Bilateral symmetry in vertebrates is imperfect and mild asymmetries are found normal growth development. However, abnormal development often characterized by strong asymmetries. Coronal craniosynostosis, defined here as consisting of premature suture closure a characteristic skull shape, complex trait. The fusion the coronal can occur unilaterally associated with asymmetry (anterior plagiocephaly) or bilaterally symmetric but brachycephalic skull. We investigated relationship between...
Crouzon syndrome with acanthosis nigricans (CAN, a rare type of craniosynostosis characterized by premature suture fusion and neurological impairments) has been linked to gain-of-function mutation (p.Ala391Glu) in fibroblast growth factor receptor 3 (FGFR3). To characterize the CAN mutation's impact on skull brain functions, we developed first mouse model (Fgfr3A385E/+) this syndrome. Surprisingly, Fgfr3A385E/+ mice did not exhibit but show severe memory impairments, structurally abnormal...
Background: Craniosynostosis is a condition that includes the premature fusion of one or multiple cranial sutures. Among various craniosynostosis forms, sagittal nonsyndromic most prevalent. Although different gene mutations have been identified in some syndromes, cause remains largely unknown. Methods: To screen for candidate genes craniosynostosis, authors sequenced DNA 93 patients from population-based study conducted Iowa and New York states. FGFR1-3 mutational hotspots entire TWIST1,...
Abstract Age estimation of nonadult skeletons from archaeological or forensic contexts has relied heavily on modern schedules dental formation developed samples children affluent populations. Although genetic factors have been considered to had the greatest influence population differences in development, increased interest placed role environmental influences, such as socioeconomic status and secular trends. This study evaluates quality (i.e., accuracy reliability) two Bayesian age methods...
Background fibroblast growth factor receptor (FGFR) ‐related craniosynostosis syndromes are caused by many different mutations within FGFR‐1, 2, 3, and certain FGFR associated with more than one clinical syndrome. These share coronal characteristic facial skeletal features, although Apert syndrome (AS) is characterized a dysmorphic skeleton relative to Crouzon (CS), Muenke (MS), or Pfeiffer syndromes. Methods Here we perform detailed three‐dimensional evaluation of shape in retrospective...
Neanderthal infants had a short and deep ribcage that was genetically determined able to sustain the high metabolism of their massive bodies.
Abstract Objectives Sexual dimorphism is an important biological factor underlying morphological variation in the human skeleton. Previous research found sex‐related differences static ribcage, with males having more horizontally oriented ribs and a wider lower ribcage than females. Furthermore, recent study kinematics of lungs, cranio‐caudal movements caudal part lungs accounting for most between sexes. However, these cannot be quantified skeletal so we do not know if observed are also...
ABSTRACT The zygomatic bone is derived evolutionarily from the orbital series. In most modern mammals forms a large part of face and usually serves as bridge that connects facial skeleton to neurocranium. Our aim provide information on contribution variation in midfacial protrusion using three samples; humans, domesticated dogs, monkeys. each case, midface heritable trait produced by one classes transmission: localized dysmorphology associated with single gene dysfunction, selective...
Midfacial morphology varies between hominoids, in particular great apes and humans for which the face is small retracted. The underlying developmental processes these morphological differences are still largely unknown. Here, we investigate cellular mechanism of maxillary development (bone modelling, BM), how potential changes this process may have shaped facial evolution. We analysed cross-sectional series gibbons, orangutans, gorillas, chimpanzees present-day ( n = 183). Individuals were...
The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion one or both sutures, remains largely unknown. We conducted the largest genome-wide association study (GWAS) cNCS followed replication, fine mapping, and functional validation most significant region using zebrafish animal model. GWAS identified six independent genome-wide-significant risk alleles, four on chromosome 7q21.3 SEM1–DLX5–DLX6 locus, their combination conferred...