A5023886356- Morphological variations and asymmetry
- Cell Image Analysis Techniques
- Bone Metabolism and Diseases
- Congenital heart defects research
- Genetic and phenotypic traits in livestock
- Forensic Anthropology and Bioarchaeology Studies
- Gene expression and cancer classification
- Pregnancy and preeclampsia studies
- Bone health and osteoporosis research
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Metabolomics and Mass Spectrometry Studies
- dental development and anomalies
- Craniofacial Disorders and Treatments
- Bat Biology and Ecology Studies
- Ophthalmology and Eye Disorders
- Genetic Associations and Epidemiology
- Advanced Vision and Imaging
- Axon Guidance and Neuronal Signaling
- Cleft Lip and Palate Research
- Anatomy and Medical Technology
- Hemispheric Asymmetry in Neuroscience
- Molecular Biology Techniques and Applications
- Biomedical Text Mining and Ontologies
- AI in cancer detection
KU Leuven
2024-2025
Alberta Children's Hospital
2019-2025
University of Calgary
2019-2025
Alberta Bone and Joint Health Institute
2019-2025
Universitair Ziekenhuis Leuven
2025
Abstract Placental abnormalities have been sporadically implicated as a source of developmental heart defects. Yet it remains unknown how often the placenta is at root congenital defects (CHDs), and what cellular mechanisms are that underpin this connection. Here, we selected three mouse mutant lines, Atp11a , Smg9 Ssr2 presented with placental in recent phenotyping screen, resulting embryonic lethality. To dissect phenotype causality, generated embryo- trophoblast-specific conditional...
Morphometric analysis of anatomical landmarks allows researchers to identify specific morphological differences between natural populations or experimental groups, but manually identifying is time-consuming. We compare and automatically generated adult mouse skull subsequent morphometric analyses elucidate how switching from manual automated landmarking will impact results for large (Mus musculus) samples (n = 1205) that represent a wide range 'normal' phenotypic variation (62 genotypes)....
The major milestones in mouse placental development are well described, but our understanding is limited to how the placenta can adapt damage or changes environment. By using stereology and expression of cell cycle markers, we found that grows under normal conditions not just by hyperplasia trophoblast cells also through extensive polyploidy hypertrophy. In response feeding a low protein diet mothers prior during pregnancy, mimic chronic malnutrition, this program was altered it influenced...
Morphogenesis requires highly coordinated, complex interactions between cellular processes: proliferation, migration, and apoptosis, along with physical tissue interactions. How these dynamics drive morphogenesis remains elusive. Three dimensional (3D) microscopic imaging holds great promise, generates elegant images, but generating even moderate through-put for quantified images is challenging many reasons. As a result, the association processes in 3D developing tissues has not been fully...
Abstract Genotype–phenotype (G-P) analyses for complex morphological traits typically utilize simple, predetermined anatomical measures or features derived via unsupervised dimension reduction techniques (e.g. principal component analysis (PCA) eigen-shapes). Despite the popularity of these approaches, they do not necessarily reveal axes phenotypic variation that are genetically relevant. Therefore, we introduce a framework to optimize phenotyping G-P analyses, such as genome-wide...
Human craniofacial shape is highly variable yet heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes a phenotypic spectrum and, using achondroplasia as an example, introduce syndrome-informed phenotyping approach to identify genomic loci associated achondroplasia-like facial variation in general population. We compare three-dimensional scans from 43 individuals and 8246 controls...
Bones in the vertebrate cranial base and limb skeleton grow by endochondral ossification, under control of growth plates. Mechanisms ossification are conserved across plates, which increases covariation size shape among bones, turn may lead to correlated changes skeletal traits not direct selection. We used micro-CT geometric morphometrics characterize cranium Longshanks mouse, was selectively bred for longer tibiae. show that skulls became longer, flatter, narrower a stepwise process....
Abstract Craniosynostosis is a common yet complex birth defect, characterized by premature fusion of the cranial sutures that can be syndromic or nonsyndromic. With over 180 associations, reaching genetic diagnoses and understanding variations in underlying cellular mechanisms remains challenge. Variants FGFR2 are highly associated with craniosynostosis warrant further investigation. Using missense mutation W290R , an effective mouse model Crouzon syndrome, craniofacial features were...
ABSTRACT Geometric morphometrics is the statistical analysis of landmark-based shape variation and its covariation with other variables. Over past two decades, gold standard landmark data acquisition has been manual detection by a single observer. This approach proven accurate reliable in small-scale investigations. However, big initiatives are increasingly common biology morphometrics. requires fast, automated, standardized collection. Image registration, or spatial alignment images,...
Complex morphological traits are the product of many genes with transient or lasting developmental effects that interact in anatomical context. Mouse models a key resource for disentangling such effects, because they offer myriad tools manipulating genome controlled environment. Unfortunately, phenotypic data often obtained using laboratory-specific protocols, resulting self-contained datasets difficult to relate one another larger scale analyses. To enable meta-analyses variation,...
Abstract Brain and skull tissues interact through molecular signalling mechanical forces during head development, leading to a strong correlation between the neurocranium external brain surface. Therefore, when tissue is unavailable, neurocranial endocasts are often used approximate size shape. Evolutionary changes in morphology may have resulted secondary morphology, but developmental genetic processes underlying this relationship not well understood. Using automated phenotyping methods, we...
Classification is a fundamental task in biology used to assign members class. While linear discriminant functions have long been effective, advances phenotypic data collection are yielding increasingly high-dimensional datasets with more classes, unequal class covariances, and non-linear distributions. Numerous studies deployed machine learning techniques classify such distributions, but they often restricted particular organism, limited set of algorithms, and/or specific classification...
Abstract Complex morphological traits are the product of many genes with transient or lasting developmental effects that interact in anatomical context. Mouse models a key resource for disentangling such effects, because they offer myriad tools manipulating genome controlled environment. Unfortunately, phenotypic data often obtained using laboratory-specific protocols, resulting self-contained datasets difficult to relate one another larger scale analyses. To enable meta-analyses variation,...
Morphogenesis requires highly coordinated, complex interactions between cellular processes: proliferation, migration, and apoptosis, along with physical tissue interactions. How these dynamics drive morphogenesis remains elusive. Three dimensional (3D) microscopic imaging poses great promise, generates elegant images. However, generating even moderate through-put quantified images is challenging for many reasons. As a result, the association processes in 3D developing tissues has not been...
Neuroimages are a valuable tool for studying brain morphology in experiments using animal models. Magnetic resonance imaging (MRI) has become the standard method soft tissues, although its low spatial resolution poses some limits small animals. Here, we describe protocol obtaining high-resolution three-dimensional (3D) information on mouse neonate brains and skulls micro-computed tomography (micro-CT). The includes those steps needed to dissect samples, stain scan brain, obtain morphometric...
Efnb1 +/− heterozygous mice phenocopy many craniofacial characteristics of craniofrontonasal syndrome (CFNS), a disorder caused by EFNB1 loss function mutations. Because ephrin‐B1 is expressed strongly throughout the developing telencephalon in mice, we hypothesized that hypertelorism (increased distance between eyes) could be secondary to early changes form underlying cerebral cortex. This stems from common expectation intramembranously ossified bones surrounding brain can accommodate...
Nitric Oxide Synthase Interacting Protein (NOSIP) is a E3 mono‐ubiquitin ligase that regulates the activity of protein phosphatase 2A. Deletion NOSIP leads to severe and variable malformations craniofacial complex. Our goal was use mutant mice understand mechanisms phenotypic variation. The phenotype an individual embryo product developmental trajectory it previously traversed. We propose this concept canalization essential for understanding etiology complex outcomes. have shown brain...
Abstract Bones in the vertebrate cranial base and limb skeleton grow by endochondral ossification, under control of growth plates. Mechanisms ossification are conserved across plates, which increases covariation size shape among bones, turn may lead to correlated changes skeletal traits not direct selection. We used micro-CT geometric morphometrics characterize cranium Longshanks mouse, was selectively bred for longer tibiae. show that skulls became longer, flatter, narrower a stepwise...