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The Role Of Fruitless P3 And P4 Transcripts In Drosophila Melanogaster, Sara A. Kulinski Feb 2024

The Role Of Fruitless P3 And P4 Transcripts In Drosophila Melanogaster, Sara A. Kulinski

Electronic Thesis and Dissertation Repository

The fruitless gene is highly conserved across many insect species, and its role in sex determination and sexual behaviour in Drosophila melanogaster males has been well characterized. The fruitless gene is alternatively spliced to produce at least 15 transcripts, but little is known about the alternative transcripts not involved in sexual traits. Transcripts beginning with the P3 and P4 first exons have previously been shown to be more heavily expressed during developmental stages of the D. melanogaster life cycle and have been implicated in developmental and fitness traits. Yet, these transcripts have never been assessed for their involvement in developmental …


Sufu In Shh Signalling Mediated Myogenesis, Suleyman Abdullah Dec 2023

Sufu In Shh Signalling Mediated Myogenesis, Suleyman Abdullah

Electronic Thesis and Dissertation Repository

Myogenesis is defined as the formation of skeletal muscle tissue during embryonic development and involves a multitude of cellular signalling pathways. Among these include the Sonic hedgehog (Shh) signalling pathway which must be deactivated for differentiation into muscle cells to occur. However, less is known regarding the pathways operation during cell differentiation and whether Suppressor of Fused (SUFU), the protein inhibitor of Shh signalling, plays a role. To address this, mouse C2C12 myoblast cells were utilized as a model and differentiated into muscle cells to identify the presence of SUFU during this time. Experiments in qRT-PCR show a decrease in …


Investigating Task-Free Functional Connectivity Patterns In Newborns Using Functional Near-Infrared Spectroscopy, Homa Vahidi Nov 2023

Investigating Task-Free Functional Connectivity Patterns In Newborns Using Functional Near-Infrared Spectroscopy, Homa Vahidi

Electronic Thesis and Dissertation Repository

Robust functional connectivity in sensorimotor resting-state network (RSN) has been linked to positive neurodevelopmental outcomes in neonates. In the current study, we aimed to map the developmental trajectory of sensorimotor RSN in awake neonates using functional near-infrared spectroscopy (fNIRS). We acquired fNIRS resting-state data from 41 healthy newborns (17 females, gestational age range=36+0 to 42+1 weeks) within the first 48 hours after birth. At the group level, we observed robust positive connectivity in numerous channel-pairs across the sensorimotor network, especially in the left hemisphere. Next, we examined the relationship between functional connectivity, gestational age and postnatal age, while controlling for …


Water-Fat Magnetic Resonance Imaging For The Assessment Of Human Fetal Adipose Tissue, Stephanie A. Giza Jul 2023

Water-Fat Magnetic Resonance Imaging For The Assessment Of Human Fetal Adipose Tissue, Stephanie A. Giza

Electronic Thesis and Dissertation Repository

Adipose tissue is crucial for providing heat and energy to infants, especially at transitions such as birth and therefore must begin developing in utero. This development may be altered due to an adverse uterine environment, increasing the risk of developing later-life metabolic diseases such as obesity. An early assessment of fetal adipose tissue development through lipid accumulation could be key to understanding metabolic programming and minimizing this risk.

Water-fat magnetic resonance imaging (MRI) can non-invasively measure the lipid concentration of tissues and can therefore monitor the development of adipose tissue via tissue lipid concentration. This work demonstrated the feasibility …


Just Following Up: My Experience As A Summer Student Administrator For Osler, Hoskin & Harcourt Llp, Bridget Leslie Apr 2023

Just Following Up: My Experience As A Summer Student Administrator For Osler, Hoskin & Harcourt Llp, Bridget Leslie

SASAH 4th Year Capstone and Other Projects: Publications

In this paper, I reflect on my experience as a Summer Student Administrator for Osler, Hoskin & Harcourt LLP where I acquired skills such as proficiency in various software and data analysis as well as professional communication, confidence, and organization. I applied these skills daily to produce quality work, and I am still applying these skills to my academic and personal life almost a year later. The culminating experience of the summer was presenting my own data analysis to a group of executives, which helped me improve my presentation skills and foster confidence in my own abilities. In addition to …


Developmental Changes In Electrophysiological Properties Of Auditory Cortical Neurons In The Cntnap2 Knockout Rat, Rajkamalpreet S Mann, Brian L Allman, Susanne Schmid Apr 2023

Developmental Changes In Electrophysiological Properties Of Auditory Cortical Neurons In The Cntnap2 Knockout Rat, Rajkamalpreet S Mann, Brian L Allman, Susanne Schmid

Anatomy and Cell Biology Publications

Disruptions in the CNTNAP2 gene are known to cause language impairments and symptoms associated with autism spectrum disorder (ASD). Importantly, knocking out this gene in rodents results in ASD-like symptoms that include auditory processing deficits. This study used in vitro patch-clamp electrophysiology to examine developmental alterations in auditory cortex pyramidal neurons of Cntnap2-/- rats, hypothesizing that CNTNAP2 is essential for maintaining intrinsic neuronal properties and synaptic wiring in the developing auditory cortex. Whole cell patch-clamp recordings were conducted in wildtype and Cntnap2-/- littermates at three postnatal age ranges (P8-12, P18-21, and …


2023-1 The Macroeconomic Consequences Of Subsistence Self-Employment, Juan Herreno, Sergio Ocampo Jan 2023

2023-1 The Macroeconomic Consequences Of Subsistence Self-Employment, Juan Herreno, Sergio Ocampo

Department of Economics Research Reports

We evaluate the aggregate effects of expansions of credit supply in environments where subsistence self-employment is prevalent. We extend a standard macro development model to include unemployment risk, which becomes a key driver of selection into self-employment. The model is consistent with the joint distribution of earnings and occupations, the reaction of wages to labor demand shocks, and the small effects of expansions in the supply of microloans on the earnings of the self-employed. We find that the elasticity of aggregate output to expansions in credit supply is proportional to the elasticity of individual earnings. This proportionality arises due to …


Examining The Relationships Between Socio-Cognitive Factors And Neural Synchrony During Movie Watching Across Development, Kathleen M. Lyons Aug 2022

Examining The Relationships Between Socio-Cognitive Factors And Neural Synchrony During Movie Watching Across Development, Kathleen M. Lyons

Electronic Thesis and Dissertation Repository

While different cognitive abilities mature, the conscious experiences of children likely become richer and more elaborate. A challenge in investigating relationships between cognitive development and real-world experiences is having measures that assess naturalistic processing. Movie watching offers a solution, since following the plot of a film requires cognitive processes that are similar to real-world experiences. When different adults watch the same film, their brain activity begins to align (known as neural synchrony). The strength of this alignment has been shown to reflect the degree to which different individuals are having a similar experience of the movie. While this phenomenon has …


Sustainable Development Goals Within Canadian Universities, Kavanagh S.A Lambert Aug 2022

Sustainable Development Goals Within Canadian Universities, Kavanagh S.A Lambert

Undergraduate Student Research Internships Conference

The 17 Sustainable Development Goals (SDGs) were created for all countries by the United Nations in 2015 with the aim of transforming the world for the better. Each country is responsible for working towards achieving these SDGs. Within Canada, fifteen research universities known as the U-15 make up the majority of private-sector research and innovation. About 65% of these U-15 institutions have developed their own SDG report/plan, illustrating a high level of initiative and involvement when it comes to the SDGs. Research indicates that as countries continue to improve their efforts towards the SDGs, there will be a need for …


Developmental Differences In The Learning And Consolidation Of Linguistic Regularities, Sarah Berger Jul 2022

Developmental Differences In The Learning And Consolidation Of Linguistic Regularities, Sarah Berger

Electronic Thesis and Dissertation Repository

Relative to adults, children have a well-known advantage for learning linguistic regularities, which could be partially driven by their deeper sleep. To examine the relationship between consolidation and language learning across development, children and adults learned a novel article system with an implicit grammatical rule. Participants performed a judgment task on phrases containing the novel articles before and after a night of EEG-monitored sleep. We found that rule sensitivity emerged rapidly in children, whereas it did not emerge until the second session in adults. Children demonstrated better generalization of the rule than adults. Consolidation effects showed a developmental double dissociation, …


Dissolving Nature/Nurture: Development As Coupled Interaction, Derek E. Oswick May 2022

Dissolving Nature/Nurture: Development As Coupled Interaction, Derek E. Oswick

Electronic Thesis and Dissertation Repository

For many, the Nature/Nurture approach to development is a quaint figment of the past. We have moved on, one might think; everyone thinks that both categories are important for development, not merely one. The reality, however, is not so simple. In this dissertation, I argue that contemporary biology has not succeeded in getting out from under the shadow of Nature/Nurture, despite everyone being some sort of interactionist about development. The central aim of my project is to offer a form of developmental interactionism worth having, which succeeds in shedding the pernicious aspects of Nature/Nurture. I begin by giving an overview …


A Novel Mistranslating Trna Model In Drosophila Melanogaster Has Diverse, Sexually Dimorphic Effects, Joshua R. Isaacson, Matthew D. Berg, Brendan Charles, Jessica Jagiello, Judit Villén, Christopher J. Brandl, Amanda J. Moehring May 2022

A Novel Mistranslating Trna Model In Drosophila Melanogaster Has Diverse, Sexually Dimorphic Effects, Joshua R. Isaacson, Matthew D. Berg, Brendan Charles, Jessica Jagiello, Judit Villén, Christopher J. Brandl, Amanda J. Moehring

Neuroscience Institute Publications

Transfer RNAs (tRNAs) are the adaptor molecules required for reading the genetic code and producing proteins. Transfer RNA variants can lead to genome-wide mistranslation, the misincorporation of amino acids not specified by the standard genetic code into nascent proteins. While genome sequencing has identified putative mistranslating transfer RNA variants in human populations, little is known regarding how mistranslation affects multicellular organisms. Here, we create a multicellular model of mistranslation by integrating a serine transfer RNA variant that mistranslates serine for proline (tRNAUGG,G26ASer) into the Drosophila melanogaster genome. We confirm mistranslation via mass spectrometry and find that tRNAUGG,G26ASer misincorporates serine for …


Spatiotemporal Characterization Of The Prr12 Paralogues In Zebrafish, Renee Jeannine Resendes Feb 2022

Spatiotemporal Characterization Of The Prr12 Paralogues In Zebrafish, Renee Jeannine Resendes

Electronic Thesis and Dissertation Repository

Pathogenic variants in the human PRR12 (Proline Rich 12) gene are associated with PRR12-related Neuroocular Syndrome. However, little is known about the gene/protein function. The zebrafish was utilized to address this, as its attributes place it as a premier model to study genes involved in human development and disease. In situ hybridization and RT-PCR of embryos and larvae, and qRT-PCR of adult tissues revealed the spatial and temporal distributions of the prr12 paralogues: prr12a and prr12b. Both paralogues were detected from the maternal and zygotic transcriptomes in a global and diffuse expression pattern, and there was enrichment …


Mother-Child Similarity In Brain Morphology: A Comparison Of Structural Characteristics Of The Brain's Reading Network, Lynn V. Fehlbaum, Lien Peters, Plamina Dimanova, Margot Roell, Réka Borbás, Daniel Ansari, Nora M. Raschle Feb 2022

Mother-Child Similarity In Brain Morphology: A Comparison Of Structural Characteristics Of The Brain's Reading Network, Lynn V. Fehlbaum, Lien Peters, Plamina Dimanova, Margot Roell, Réka Borbás, Daniel Ansari, Nora M. Raschle

Paediatrics Publications

Background: Substantial evidence acknowledges the complex gene-environment interplay impacting brain development and learning. Intergenerational neuroimaging allows the assessment of familial transfer effects on brain structure, function and behavior by investigating neural similarity in caregiver-child dyads. Methods: Neural similarity in the human reading network was assessed through well-used measures of brain structure (i.e., surface area (SA), gyrification (lG), sulcal morphology, gray matter volume (GMV) and cortical thickness (CT)) in 69 mother-child dyads (children's age~11 y). Regions of interest for the reading network included left-hemispheric inferior frontal gyrus, inferior parietal lobe and fusiform gyrus. Mother-child similarity was quantified by correlation coefficients and …


Approaches To Examining The Role Of Auditory Evoked Potentials In Early Language Development, Alyssa Janes Jan 2022

Approaches To Examining The Role Of Auditory Evoked Potentials In Early Language Development, Alyssa Janes

Electronic Thesis and Dissertation Repository

Previous research has suggested a relationship between auditory evoked potentials (AEPs) and spoken language proficiency, but their interactions during the earliest stages of development are not well understood. AEP-Age, an index that estimates the maturity of a child’s AEP relative to same-aged peers, has been effective in investigating this relationship in school-aged children, but has yet to be applied to younger populations. This thesis includes two Stage 1 Manuscripts (Registered Reports) for future studies to (a) assess the utility of AEP-Age to predict chronological age and language ability in 18-48-month-old children, and (b) investigate the relationship between AEP-Age and …


Three Essays On Climate And Development, Samantha Goertz Aug 2021

Three Essays On Climate And Development, Samantha Goertz

Electronic Thesis and Dissertation Repository

My thesis studies the impact of weather shocks in developing countries. Each chapter of my thesis focuses on a different outcome variable that may be affected by weather shocks: migration, agricultural GDP, and education. The first two are analyzed in the context of Eastern Africa, with data from Kenya and Tanzania, and use data spanning several decades. The third studies a specific tropical storm in Guatemala using data for several years before and after the storm.

My first chapter addresses two questions: What is the inter-regional migration response to weather in Kenya and Tanzania? And does this response vary depending …


Bridging The Gap Between Muscle And Bone: Examining Tendon Identity And Development, Amel Sassi Aug 2021

Bridging The Gap Between Muscle And Bone: Examining Tendon Identity And Development, Amel Sassi

Undergraduate Student Research Internships Conference

Tendons are fibrous connective tissues that connect skeletal muscle to bone. Functioning primarily to facilitate locomotion, these tissues are rich with collagen and other minor collagens and proteoglycans. Nevertheless, with over 4000 tendons in the human body, the molecular pathways that define different tendons remain largely unknown. As such, the clear distinction between tendon identity, particularly at the genetic level has yet to be fully established. Similarly, molecular pathways involved in tendon developments remain to be fully elucidated. Despite the important role of tendons in motor coordination and posture, a number of areas in tendon development and identity have yet …


Validating An Observational Coding System For The Dominance Behavioural System (Dbs) In Childhood, Jennifer Mullen Jul 2021

Validating An Observational Coding System For The Dominance Behavioural System (Dbs) In Childhood, Jennifer Mullen

Electronic Thesis and Dissertation Repository

The dominance behavioural system (DBS) is a biologically based system that underpins individual differences in motivation for dominance and power. However, little is known about the DBS in childhood. In a pilot study aimed at developing a behavioural coding system for dominance, a key facet of the DBS, we collected and coded observational data from 58 children, assessed at ages 3 and 5-6. Between these ages, dominance was moderately stable, to a degree comparable to other early child temperament traits. Consistent with study hypotheses, boys were more dominant than girls, and dominance was negatively associated with children’s behavioural inhibition, effortful …


A Systematic Review Of Brainstem Contributions To Autism Spectrum Disorder, Ala Seif, Carly Shea, Susanne Schmid, Ryan A Stevenson Jan 2021

A Systematic Review Of Brainstem Contributions To Autism Spectrum Disorder, Ala Seif, Carly Shea, Susanne Schmid, Ryan A Stevenson

Anatomy and Cell Biology Publications

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects one in 66 children in Canada. The contributions of changes in the cortex and cerebellum to autism have been studied for decades. However, our understanding of brainstem contributions has only started to emerge more recently. Disruptions of sensory processing, startle response, sensory filtering, sensorimotor gating, multisensory integration and sleep are all features of ASD and are processes in which the brainstem is involved. In addition, preliminary research into brainstem contribution emphasizes the importance of the developmental timeline rather than just the mature brainstem. Therefore, the purpose of this systematic review …


Community Engaged Learning: Rwanda And Swim, Olivia Ezman Apr 2020

Community Engaged Learning: Rwanda And Swim, Olivia Ezman

SASAH 4th Year Capstone and Other Projects: Publications

The following paper deals with reflecting on two different community-engaged-learning experiences, offered through Western University, that I had the privilege of completing during my final year. The first experience was working for Centre Marembo, an NGO in Kigali, Rwanda that specializes in the rehabilitation and education of abused girls. The second was assisting in writing a compilation of biographical stories for Single Women in Motherhood, a local London organization that aims to help single mothers succeed. Throughout the paper, there is a strong focus on the concept of service-learning, experienced both abroad and here in Canada, and the different expectations …


The Conundrum Of Vanishing 'Gold' In The African Savannah, Eunice Annan-Aggrey Jan 2020

The Conundrum Of Vanishing 'Gold' In The African Savannah, Eunice Annan-Aggrey

Africa Western Collaborations Day 2020 Abstracts

No abstract provided.


Examining The Relationship Between Measures Of Autistic Traits And Neural Synchrony During Movies In Children With And Without Autism, K. M. Lyons, R. A. Stevenson, A. M. Owen, B. Stojanoski Jan 2020

Examining The Relationship Between Measures Of Autistic Traits And Neural Synchrony During Movies In Children With And Without Autism, K. M. Lyons, R. A. Stevenson, A. M. Owen, B. Stojanoski

Brain and Mind Institute Researchers' Publications

Children who have been diagnosed with autism spectrum disorder (ASD) often show a marked deficit in measures of social cognition. In autistic adults, measures of social cognition have been shown to relate to differences in brain synchronization (as measured by fMRI) when individuals are processing naturalistic stimuli, such as movies. However, whether children who differ in their degree of autistic traits, with or without a diagnosis of ASD, differ in their neural responses to movies has not yet been investigated. In the current study, neural synchrony, measured using fMRI, was examined in three groups of children aged 7 to 12, …


The Role Of Xenopus Laevis Reck In Ecm Remodeling And Tissue Patterning, Jessica Willson Nov 2019

The Role Of Xenopus Laevis Reck In Ecm Remodeling And Tissue Patterning, Jessica Willson

Electronic Thesis and Dissertation Repository

Proper cell-cell and cell-extracellular matrix (ECM) interactions are vital for cell migration and patterning of the vertebrate embryo. Matrix metalloproteinases (MMPs) and their inhibitors, reversion-inducing cysteine-rich proteins with Kazal motifs (RECK) and tissue inhibitors of metalloproteinases (TIMPs), are all differentially expressed during embryogenesis to regulate such ECM remodeling events and cell interactions. While TIMPs are a family of 4 secreted proteins that share overlapping substrate specificities of MMPs, RECK is unique in that it is a membrane-anchored MMP inhibitor that is embryonic lethal in mice. I used Xenopus laevis as a model organism to investigate the role of RECK as …


How Does The Brain Represent Digits? Investigating The Neural Correlates Of Symbolic Number Representation Using Fmri-Adaptation, Celia Goffin Oct 2019

How Does The Brain Represent Digits? Investigating The Neural Correlates Of Symbolic Number Representation Using Fmri-Adaptation, Celia Goffin

Electronic Thesis and Dissertation Repository

How does the brain represent numerical symbols (e.g., Arabic digits)? Activity in left parietal regions correlates with symbolic number processing. Research with functional resonance imaging adaptation (fMRI-A) indicates that the intraparietal sulcus (IPS) exhibits a rebound (increase in activation) effect when a repeatedly presented number is followed by a new number. Importantly, this rebound effect is modulated by numerical ratio as well as the difference between presented numbers (distance). This ratio-dependent rebound effect could reflect a link between symbolic numerical representation and an approximate number system (ANS). In this doctoral dissertation, fMRI-A is used to investigate mechanisms underlying symbolic number …


The Origins And Development Of Visual Categorization, Laura Cabral Jun 2019

The Origins And Development Of Visual Categorization, Laura Cabral

Electronic Thesis and Dissertation Repository

Forming categories is a core part of human cognition, allowing us to make quickly make inferences about our environment. This thesis investigated some of the major theoretical interpretations surrounding the neural basis of visual category development. In adults, there are category-selective regions (e.g. in ventral temporal cortex) and networks (which include regions outside traditional visual regions—e.g. the amygdala) that support visual categorization. While there has been extensive behavioural work investigating visual categorization in infants, the neural sequence of development remains poorly understood. Based on behavioral experiments, one view holds that infants are initially using subcortical structures to recognize faces. Indeed, …


Partial Characterization Of Putative Cyp86a Genes From Soybean, Trish Tully Mar 2019

Partial Characterization Of Putative Cyp86a Genes From Soybean, Trish Tully

Electronic Thesis and Dissertation Repository

Soybean (Glycine max [L.] Merr.) is a globally cultivated crop that is important to the sustainability of many industries. However, like all plants, optimal cultivation of soybean is threatened by detrimental environmental factors. For example, high yield of soybean is threatened by soil-borne pathogens like Phytophthora sojae. Resistance against P. sojae was previously positively correlated with aliphatic suberin deposition in soybean. As such, a deeper understanding of the biosynthesis of suberin may assist in engineering a resistant form of soybean, based on enhanced suberin content. In soybean, the ω-OH fatty acid monomers are predominant and most strongly correlated …


Developmental Trajectories For The Early Clinical Assessment Of Balance By Gross Motor Function Classification System Level For Children With Cerebral Palsy., Alyssa Laforme Fiss, Sarah Westcott Mccoy, Doreen Bartlett, Lisa Avery, Steven E Hanna, On Track Study Team Feb 2019

Developmental Trajectories For The Early Clinical Assessment Of Balance By Gross Motor Function Classification System Level For Children With Cerebral Palsy., Alyssa Laforme Fiss, Sarah Westcott Mccoy, Doreen Bartlett, Lisa Avery, Steven E Hanna, On Track Study Team

Physical Therapy Publications

Background: Children with cerebral palsy (CP) characteristically present with impairments in balance. Currently, the pattern and timing of the development of balance ability have not been described for children with CP of varying Gross Motor Function Classification System (GMFCS) levels.

Objective: The purpose of this study was to document longitudinal developmental trajectories in a measure of balance, the Early Clinical Assessment of Balance (ECAB) scores, along with age-specific reference percentiles and the amount of change typical over a 1-year period for children within different GMFCS levels.

Design: The design was a longitudinal cohort study.

Methods: Participants included 708 children with …


The Differentiation Of Smallholder Farming And Household Food Responsibilities In Northern Ghana, Siera Vercillo Nov 2018

The Differentiation Of Smallholder Farming And Household Food Responsibilities In Northern Ghana, Siera Vercillo

Electronic Thesis and Dissertation Repository

One of the most urgent problems facing sub-Saharan Africa is that many people lack access to safe, nutritious, and culturally appropriate food, particularly in semi-arid regions such as northern Ghana. An important indication of this problem within Ghana is that stunting rates due to prolonged undernourishment are significantly higher in the northern regions than in other parts of the country, despite claims of an overall increase in the availability of food. Broadly, this dissertation employs qualitative case study research in the Northern Region (interviews N=109 and 12 focus groups) to describe the changes in access to resources, roles and …


A Comprehensive Catalog Of Post-Translational Modifications Of Drosophila Melanogaster Hox Protein, Sex Combs Reduced, Anirban Banerjee Oct 2018

A Comprehensive Catalog Of Post-Translational Modifications Of Drosophila Melanogaster Hox Protein, Sex Combs Reduced, Anirban Banerjee

Electronic Thesis and Dissertation Repository

During formation of the anterior-posterior axis, Homeotic selector (HOX) proteins determine the identity of Drosophila body segments. HOX proteins are transcription factors that regulate gene expression during development. Besides a highly conserved DNA-binding homeodomain (HD), HOX proteins also contain functionally important, evolutionarily conserved small motifs. These short motifs found in HOX proteins may be Short Linear Motifs (SLiMs). SLiMs are proposed to be sites of phosphorylation and this may regulate the activity of HOX proteins. The primary aim of this work was to develop a comprehensive catalogue of the sites of phosphorylation and other post-translational modifications (PTMs) for Fushi tarazu …


Bicuspid Aortic Valve Formation: Nos3 Mutation Leads To Abnormal Lineage Patterning Of Neural Crest Cells And The Second Heart Field, Joshua C. Peterson, Mary Chughtai, Lambertus J. Wisse, Adriana C. Gittenberger-De Groot, Qingping Feng, Marie J.T.H. Goumans, J. Conny Vanmunsteren, Monique R.M. Jongbloed, Marco C. Deruiter Oct 2018

Bicuspid Aortic Valve Formation: Nos3 Mutation Leads To Abnormal Lineage Patterning Of Neural Crest Cells And The Second Heart Field, Joshua C. Peterson, Mary Chughtai, Lambertus J. Wisse, Adriana C. Gittenberger-De Groot, Qingping Feng, Marie J.T.H. Goumans, J. Conny Vanmunsteren, Monique R.M. Jongbloed, Marco C. Deruiter

Paediatrics Publications

The bicuspid aortic valve (BAV), a valve with two instead of three aortic leaflets, belongs to the most prevalent congenital heart diseases in the world, occurring in 0.5-2% of the general population. We aimed to understand how changes in early cellular contributions result in BAV formation and impact cardiovascular outflow tract development. Detailed 3D reconstructions, immunohistochemistry and morphometrics determined that, during valvulogenesis, the non-coronary leaflet separates from the parietal outflow tract cushion instead of originating from an intercalated cushion. Nos3−/− mice develop a BAV without a raphe as a result of incomplete separation of the parietal outflow tract cushion into …