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2022

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Temples Everywhere, Hugh W. Nibley Oct 2022

Temples Everywhere, Hugh W. Nibley

Insights: The Newsletter of the Neal A. Maxwell Institute for Religious Scholarship

Those of us who saw the recent television documentary American Prophet: The Story of Joseph Smith may have noticed an interesting defect in the script, namely, that it was Hamlet with Hamlet left out. It was as if one were to produce the life of Shakespeare with charming views of Stratford-upon-Avon, country school, the poaching story, marriage to Anne Hatha-way, showbiz in London, and respectable retirement without bothering to mention that our leading character gave the world the greatest treasury of dramatic art in existence. Or a life of Bach with his niggardly brother-guardian, his early poverty, his odd jobs …


A Trichy Situation, Kathryn Purple Oct 2022

A Trichy Situation, Kathryn Purple

Cumberland Mountain Naturalist

This issue of the Cumberland Mountain Naturalist discusses Dr Kathryn Purple's research concerning Trichomonosis carried by pigeons.


The Chanticleer, 2022-10-06, Coastal Carolina University Oct 2022

The Chanticleer, 2022-10-06, Coastal Carolina University

The Chanticleer Student Newspaper

The editorially independent student produced weekly newspaper of Coastal Carolina University.


Issue 404: October 6-20, 2022, The Local Voice Oct 2022

Issue 404: October 6-20, 2022, The Local Voice

The Local Voice

No abstract provided.


Bird Species Define The Relationship Between West Nile Viremia And Infectiousness To Culex Pipiens Mosquitoes, Jefferson A. Vaughan, Robert Newman, Michael J. Turrell Oct 2022

Bird Species Define The Relationship Between West Nile Viremia And Infectiousness To Culex Pipiens Mosquitoes, Jefferson A. Vaughan, Robert Newman, Michael J. Turrell

Biology Faculty Publications

The transmission cycle of West Nile virus (WNV) involves multiple species of birds. The relative importance of various bird species to the overall transmission is often inferred from the level and duration of viremia that they experience upon infection. Reports utilizing in vitro feeding techniques suggest that the source and condition of blood in which arboviruses are fed to mosquitoes can significantly alter the infectiousness of arbovirus to mosquitoes. We confirmed this using live hosts. A series of mosquito feedings with Culex pipiens was conducted on WNV-infected American robins and common grackles over a range of viremias. Mosquitoes were assayed …


The Montclarion, October 06, 2022, The Montclarion Oct 2022

The Montclarion, October 06, 2022, The Montclarion

The Montclarion

Student Newspaper of Montclair State University


Low Levels Of Hybridization Between Domestic And Wild Mallards Wintering In The Lower Mississippi Flyway, J. Brian Davis, Diana C. Outlaw, Kevin M. Ringelman, Richard M. Kaminski, Philip Lavretsky Oct 2022

Low Levels Of Hybridization Between Domestic And Wild Mallards Wintering In The Lower Mississippi Flyway, J. Brian Davis, Diana C. Outlaw, Kevin M. Ringelman, Richard M. Kaminski, Philip Lavretsky

Faculty Publications

The Mallard (Anas platyrhynchos) duck is a ubiquitous and socio-economically important game bird in North America. Despite their generally abundant midcontinent population, Mallards in eastern North America are declining, which may be partially explained by extensive hybridization with human-released domestically derived game-farm Mallards. We investigated the genetic composition of Mallards in the middle and lower Mississippi flyway, key wintering regions for the species. We found that nearly 30% of wild Mallards carried mitochondrial (mtDNA) haplotypes derived from domestic Mallards present in North America, indicating that the individuals had female game-farm Mallard lineage in their past; however, nuclear results identified only …


Optimizing Self-Pollinated Crop Breeding Employing Genomic Selection: From Schemes To Updating Training Sets, Felipe Sabadin, Julio César Dovale, John Damien Platten, Roberto Fritsche-Neto Oct 2022

Optimizing Self-Pollinated Crop Breeding Employing Genomic Selection: From Schemes To Updating Training Sets, Felipe Sabadin, Julio César Dovale, John Damien Platten, Roberto Fritsche-Neto

Faculty Publications

Long-term breeding schemes using genomic selection (GS) can boost the response to selection per year. Although several studies have shown that GS delivers a higher response to selection, only a few analyze which stage GS produces better results and how to update the training population to maintain prediction accuracy. We used stochastic simulation to compare five GS breeding schemes in a self-pollinated long-term breeding program. Also, we evaluated four strategies, using distinct methods and sizes, to update the training set. Finally, regarding breeding schemes, we proposed a new approach using GS to select the best individuals in each F2 progeny, …


The Effect Of Infection Risk On Female Blood Transcriptomics, Brenna M. G. Gormally, Patricia C. Lopes Oct 2022

The Effect Of Infection Risk On Female Blood Transcriptomics, Brenna M. G. Gormally, Patricia C. Lopes

Biology, Chemistry, and Environmental Sciences Faculty Articles and Research

Defenses against pathogens can take on many forms. For instance, behavioral avoidance of diseased conspecifics is widely documented. Interactions with these infectious conspecifics can also, however, lead to physiological changes in uninfected animals, an effect that is much less well understood. These changes in behavior and physiology are particularly important to study in a reproductive context, where they can impact reproductive decisions and offspring quality. Here, we studied how an acute (3 h) exposure to an immune-challenged male affected female blood transcriptomics and behavior. We predicted that females paired with immune-challenged males would reduce eating and drinking behaviors (as avoidance …


Diagnosing The Present With An Ecotopian Lexicon, Chirag Giri, Adam Liebman Oct 2022

Diagnosing The Present With An Ecotopian Lexicon, Chirag Giri, Adam Liebman

Annual Student Research Poster Session

The book An Ecotopian Lexicon (2019) presents a collection of thirty terms and concepts from speculative fiction, anthropology, and the sociology of subcultures, each explored by a different author. The lexicon intends to address our collective “poverty of imagination” when it comes to avoiding global environmental collapse and building a different world, evidenced by the increasing dominance of apocalyptic narratives in popular culture. Although the book’s primary aim is to explore diverse concepts for imagining better futures, we have analyzed the form and content of the book for what they tell us about the present.


The Risk And Clinical Implications Of Antibiotic-Associated Acute Kidney Injury: A Review Of The Clinical Data For Agents With Signals From The Food And Drug Administration’S Adverse Event Reporting System (Faers) Database, Kalin M. Clifford, Ashley R. Selby, Kelly R. Reveles, Chengwen Teng, Ronald G. Hall Ii, Jamie Mccarrell, Carlos A. Alvarez Oct 2022

The Risk And Clinical Implications Of Antibiotic-Associated Acute Kidney Injury: A Review Of The Clinical Data For Agents With Signals From The Food And Drug Administration’S Adverse Event Reporting System (Faers) Database, Kalin M. Clifford, Ashley R. Selby, Kelly R. Reveles, Chengwen Teng, Ronald G. Hall Ii, Jamie Mccarrell, Carlos A. Alvarez

Faculty Publications

Antibiotic-associated acute kidney injury (AA-AKI) is quite common, especially among hospitalized patients; however, little is known about risk factors or mechanisms of why AA-AKI occurs. In this review, the authors have reviewed all available literature prior to 1 June 2022, with a large number of AKI reports. Information regarding risk factors of AA-AKI, mechanisms behind AA-AKI, and treatment/management principles to decrease AA-AKI risk were collected and reviewed. Patients treated in the inpatient setting are at increased risk of AA-AKI due to common risk factors: hypovolemia, concomitant use of other nephrotoxic medications, and exacerbation of comorbid conditions. Clinicians should attempt to …


Stem Facility Construction Nears Halfway Point, Erin Garrett Oct 2022

Stem Facility Construction Nears Halfway Point, Erin Garrett

University of Mississippi News

Largest academic building in university history to feature innovative lab spaces, TEAL classrooms


Novel Texture-Based Probabilistic Object Recognition And Tracking Techniques For Food Intake Analysis And Traffic Monitoring, Robert Jacob Dibiano Oct 2022

Novel Texture-Based Probabilistic Object Recognition And Tracking Techniques For Food Intake Analysis And Traffic Monitoring, Robert Jacob Dibiano

LSU Doctoral Dissertations

More complex image understanding algorithms are increasingly practical in a host of emerging applications. Object tracking has value in surveillance and data farming; and object recognition has applications in surveillance, data management, and industrial automation. In this work we introduce an object recognition application in automated nutritional intake analysis and a tracking application intended for surveillance in low quality videos. Automated food recognition is useful for personal health applications as well as nutritional studies used to improve public health or inform lawmakers. We introduce a complete, end-to-end system for automated food intake measurement. Images taken by a digital camera are …


Regulation Of Airway Smooth Muscle Cell Proliferation By Diacylglycerol Kinase: Relevance To Airway Remodeling In Asthma, Miguel Angel Hernandez-Lara, Santosh K Yadav, Sushrut D. Shah, Mariko Okumura, Yuichi Yokoyama, Raymond B. Penn,, Taku Kambayashi, Deepak A. Deshpande Oct 2022

Regulation Of Airway Smooth Muscle Cell Proliferation By Diacylglycerol Kinase: Relevance To Airway Remodeling In Asthma, Miguel Angel Hernandez-Lara, Santosh K Yadav, Sushrut D. Shah, Mariko Okumura, Yuichi Yokoyama, Raymond B. Penn,, Taku Kambayashi, Deepak A. Deshpande

Center for Translational Medicine Faculty Papers

Airway remodeling in asthma involves the hyperproliferation of airway smooth muscle (ASM) cells. However, the molecular signals that regulate ASM growth are not completely understood. Gq-coupled G protein-coupled receptor and receptor tyrosine kinase signaling regulate ASM cell proliferation via activation of phospholipase C, generation of inositol triphosphate (IP3) and diacylglycerol (DAG). Diacylglycerol kinase (DGK) converts DAG into phosphatidic acid (PA) and terminates DAG signaling while promoting PA-mediated signaling and function. Herein, we hypothesized that PA is a pro-mitogenic second messenger in ASM, and DGK inhibition reduces the conversion of DAG into PA resulting in inhibition of ASM cell proliferation. We …


Teaching The Scientific Method In Core Curricula Through Practical Lab Assignments, Graeme Gardner Oct 2022

Teaching The Scientific Method In Core Curricula Through Practical Lab Assignments, Graeme Gardner

Faculty and Staff Publications & Presentations

Most core curricula at liberal arts schools require a science component to their undergraduate education for non-science majors. It is possible to meet these requirements with modified forms of normal science classes. However, for many students these classes can be a monotonous throwaway more than meaningful learning. At Lynn University, the core classes in “Dialogues of Scientific Literacy” incorporate opportunities for students to learn the scientific process via simple lab exercises without burdensome prerequisites. In one iteration, we implement a 3-part lab series meant to take students from observation to hypothesis formulation, to experimental design. The starting point is a …


Reinforcement Practicality For Middle School Students: A Meta-Analysis, Kelly C. Dreger Ed.D., Steve Downey Ph.D. Oct 2022

Reinforcement Practicality For Middle School Students: A Meta-Analysis, Kelly C. Dreger Ed.D., Steve Downey Ph.D.

Journal of Inquiry and Action in Education

The need for evolving support interventions that can help students in a wide range of settings is an ongoing requirement for middle schools today. Token reinforcement, which is a form of extrinsic motivation and incentivization, is studied within this meta-analysis to determine if significant treatment effects exist overall and if there are studies that show more gains than others. Most studies report significant positive gains individually, but the statistical significance is lost when the studies are reviewed as a whole. Variables such as sample size requirements, treatment effect variation, and session time all influence treatment effect size. Reinforcement has been …


The Colby Echo (2022-10-06), Colby College Oct 2022

The Colby Echo (2022-10-06), Colby College

The Colby Echo

Published by the students of Colby College since 1877, The Colby Echo is the weekly, editorially independent student-run newspaper of Colby College in Waterville, Maine. Published monthly, 1877-1886; semi-monthly, 1886-1897; and weekly during the academic year, 1898-present.


The Genomic And Bulked Segregant Analysis Of Curcuma Alismatifolia Revealed Its Diverse Bract Pigmentation, Xuezhu Liao, Yuanjun Ye, Xiaoni Zhang, Dan Peng, Mengmeng Hou, Gaofei Fu, Jianjun Tan, Jianli Zhao, Rihong Jiang, Yechun Xu, Jinmei Liu, Jinliang Yang, Wusheng Liu, Luke R. Tembrock, Genfa Zhu, Zhiqiang Wu Oct 2022

The Genomic And Bulked Segregant Analysis Of Curcuma Alismatifolia Revealed Its Diverse Bract Pigmentation, Xuezhu Liao, Yuanjun Ye, Xiaoni Zhang, Dan Peng, Mengmeng Hou, Gaofei Fu, Jianjun Tan, Jianli Zhao, Rihong Jiang, Yechun Xu, Jinmei Liu, Jinliang Yang, Wusheng Liu, Luke R. Tembrock, Genfa Zhu, Zhiqiang Wu

Department of Agronomy and Horticulture: Faculty Publications

Compared with most flowers where the showy part comprises specialized leaves (petals) directly subtending the reproductive structures, most Zingiberaceae species produce showy ‘‘flowers’’ through modifications of leaves (bracts) subtending the true flowers throughout an inflorescence. Curcuma alismatifolia, belonging to the Zingiberaceae family, a plant species originating from Southeast Asia, has become increasingly popular in the flower market worldwide because of its varied and esthetically pleasing bracts produced in different cultivars. Here, we present the chromosome-scale genome assembly of C. alismatifolia ‘‘Chiang Mai Pink’’ and explore the underlying mechanisms of bract pigmentation. Comparative genomic analysis revealed C. alismatifolia contains a …


Engaging With Politics, Policy, & Policymaking: Opportunities And Challenges For Sigma Members Worldwide, Enrique Castro-Sanchez, Roya Haghiri-Vijeh, Brooke Newman, Michael J. Polacek Oct 2022

Engaging With Politics, Policy, & Policymaking: Opportunities And Challenges For Sigma Members Worldwide, Enrique Castro-Sanchez, Roya Haghiri-Vijeh, Brooke Newman, Michael J. Polacek

General Webinars

The webinar will explore the interests and skills of nurses in political decision-making and discuss opportunities to increase the minimal involvement of nurses in legislative policymaking and how to best foster more nurse engagement as policymakers, political stakeholders, and activists. The panel aims to dialogue with participants, providing education regarding the next steps and implications for practice improvement(s).


Roosts Of Northern Long-Eared Myotis (Myotis Septentrionalis) At The Western Edge Of The Great Plains, Brett R. Andersen, Keith Geluso Oct 2022

Roosts Of Northern Long-Eared Myotis (Myotis Septentrionalis) At The Western Edge Of The Great Plains, Brett R. Andersen, Keith Geluso

Western North American Naturalist

The northern long-eared myotis (Myotis septentrionalis) is a forest-obligate, tree-roosting bat of the United States and Canada. Most prior studies on roost characteristics were conducted in contiguous forested habitats of eastern North America, where roosting opportunities are potentially numerous. At the western end of its distribution in the Great Plains, M. septentrionalis inhabits narrow, forested riparian waterways. Because these ribbons of forest differ from habitats farther east, roost selection by M. septentrionalis at the western edge of its distribution might differ and affect management practices in the region. Moreover, M. septentrionalis is imperiled by a deadly fungal …


Molecular Pathways Of Major Depressive Disorder Converge On The Synapse, Gabriel R Fries, Valeria A Saldana, Johannes Finnstein, Theo Rein Oct 2022

Molecular Pathways Of Major Depressive Disorder Converge On The Synapse, Gabriel R Fries, Valeria A Saldana, Johannes Finnstein, Theo Rein

Faculty, Staff and Student Publications

Major depressive disorder (MDD) is a psychiatric disease of still poorly understood molecular etiology. Extensive studies at different molecular levels point to a high complexity of numerous interrelated pathways as the underpinnings of depression. Major systems under consideration include monoamines, stress, neurotrophins and neurogenesis, excitatory and inhibitory neurotransmission, mitochondrial dysfunction, (epi)genetics, inflammation, the opioid system, myelination, and the gut-brain axis, among others. This review aims at illustrating how these multiple signaling pathways and systems may interact to provide a more comprehensive view of MDD's neurobiology. In particular, considering the pattern of synaptic activity as the closest physical representation of mood, …


Vista: October 6, 2022, University Of San Diego Oct 2022

Vista: October 6, 2022, University Of San Diego

USD Vista (1965-)

No abstract provided.


Visualization For Better Learning In Chem 120, Ngoc (Valerie) Tran, Jeffrey A. Hansen Oct 2022

Visualization For Better Learning In Chem 120, Ngoc (Valerie) Tran, Jeffrey A. Hansen

Annual Student Research Poster Session

Many concepts in organic chemistry relate to spatial reasoning and the ability to translate two-dimensional representations into a three-dimensional mental image. It is critical that students gain a thorough understanding of visualizing atoms, orbitals and their interactions in three dimensions. By developing an E-book with computer graphics, 3D animations, H5P films, and online apps, we hope to enhance Depauw students' learning experiences in the CHEM 120 course. In this project, we would like to demonstrate 3D representations of chemical concepts to help students form these 3D mental images from a 2D surface. The process includes concept developing, storyboarding, 2D and …


Chemweb: A 2d Molecular Builder Game, Suleman Bashir Baloch, Jeffrey A. Hansen Oct 2022

Chemweb: A 2d Molecular Builder Game, Suleman Bashir Baloch, Jeffrey A. Hansen

Annual Student Research Poster Session

The research is based on the development of a 2D molecular builder game for CHEM 120 students. The game allows students to draw and check their structures for a given formula against a database of possible correct structures. The game consists of 8 levels, each based on drawing the maximum possible isomers from a given chemical formula. It is created as a web-based application on React.js. The project shall allow greater liberty and ease to students in drawing structures. In addition, they shall be able to perform self-check for drawn structures which will significantly minimize the assistance required from instructors …


Introduction To Common Molecular Biological Techniques Used In Research Laboratories, Dington Tan, Ruitang Deng, Winifer Ali, Qiwen Chen Oct 2022

Introduction To Common Molecular Biological Techniques Used In Research Laboratories, Dington Tan, Ruitang Deng, Winifer Ali, Qiwen Chen

Annual Student Research Poster Session

The main techniques used in molecular biology are cloning, PCR (Polymerase Chain Reaction), nucleic acid electrophoresis, DNA microarray analysis, in situ hybridization (HIS), sequencing (Sanger or Next Generation Sequencing (NGS)). Molecular biology techniques are extremely valuable for addressing a wide range of issues impacting the general state of humanity, in addition to investigating fundamental scientific concerns. Applications for molecular biology techniques include the prevention and treatment of disease, the creation of new protein products, and the modification of plants and animals to produce desired phenotypic traits.


Continuous Npwt Regulates Fibrosis In Murine Diabetic Wound Healing, Mengfan Wu, Dany Y Matar, Zhen Yu, Ziyu Chen, Samuel Knoedler, Brian Ng, Oliver A Darwish, Sadaf Sohrabi, Leigh Friedman, Valentin Haug, George F Murphy, Yuval Rinkevich, Dennis P Orgill, Adriana C Panayi Oct 2022

Continuous Npwt Regulates Fibrosis In Murine Diabetic Wound Healing, Mengfan Wu, Dany Y Matar, Zhen Yu, Ziyu Chen, Samuel Knoedler, Brian Ng, Oliver A Darwish, Sadaf Sohrabi, Leigh Friedman, Valentin Haug, George F Murphy, Yuval Rinkevich, Dennis P Orgill, Adriana C Panayi

2020-Current year OA Pubs

Scarring is associated with significant morbidity. The mechanical signaling factor yes-associated protein (YAP) has been linked to Engrailed-1 (En1)-lineage positive fibroblasts (EPFs), a pro-scarring fibroblast lineage, establishing a connection between mechanotransduction and fibrosis. In this study, we investigate the impact of micromechanical forces exerted through negative pressure wound therapy (NPWT) on the pathophysiology of fibrosis. Full-thickness excisional dorsal skin wounds were created on diabetic (db/db) mice which were treated with occlusive covering (control) or NPWT (continuous, -125 mmHg, 7 days; NPWT). Analysis was performed on tissue harvested 10 days after wounding. NPWT was associated with increased YAP (


The Role Of Ubiquitination In Spinal And Bulbar Muscular Atrophy, Medha Sengupta, Anna Pluciennik, Diane E. Merry Oct 2022

The Role Of Ubiquitination In Spinal And Bulbar Muscular Atrophy, Medha Sengupta, Anna Pluciennik, Diane E. Merry

Department of Biochemistry and Molecular Biology Faculty Papers

Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene. The AR is an important transcriptional regulator of the nuclear hormone receptor superfamily; its levels are regulated in many ways including by ubiquitin-dependent degradation. Ubiquitination is a post-translational modification (PTM) which plays a key role in both AR transcriptional activity and its degradation. Moreover, the ubiquitin-proteasome system (UPS) is a fundamental component of cellular functioning and has been implicated in diseases of protein misfolding and aggregation, including polyglutamine (polyQ) repeat expansion diseases …


Safety And Immunogenicity Of The Na-Apr-1 Hookworm Vaccine In Infection-Naïve Adults, David J Diemert, Maria Zumer, Doreen Campbell, Shannon Grahek, Guangzhao Li, Jin Peng, Maria Elena Bottazzi, Peter Hotez, Jeffrey Bethony Oct 2022

Safety And Immunogenicity Of The Na-Apr-1 Hookworm Vaccine In Infection-Naïve Adults, David J Diemert, Maria Zumer, Doreen Campbell, Shannon Grahek, Guangzhao Li, Jin Peng, Maria Elena Bottazzi, Peter Hotez, Jeffrey Bethony

Center for Medical Ethics and Health Policy Staff Publications

Background: The Necator americanus hemoglobinase, aspartic protease-1 (Na-APR-1), facilitates the ability of adult hookworms to parasitize the intestine of their human hosts. A recombinant version of APR-1 protected laboratory animals against hookworm infection by inducing neutralizing antibodies that block the protein's enzymatic activity and thereby impair blood feeding. A catalytically inactive version of the wild-type hemoglobinase (Na-APR-1(M74)) was expressed by infiltrating Nicotiana benthamiana tobacco plants with an Agrobacterium tumefaciens strain engineered to express the vaccine antigen, which was adjuvanted with aluminum hydroxide adjuvant (Alhydrogel).

Methods: An open-label dose-escalation Phase 1 clinical trial was conducted in 40 healthy, hookworm-naïve adult volunteers …


Diabetes Duration And Subclinical Myocardial Injury: The Atherosclerosis Risk In Communities Study (Aric), Carine E Hamo, Justin B Echouffo-Tcheugui, Sui Zhang, Roberta Florido, James S Pankow, Erin D Michos, Ronald Goldberg, Vijay Nambi, Gary Gerstenblith, Wendy S Post, Roger S Blumenthal, Christie Ballantyne, Elizabeth Selvin, Josef Coresh, Chiadi E Ndumele Oct 2022

Diabetes Duration And Subclinical Myocardial Injury: The Atherosclerosis Risk In Communities Study (Aric), Carine E Hamo, Justin B Echouffo-Tcheugui, Sui Zhang, Roberta Florido, James S Pankow, Erin D Michos, Ronald Goldberg, Vijay Nambi, Gary Gerstenblith, Wendy S Post, Roger S Blumenthal, Christie Ballantyne, Elizabeth Selvin, Josef Coresh, Chiadi E Ndumele

Faculty, Staff and Students Publications

Background: Diabetes exerts adverse effects on the heart, and a longer diabetes duration is associated with greater heart failure risk. We studied diabetes duration and subclinical myocardial injury, as reflected by high-sensitivity cardiac troponin (hs-cTnT).

Methods: We analyzed 9052 participants without heart failure or coronary heart disease (mean age 63 years, 58% female, 21% Black, 15% with diabetes) at The Atherosclerosis Risk in Communities Study (ARIC) Visit 4 (1996 to 1998). Diabetes duration was calculated based on diabetes status at Visits 1 (1987 to 1989) through 4, or using self-reported age of diabetes diagnosis prior to Visit 1. We used …


The Recurrent De Novo C.2011c>T Missense Variant In Mtss2 Causes Syndromic Intellectual Disability, Yan Huang, Gabrielle Lemire, Lauren C Briere, Fang Liu, Marja W Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A High, Melissa A Walker, Lance H Rodan, Undiagnosed Diseases Network, Care4rare Canada Consortium, Kristin D Kernohan, David A Sweetser, Kym M Boycott, Hugo J Bellen Oct 2022

The Recurrent De Novo C.2011c>T Missense Variant In Mtss2 Causes Syndromic Intellectual Disability, Yan Huang, Gabrielle Lemire, Lauren C Briere, Fang Liu, Marja W Wessels, Xueqi Wang, Matthew Osmond, Oguz Kanca, Shenzhao Lu, Frances A High, Melissa A Walker, Lance H Rodan, Undiagnosed Diseases Network, Care4rare Canada Consortium, Kristin D Kernohan, David A Sweetser, Kym M Boycott, Hugo J Bellen

Duncan NRI Faculty and Staff Publications

MTSS2, also known as MTSS1L, binds to plasma membranes and modulates their bending. MTSS2 is highly expressed in the central nervous system (CNS) and appears to be involved in activity-dependent synaptic plasticity. Variants in MTSS2 have not yet been associated with a human phenotype in OMIM. Here we report five individuals with the same heterozygous de novo variant in MTSS2 (GenBank: NM_138383.2: c.2011C>T [p.Arg671Trp]) identified by exome sequencing. The individuals present with global developmental delay, mild intellectual disability, ophthalmological anomalies, microcephaly or relative microcephaly, and shared mild facial dysmorphisms. Immunoblots of fibroblasts from two affected individuals revealed that the …