Life Sciences Commons^™

Decoding Emt Heterogeneity In Pancreatic Cancer, John David Slowikowski, Julienne L. Carstens

Expo Student Presentations

2025 Summer Expo Poster Presentation

• Biological & Life Sciences
• Works in Progress

Investigating The Role Of Msbdnf – Trkb Signaling In The Maintenance Of Mitochondrial Populations Through The Bnip3 Mitophagy Pathway, Jack A. Horton

All NMU Master's Theses

Maintenance of mitochondrial transport and clearance at the pre- and post-synaptic terminal is an essential function of neuromuscular junctions to meet their high energy demands. Damaged or dysfunctional mitochondria can put stress on these synaptic junctions, ultimately leading to the degradation of the synapse and subsequent cell death. Dysfunctional mitochondria are also often present in neuromuscular diseases such as ALS. One possible mechanism by which neurons may eliminate dysfunctional mitochondria is through the muscle-synthesized BDNF (msBDNF) /TrkB-mediated Bcl-2 nineteen-kD interacting protein (BNIP3) mitophagy pathway, although the relationship is not well-defined. BNIP3 localizes to the mitochondria and triggers a loss of …

Elucidating The Role Of Mir-10a/B In The Wound Healing Process In Larval Zebrafish, Jacquelyn E. Jacobs

All NMU Master's Theses

This study explores the regulatory role of microRNA-10 (miR-10) in larval zebrafish caudal fin regeneration, a model with broad implications for the future of regenerative medicine. Building on prior research from the lab, which indicated that miR-10 knockdown impairs regeneration, we verified this finding through rescue experiments, assessed its influence on healing projections, and examined its role in the innate immune response during the wound healing process. To address these questions, we employed a multi-faceted approach, including timed matings, microinjections, immunohistochemistry, fixed sample microscopy, and live imaging. Our results show that the experimental introduction of exogenous miR-10 can rescue the …

1080 Baiting Information For Pet Owners, Department Of Primary Industries And Regional Development, Western Australia

Biosecurity factsheets

A must for pest control, but a risk to domestic pets.

1080 is the brand name given to the chemical compound sodium monofluoroacetate. It is the synthetically produced sodium salt of fluoroacetate and produced as a white powder which is odorless and tasteless to humans. 1080 has been developed for incorporating into various bait formulations for the control of vertebrate pests including wild dogs, foxes, feral cats, and feral pigs.

Investigating The Threshold Of Opa1-Mediated Mitochondrial Fusion In Shsy5y Cells, Jorge Alberto Elizondo

Theses and Dissertations

Mitochondrial dynamics occurring under stress-induced conditions in SHSY5Y neuroblastoma cells provide insight into the OPA1-mediated mitochondrial fusion threshold in cells of varying energetic demands. Mitochondria are dynamic structures that are continuously balancing fusion and fission, depending on cellular needs. The ability to fuse and divide relies on the maintenance of the mitochondrial transmembrane potential. Stress-induced conditions in SHSY5Y cells were induced via utilization of carbonyl cyanide m-chlorophenylhydrazone (CCCP), a protonophore that disrupts the transmembrane potential. OMA1 protein reacts to the loss of transmembrane potential and subsequently cleaves the fusion-active isoforms of OPA1, L-OPA1. This causes an accumulation of S-OPA1, the …

Foxo Factors’ Ability In Binding To And Inducing Tcf7 In Glioblastoma Cells, Stephanie Oyervides

Theses and Dissertations

Glioblastoma Multiforme (GBM) is an aggressive astrocytoma tumor type with a poor prognosis and limited immunotherapeutic options for those inflicted. Stem gene expression of this cancer indicates a direct relationship with the transcription factors, Forkhead box subfamily O (FOXO-1, -3 and - 4). These transcription factors are evolutionarily conserved, partially redundant. They are involved in diverse and fundamental biological processes such as cell survival, stem cell homeostasis, cell fate determination, cell cycle maintenance, metabolism, and apoptosis. Increasing evidence suggests interconnectivity between the WNT Pathway and FOXO transcription factors; however, the mechanism and full extent to which these interactions play a …

Oxytocin As A Possible Vegf Inhibitor For Treatment Of Diabetic Retinopathy, Daira Yepez

Theses and Dissertations

Diabetic retinopathy (DR) is a major complication of diabetes and a leading cause of vision loss largely driven by the overexpression of vascular endothelial growth factor (VEGF), which promotes neovascularization and vascular permeability in the retina. Current treatments, primarily anti-VEGF injections, inhibit the effects of VEGF once it has been secreted but can be ineffective in a certain subset of patients. Recent studies suggest that oxytocin (OXT), a neuropeptide mainly known for its roles in reproduction and social bonding, may downregulate VEGF expression. This study aimed to investigate whether OXT influences VEGF secretion in the human retinal pigment epithelial (RPE) …

Nantucket Eelgrass Management Plan, Kimberly Starbuck, Kristin Uiterwyk, Shannon Hogan

Urban Harbors Institute Publications

Eelgrass is a critical component of our coastal ecosystem, supporting marine biodiversity, improving water quality, and helping to stabilize the shoreline. This planning effort aims to support the long-term health and sustainability of eelgrass habitats in our local waters.

Eelgrass (Zostera marina L.) is a subtidal seagrass found on both the east and west coasts of North America. Over the last 40 years, eelgrass has declined worldwide as a result of increased turbidity, algal blooms, physical disturbances, disease, and a host of other stressors. Specifically, in Massachusetts, the eelgrass population has declined approximately 50% in the last 30 …

L-Quebrachitol Modulates The Anti-Convulsant Effects Of Carbamazepine Possibly Through Voltage-Gated Sodium Channel Blocking Mechanism In Chicks: In Vivo And In Silico Studies, Asifa Asrafi, Mohammad Aslam, Ali G. Alkhathami, Md. Sakib Hossain, Imam Hossen Rakib, Md. Sakib Al Hasan, Feroz Khan Nun, Md. Faisal Amin, Muhammad Torequl Islam

School of Integrative Biological & Chemical Sciences Faculty Publications

Introduction: L-Quebrachitol (LQB), a naturally occurring bioactive compound, exhibits anti-inflammatory, anti-oxidant, anti-cancer, and anti-diabetic properties. However, its therapeutic potential in convulsant management remains largely unexplored. The objective of this study was to investigate the anticonvulsant effects of LQB in an In Vivo model and to examine its molecular interactions via In Silico docking simulations.

Methods: In the In Vivo study, pentylenetetrazol (PTZ) was administered intraperitoneally (i.p.) at 80 mg/kg to induce convulsions, and the test animals were treated orally with three doses of LQB (1, 5, and 10 mg/kg), with carbamazepine (CBZ) at 80 mg/kg as a standard drug.

Results: …

Investigating The Role Of Metallothioneins In Fungal Iron Homeostasis, David Eap

Theses and Dissertations

The pathogenic fungi Aspergillus fumigatus requires metals to survive and infect humans, but metal overload can be detrimental. Metallothioneins (MTs) are small, cysteine-rich proteins that alleviate metal toxicity by binding excess metals (typically Zn or Cu) for storage or delivery. A recent report indicates that the Fe-S cluster binding glutaredoxin GrxD and the putative Cu-MT CmtA were interacting under high iron conditions in A. fumigatus. We hypothesize that this MT may have a role in binding iron or Fe-S clusters under iron overload conditions to prevent iron toxicity. We also aim to characterize this new MT by determining its …

Circannual And Kinship Cues Shape Reproduction And Epigenetic Aging In Peromyscus, Kim Tuyen Huynh Dam

Theses and Dissertations

Evolutionary success is defined by the ability of a species to adapt and survive across many generations. This success is not determined by any single attribute but rather includes the entrenched, complex system that could be associated with biological rhythms, reproductive strategies, and regulations of epigenetic and genetic components. By using closed Peromyscus colonies as a model and by coupling mathematical modeling, analyses of breeding records, epigenetic studies, and in vitro and in vivo experiments, this dissertation aims to discover how Peromyscus adjusts to the internal and external pressures to ensure their survival and preserve evolutionary fitness in controlled environments. …

Exploring The Ancestry And Mutational Signatures Of Free-Breeding Dogs From Chernobyl And The Galápagos Islands, Gabriella Jean Spatola

Theses and Dissertations

Two free-breeding dog populations, one in Chernobyl, Ukraine, and the other on the Galápagos Islands, Ecuador, exist on opposite sides of the globe, yet both hold unique scientific potential to further our understanding of free-breeding dog population dynamics and evolutionary processes related to their environments. In the following studies, blood samples from more than 400 individual Chernobyl dogs were collected and their genomes were analyzed alongside over 1500 purebred and 200 global free-breeding dogs, describing genetic relationships and the extent of admixture with purebred migrants. Importantly, the sampled Chernobyl dogs had long-term exposures to ionizing radiation because of the 1986 …

Hybrid Penstemon Flowers: Colors, Pigments, And Detectability & Experimental Teaching: Evaluating The Impact Of Active Learning, Josh Thomas Edward Stevens

Theses and Dissertations

Shifts to different primary pollinators are often accompanied by changes in suites of floral traits. Understanding how and why these floral adaptations evolve is a central goal in evolutionary biology. Within the genus Penstemon, the transition from bee-pollinated to hummingbird-pollinated flowers is a common evolutionary pattern. These pollinator shifts have caused several closely related species to exhibit distinct pollination syndromes. One example of this evolutionary phenomenon can be seen within the sister species P. eatonii (hummingbird-pollinated) and P. laevis (bee-pollinated). These two species form several hybrid zones, in which hybrid individuals exhibit colors resembling both parental species, along with a …

Investigating The Immunomodulatory Effects Of Cdk8/19 Inhibitor Senexin631 In A Her2-Positive Breast Cancer Model, Stephen O'Rourke

Theses and Dissertations

HER2-positive (HER2⁺) breast cancer is aggressive and often develops resistance to anti-HER2 therapies. CDK8 and CDK19, transcription-associated cyclin-dependent kinases (tCDKs) in the Mediator complex, are dysregulated in HER2⁺ breast cancer, correlate with poor survival, and support transcriptional escape driving therapeutic resistance. Previous studies Previous studies in immune-deficient models demonstrated that CDK8/19 inhibition (CDK8/19i) reduces pro-tumor macrophages (M2Φs), but its role in immune-competent tumors and innate immune–mediated tumor control remains unclear. Since HER2⁺ tumors are often immunogenic and anti-HER2 therapies rely on innate immune activation, reprogramming immunosuppressive M2Φ toward an M1Φ-like phenotype could enhance antitumor immunity. We hypothesized that CDK8/19i modulates …

Novel Approaches To Combat Neuro-Degradation: Investigations Of Two Supplemental Strategies Aimed At Improving Warfighter Performance, Blaine Lints

Theses and Dissertations

This dissertation examines the efficacy of two distinct nutritional supplementation strategies for improving physical and/or cognitive performance under stress. The first study investigated the effects of 150 mg caffeine plus 150 mg theacrine ingestion in tactically trained individuals. Results indicated that the combination of caffeine and theacrine was associated with significant improvements in reaction time, accuracy, and measures of ocular control following high-intensity interval (HII) exercise. The HII exercise protocol consisted of ten repetitions of 60s high-intensity intervals (≥90% maximal oxygen uptake [VO_2max]) followed by 120s low-intensity intervals (~40% VO_2max) on a treadmill. These benefits were …

Investigating Mechanisms And Day-Level Factors That Influence Children’S 24-Hour Movement Behaviors, Hannah Parker

Theses and Dissertations

Twenty-four hour movement behaviors (i.e., physical activity (PA), screen time (ST), and sleep) are associated with health outcomes, chronic disease (obesity, type 2 diabetes), and mortality. Most literature evaluating children’s 24-hour movement behaviors has focused on static person-level demographic information such as age or biological sex. Relatively less work has examined the variable factors that change day to day, such as environment or context. The Structured Days Hypothesis (SDH) suggests that when children are in structured environments, they have healthier movement behaviors compared to less structured environments where children have more discretionary time to engage in obesogenic behaviors. Besides school/childcare, …

Modeling The Interaction Between Pain And Movement: Insights From Brain Activation Patterns And Context-Dependent Emotion In Chronic Low Back Pain, Pradeep Kumar Sahu

Theses and Dissertations

In persons with chronic pain, fear or anxiety related to movement is a well-established model under the biopsychosocial framework that explains in part, the chronicity of symptoms commonly reported by individuals with chronic low back pain (cLBP). This dissertation aimed to further understand the link between the context-dependent emotion network in the brain and movement in two separate studies using brain functional MRI and autonomic nervous system indices. Aim 1sought to investigate the brain functional connectivity linking brain regions involved in context-dependent emotion and movement while cLBP participants moved their back inside the scanner by performing a modified trunk bridging …

Lianas Reduce Tree Height With Negative Consequences For Carbon Storage And Growth Estimates, Xingyan Cao, Frieke Van Coillie, Sruthi M. Krishna Moorthy, Kasper Coppieters, Barbara D'Hont, Stefan A. Schnitzer, Geertje M. F. Van Der Heijden, Hans Verbeeck, Félicien Meunier

Biological Sciences Faculty Research and Publications

1. Current evidence suggests that liana (woody vine) competition with trees could be threatening the carbon sink by reducing carbon uptake and storage in tropical forests. Previous studies investigating forest demography in liana removal experiments have, however, assumed similar allometries for trees, regardless of the amount of lianas they support. Yet, recent observations suggest that liana load may alter tree shape and structure, including height, which could result in an underestimation of the liana effects on forest carbon stocks and tree growth.
2. In this study, we used terrestrial laser scanning (TLS) in a liana removal experiment in Gigante Peninsula, Panama, collected …

Teratogenic Effects Of Serotonin Receptor 2b Disruption On The Migration And Cardiac Derivatives Of The Cardiac Neural Crest, Brian K. Wells, Gwyneth K. Garramone, Amira Mahomed, Max Ezin

Biology Faculty Works

Background: Cardiac neural crest cells (cNCCs) are critical for heart development, and their disruption can result in congenital heart defects. Serotonin (5-HT) signaling, specifically via 5-HT2B and 5-HT2C receptors, regulates diverse physiological processes, including neural crest migration. This study investigates how modulation of 5-HT2B and 5-HT2C receptor activity impacts cNCC migration and the development of their derivatives, with relevance to serotonergic drug safety during pregnancy.

Methods

Chicken embryos at HH8 were treated with 50 μL of 20 μM 1-Methylpsilocin (1-MP), an inverse agonist of 5-HT2B and agonist of 5-HT2C, and collected at HH14 to assess cNCC migration. Embryos were pre-treated …

Reaction Control Mechanism In Deoxyuridine 5'-Triphosphate Nucleotidohydrolase, Aaron Delay

School of Biological Sciences: Dissertations, Theses, and Student Research

Deoxyuridine 5'-triphosphate nucleotidohydrolase (dUTPase) is an enzyme involved in the pyrimidine biosynthesis pathway, a key component of cellular DNA metabolism. It regulates intracellular uracil carrying triphosphate levels by hydrolyzing dUTP, thereby providing a substrate for thymidylate synthase (TS). The effective inhibition of dUTPase is expected to enhance TS-targeted chemotherapy by promoting thymine-less apoptosis.

Although the reaction mechanism of dUTPase has been studied, the human nuclear homotrimeric form remains complex, as all three subunits cooperatively form a single active site. As a result, the detailed molecular dynamics of its catalysis are still not fully understood. In this study, I investigated the …

Mammals Of Malheur National Wildlife Refuge And Surrounding Harney County, Oregon, John E. Cornely, Leslie N. Carraway

Monographs of the Western North American Naturalist

Malheur National Wildlife Refuge (NWR), located in southeastern Oregon, is part of the National Wildlife Refuge System (NWRS) of the United States. Currently, NWRS includes more than 568 NWRs, 38 Wetland Management Districts, and 5 Marine National Monuments. Malheur NWR, like a majority of the refuges in the NWRS, was established for the conservation of migratory birds. Many of these NWRs also provide significant habitat for mammals. Malheur NWR, one of the oldest (established 1908) and largest refuges in the system, is one of those with significant habitat for mammals. In addition to the refuge, we have included Harney County, …

Automated Mycoplasma Genitalium Molecular Macrolide Resistance Detection And Nucleic Acid Target Semi-Quantitation: Patient Demographic Considerations, Josephine Moore, Trinity Krueger, Amanda Zapp, Stephen C. Lavey, Kimber L. Munson, Irene A. Stafford, Michael E. Newcomb, Brian Mustanski, Erik Munson

Clinical Lab Sciences Faculty Research and Publications

Recent work has optimized parameters of a real-time reverse transcriptase PCR-based laboratory-developed test on the Panther Fusion system which detects Mycoplasma genitalium-specific macrolide resistance-associated mutations LDT (MRM-LDT) from primary swab and urine specimens. In this study, MRM-LDT was applied to a large multi-demographic study set to further characterize M. genitalium resistance in the United States. A total of 2,145 primary clinical specimens testing positive for M. genitalium 16S rRNA by transcription-mediated amplification (TMA) were initially titered by the same assay using serial 10-fold dilutions to determine relative target nucleic acid burden. Specimens were then processed for MRM-LDT. Findings were stratified …

Pollination And Essential Oil Production Of Lavandula Angustifolia Mill. (Lamiaceae), Riley B. Jackson, Tyler M. Wilson, Joseph S. Wilson, Zabrina Ruggles, Lindsey Topham Wilson, Chris Packer, Jacob G. Young, Christopher R. Bowerbank, Richard E. Carlson

Biology Faculty Publications

Lavandula angustifolia Mill., lavender, is an aromatic plant in the Lamiaceae family. Lavender, which is native to the Mediterranean region but cultivated throughout the world, is an important economic plant. Several studies have investigated two aspects of this aromatic plant: (1) which pollinators, particularly bees, pollinate lavender, and (2) the composition of lavender essential oil. However, little research has been conducted to investigate how pollination affects either the yield or phytochemistry of lavender. The current study, which was conducted in North America, investigates which bee species visit lavender and how pollination affects plant chemistry, specifically the essential oil produced by …

Meeting Report On An Integrated Research Agenda For Mosquito-Borne Arboviruses, Angela K. Ulrich, Nicolina M. Moua, Alison Mack, Natsuko Imai-Eaton, J. Erin Staples, Angela J. Mehr, Julia T. Ostrowsky, Tabitha Leighton, Ana Cehovin, Petra C. Fay, Josephine P. Golding, Emma Maynard, Luke Alphey, Diana P. Rojas Alvarez, Lark L. Coffey, Nuno R. Faria, Rafael Maciel-De-Freitas, Kevin Maringer, Kris A. Murray, Henrik Salje, Rosemary Sang, Pedro F.C. Vasconcelos, Yee Sin Leo, Steven P. Sinkins, Jocelyne Neto De Vasconcelos, Samuel K. Dadzie, Eva Harris, Thais H. Dos Santos, Raman Velayudhan

All Peer-Reviewed Publications

The emergence and re-emergence of mosquito-borne arbovirus (MBV) diseases pose a rapidly expanding global health threat fueled by the convergence of multiple ecologic, economic, and social factors, including climate change, land use, poverty, deficiencies of water storage and sanitation, and limitations of vector control programs. On December 6, 2023, the Wellcome Trust and the University of Minnesota's Center for Infectious Disease Research and Policy held a meeting titled "An integrated approach to mosquito-borne arboviruses: a priority research agenda."The meeting comprised presentations, panels, and facilitated discussions aimed at describing the state of the field, highlighting recent accomplishments, identifying novel strategies, and …

Heterogeneous Impacts For Malaria Control From Larviciding Across Villages And Considerations For Monitoring And Evaluation, Ellie Sherrard-Smith, Ulrike Fillinger, Jean Philippe B. Tia, Peter Winskill, Benjamin G. Koudou, Emile S.F. Tchicaya, Antoine Sanou, Fredros Okumu, Mercy Opiyo, Silas Majambere, Arran Hamlet, Giovanni Charles, Ben Lambert, Thomas S. Churcher

All Peer-Reviewed Publications

Malaria vector control tools currently focus on insecticide treated nets (ITNs) and indoor residual spraying in malaria-endemic locations, but additional preventative strategies are needed to address protection gaps. Larval source management (LSM) includes larvicide application to aquatic habitat and an array of alternative forms of environmental efforts. An individual-based transmission model for falciparum malaria is used to demonstrate the theoretical benefit of suppressing malaria adult mosquito vector densities through LSM. The model simulates results of epidemiological trials from Western Kenya (a hilly area with papyrus swamps adjacent to human settlements and moderate to high perennial malaria transmission) and Côte d’Ivoire …

Longitudinal Surveillance Of Aedes Aegypti (Diptera: Culicidae) In Urban Coastal Kenya: Population Dynamics, Blood Feeding Frequency And Dengue Virus Infection Rates, Josephine Osalla, Louis Clement Gouagna, Gilbert Rotich, Maureen Nzilani, Penina Safari, Kennedy Senagi, Francis Mutuku, Baldwyn Torto, David P. Tchouassi

All Peer-Reviewed Publications

The coastal region of Kenya has emerged as a focal point for urban dengue virus transmission driven by Aedes aegypti as the primary vector. To gain a deeper understanding of the epidemiological situation, we carried out a year-long longitudinal study (December 2021- November 2022) of the population dynamics of A. aegypti through weekly mosquito surveys using ovitrap and CO2-baited Biogents (BG) mosquito traps in Ukunda, an urban township in the coastal region. Aedes eggs laid in ovitraps were exclusively A. aegypti with 80.8% mean hatch rate. A total of 35,109 adult A. aegypti were captured, with twice as many females …

Bridging Cell Morphological Behaviors And Molecular Dynamics In Multi-Modal Spatial Omics With Morphlink, Jing Huang, Chenyang Yuan, Jiahui Jiang, Jianfeng Chen, Sunil S Badve, Yesim Gokmen-Polar, Rossana L Segura, Xinmiao Yan, Alexander Lazar, Jianjun Gao, Bing Yao, Michael Epstein, Linghua Wang, Jian Hu

Faculty, Staff and Student Publications

Multi-modal spatial omics data are invaluable for exploring complex cellular behaviors in diseases from both morphological and molecular perspectives. Current analytical methods primarily focus on clustering and classification, and do not adequately examine the relationship between cell morphology and molecular dynamics. Here, we present MorphLink, a framework designed to systematically identify disease-related morphological-molecular interplays. MorphLink has been evaluated across a wide array of datasets, showcasing its effectiveness in extracting and linking interpretable morphological features with various molecular measurements in spatial omics analyses. These linkages provide a transparent view of cellular behavior heterogeneity within tissue regions with similar cell type compositions, …

Heat Shock Induces Alternative Polyadenylation Through Dynamic Dna Methylation And Chromatin Looping, Emily E Fink, Yi Zhang, Briana Santo, Anwita Siddavatam, Rosie Ou, Vishal Nanavaty, Byron H Lee, Angela H Ting

Faculty, Staff and Student Publications

Alternative cleavage and polyadenylation (APA) is a gene regulatory mechanism used by cells under stress to upregulate proteostasis-promoting transcripts, but how cells achieve this remains poorly understood. Previously, we elucidated a DNA methylation-regulated APA mechanism, in which gene body DNA methylation enhances distal poly(A) isoform expression by blocking CCCTC-binding factor (CTCF) binding and chromatin loop formation at APA control regions. We hypothesized that DNA methylation-regulated APA is one mechanism cells employ to induce proteostasis-promoting poly(A) isoforms. At the DNAJB6 cochaperone locus, acute heat shock resulted in binding of stress response transcription factors heat shock factor 1, ATF6, and YY1 at …

Renal G Protein-Coupled Estrogen Receptor 1 Regulates The Epithelial Sodium Channel Promoting Natriuresis To A Greater Extent In Females, Victoria L Nasci, Jean C Bopassa, Elena Mironova, Megan Rhoads, Ravneet Singh, Dennis P Buehler, David M Pollock, Oleh M Pochynyuk, James D Stockand, Eman Y Gohar

Faculty, Staff and Student Publications

Hypertension prevalence is lower in women than men. Enhanced renal sodium (Na+) handling in females has been implicated in sex-differences in hypertension. Epithelial Na+ channel (ENaC) is a key contributor to Na+ homeostasis and is regulated by estrogen. Recent evidence suggests G protein-coupled estrogen receptor 1 (GPER1) evokes a female-specific natriuresis that involves endothelin-1 (ET-1). ET-1 has been shown to downregulate ENaC activity, but whether GPER1 regulates ENaC to modulate natriuresis is unknown. We tested the hypothesis that renal GPER1 functionally interacts with ENaC to promote natriuresis in a sex-specific manner. RNAscope confirmed co-expression of GPER1 and ENaC in rat …

Myh11 Rare Variant Augments Aortic Growth And Induces Cardiac Hypertrophy And Heart Failure With Pressure Overload, Zhen Zhou, Kgosi Hughes, Nisha Saif, Hyoseon Kim, Michael P Massett, Mingjie Zheng, Alana C Cecchi, Dongchuan Guo, David R Murdock, Ping Pan, Jelita S Clinton, Jun Wang, John M Greally, Dianna M Milewicz

Faculty, Staff and Student Publications

Smooth muscle cell-specific myosin heavy chain, encoded by MYH11, is selectively expressed in smooth muscle cells (SMCs). Pathogenic variants in MYH11 predispose to a number of disorders, including heritable thoracic aortic disease associated with patent ductus arteriosus, visceral myopathy, and megacystis-microcolon-intestinal hypoperistalsis syndrome. Rare variants of uncertain significance occur throughout the gene, including MYH11 p.Glu1892Asp, and we sought to determine if this variant causes thoracic aortic disease in mice. Genomic editing was used to generate Myh11E1892D/E1892D mice. Wild-type (WT) and mutant mice underwent cardiovascular phenotyping with and without transverse aortic constriction (TAC). Myh11E1892D/E1892D and WT mice displayed …