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Pilot Study: Heterogeneous Grouping And Reciprocal Peer Teaching In Anatomy Medical Education, Julia Jordan, Rebecca Hartley Apr 2022

Pilot Study: Heterogeneous Grouping And Reciprocal Peer Teaching In Anatomy Medical Education, Julia Jordan, Rebecca Hartley

HSC Education Days

Goals of the 2019 UNM SOM curriculum revision include reducing the students repeating Phase I for academic reasons to less than 5% and those delaying Step I to less than 10%. To address these, we introduced two interventions into Clinical Morphology (CM), the foundational anatomy course taken by first year UNM medical students. Interventions included competence-based heterogeneous (CBH) student group formation and reciprocal peer teaching (RPT). These interventions applied independently have been shown to elevate the lowest performing students without negatively impacting higher performing students (Donovan, 2018 & Pizzimenti, 2016). CM is designed around classroom and lab-based active learning sessions …


Towards Conserving Crop Wild Relatives Along The Texas–Mexico Border: The Case Of Manihot Walkerae, Gisel Garza, Crystian Sadel Venegas Barrera, Jon Dale, José Guadalupe Martínez-Ávalos, Teresa Patricia Feria-Arroyo Apr 2022

Towards Conserving Crop Wild Relatives Along The Texas–Mexico Border: The Case Of Manihot Walkerae, Gisel Garza, Crystian Sadel Venegas Barrera, Jon Dale, José Guadalupe Martínez-Ávalos, Teresa Patricia Feria-Arroyo

School of Integrative Biological & Chemical Sciences (Formerly Dept. of Biology)

Walker’s Manihot, Manihot walkerae, is an endangered species endemic to south Texas and northeastern Mexico and is a Crop Wild Relative (CWR) of the international and economically important crop cassava (M. esculenta). Manihot walkerae is globally endangered (IUCN’s Redlist, Texas list, USA); however, it is not recognized on the Mexican list of endangered species (NOM-059-SEMARNAT). We assessed the status of M. walkerae in Mexico and re-evaluated its global status. According to our analysis, M. walkerae should be considered an endangered species based on the IUCN’s assessment method and a threatened species in Mexico based on the Mexican criteria. Our findings …


Depression Is Associated With Myocardial Infarction Within A Two-Year Period Among Adults In China, Lydia W. Li, Greta Cheng, Hongwei Xu, Zhenmei Zhang, Jinyu Liu, Yeates Conwell Apr 2022

Depression Is Associated With Myocardial Infarction Within A Two-Year Period Among Adults In China, Lydia W. Li, Greta Cheng, Hongwei Xu, Zhenmei Zhang, Jinyu Liu, Yeates Conwell

Publications and Research

We examined whether baseline depression is associated with MI within a two-year period among adults aged 45+ in China and whether the association varies by sociodemographic characteristics. Two-year longitudinal data from a nationally representative sample of people aged 45+ in China were analyzed (N = 15,226). MI within the 2-year period was coded dichotomously. Baseline depression, assessed by the 10-item Center for Epidemiological Studies Depression scale, was used as a dichotomous and a continuous variable. After adjusting for medical conditions, lifestyle and sociodemographic characteristics, the odds of having an MI within the 2-year period were 46% greater for respondents with …


Book Reviews, Florida Historical Society Apr 2022

Book Reviews, Florida Historical Society

Florida Historical Quarterly

Finlay, Growing American Rubber: Strategic Plants and the Politics of National Security. by Anne B. Effland; Alderson, Jr., This Bright Era of Happy Revolutions: French Consul Michel-Ange-Bernard Mangourit and International Republicanism in Charleston, 1792-1794, by Rafe Blaufarb; O'Connor and Monroe, Florida's American Heritage River: Images from the St. Johns Region. by R. Bruce Stephenson; Davis, An Everglades Providence: Marjory Stoneman Douglas and the American Environmental Century. by Gregory Bush; Griffin, ed., The Odyssey of an African Slave. By Sitiki. by Michael Guasco; Brana-Shute and Sparks, eds., Paths to Freedom: Manumission in the Atlantic World. by Timothy R. Buckner; Curnutt and …


Looks Like Acquittal: Sex, Murder, And The Tampa Morning Tribune, 1895, J. Thomas Perry Apr 2022

Looks Like Acquittal: Sex, Murder, And The Tampa Morning Tribune, 1895, J. Thomas Perry

Florida Historical Quarterly

On the morning of August 22, 1894, W.M. Hendley fished alone on a St. Petersburg, Florida dock. Sela P. Harrison approached the man from behind wielding a double-barreled shotgun, one barrel loaded with buck-shot and the other with slugs cut from a metal bar. Hendley was unaware of his assailant and no words were exchanged. Within ten feet of the victim, Sela fired both barrels striking Hendley in the torso and taking off the right side of his head. Sela remained calm. He did not attempt to flee the scene or dispose of the gun, rather, he walked slowly up …


Wetlands And Wildlife: Martin Johnson Heade In Florida, Charlotte M. Porter Apr 2022

Wetlands And Wildlife: Martin Johnson Heade In Florida, Charlotte M. Porter

Florida Historical Quarterly

During the late nineteenth century and early twentieth century, Florida drew the attention of a number of literary figures, naturalists and landscape artists who were vocal in the national conservation movement.1 Often traveling as observers for developers and entrepreneurs, they documented landscapes in words and paintings that now constitute a national treasure. In 1867, Charles Beecher, brother of novelist Harriet Beecher Stowe arrived at the mouth of the St. Johns River. "The river stretched away so boundlessly," he wrote that "it seemed rather [like] a great sea or lake."2 Impressed by the expansive beauty, Beecher described his gateway as a …


End Notes, Florida Historical Society Apr 2022

End Notes, Florida Historical Society

Florida Historical Quarterly

Call for Papers, 2010 Annwal Meeting of the Florida Historical Society; The Friends of the Florida Historical Society Present The 2009/2010 Discover Florida Series Speakers; Florida Frontiers: The Weekly Radio Magazine of the Florida Historical Society; Florida Historical Quarterly Podcasts; Florida Historical Quarterly Joins JSTOR; Florida History Lecture Series; Guidelines for Submissions to the Florida Historical Quarterly


End Notes, Florida Historical Society Apr 2022

End Notes, Florida Historical Society

Florida Historical Quarterly

Friends of the Florida Historical Society Present the 2009-2010 Discover Florida Series Speakers; The Florida Historical Society Presents the Fall Florida History Film Festival 2009; Florida Fronteirs: The Weekly Radio Magazine of the Florida Historical Society; Gulf South History and Humanities Conference; Florida History Lecture Series; Call for Papers: Agricultural History Society; Guidelines for Submissions to the Florida Historical Quarterly


Sharp Prose For Green: John D. Macdonald And The First Ecological Novel, Jack E. Davis Apr 2022

Sharp Prose For Green: John D. Macdonald And The First Ecological Novel, Jack E. Davis

Florida Historical Quarterly

Hardboiled-fiction writer John D. MacDonald was known to fulminate with devastating eloquence against the profligate pillaging of the Florida Dream. Its post-World War II disintegration into a nightmare took form as a subtheme in numerous novels he produced between the 1950s and 1980s and ultimately as a subgenre that inspired a future generation of socially minded Florida writers.1 Having made the state his home, MacDonald sensed personal loss when the combined improvidence and greed of businesses and government leaders impaired the general quality of life. He put his concerns to creative use in cutting prose, saving his harshest words for …


Florida And The Environment: From "La Florida" To Global Warming, Duane E. Defreese Apr 2022

Florida And The Environment: From "La Florida" To Global Warming, Duane E. Defreese

Florida Historical Quarterly

Stephen Hawking's book, A Brief History in Time begins with a short passage about a well-known scientist giving a public lecture on astronomy and the meaning of the universe... "He described how the earth &ts around the sun and how the sun, in turn, around the center of a vast collection of stars called our galaxy. At the end of the lecture, a little old lady in the back of the room got up and said. "What you have told us is rubbish. The world is really a flat plate supported on the back of a giant tortoise." The scientist …


Selling Education In The Shape Of A Shuttle, Margaret A. Weitekamp Apr 2022

Selling Education In The Shape Of A Shuttle, Margaret A. Weitekamp

Florida Historical Quarterly

At some point in the early- to mid-1980s, probably in 1983 or 1984 when he was about ten or eleven years old, my younger brother, Raymond, wrote a letter to the National Aeronautics and Space Administration (NASA), volunteering to be the first child in space. He wanted to fly as a passenger on NASA's Space Transportation System, a vehicle known better as the Space Shuttle. In response, he received a large envelope from NASA stuffed with fact sheets and brochures as well as posters and stickers that soon decorated his bedroom and filled a scrapbook. Although Ray's desire to volunteer …


Florida Classroom: Designing History: An Interactive Exploration Of The 1930s Florida Ship Canal, Chris Beckmann Apr 2022

Florida Classroom: Designing History: An Interactive Exploration Of The 1930s Florida Ship Canal, Chris Beckmann

Florida Historical Quarterly

Typically the study of Florida history in the state's schools begins and ends in the fourth grade. Students learn that St. Augustine predates Jamestown, the Seminole Wars were the deadliest and costliest Indian conflicts in American history, Olustee was the only major Civil War battle fought on Florida soil, and 1920's Miami was the center of the first Florida land boom. Unfortunately most high school curricula do not build upon that base and place little emphasis upon the important place of Florida history within the larger national historical narrative. Discussions of race often ignore Rosewood and the significance of Harry …


Mapping Of Highly Cited Articles Published In The Journal Of Academic Librarianship, Zia Ahmed, Ikram Ul Haq, Mumtaz Hussain Satti, Fayaz Ul Haq Apr 2022

Mapping Of Highly Cited Articles Published In The Journal Of Academic Librarianship, Zia Ahmed, Ikram Ul Haq, Mumtaz Hussain Satti, Fayaz Ul Haq

Library Philosophy and Practice (e-journal)

The assessment of highly cited papers published in a single journal is an important parameter to appraise the research. The present study aims to analyze the attributes of 100 highly cited papers published in The Journal of Academic Librarianship (JAL). The data of targeted papers was obtained from the Web of Science database on the 2nd Week of February 2022. The highly cited papers were published between 1983 to 2016 and these papers were cited 6,289 times with an average of 628.9 citations per paper. The highest number of cited papers were published in 2008 and the …


Increased Risk Of Mental Illness Due To Epigenetic Alteration Of The Nr3c1 Gene After Early Life Adversity., Erin Mccue Apr 2022

Increased Risk Of Mental Illness Due To Epigenetic Alteration Of The Nr3c1 Gene After Early Life Adversity., Erin Mccue

Thinking Matters Student Research Symposium

Early life adversity (ELA), such as malnutrition, abuse, and economic disparity, is an issue commonly seen in adolescents, a group already facing increased risk for stress-related disorders. This review of current literature reveals that gestational stress exposure, as well as variations in maternal care during postnatal development, cause latent effects on the epigenome, specifically impacting the glucocorticoid receptors (GRs) encoded by the NR3C1 gene. GRs bind to glucocorticoids to regulate the body’s neuroendocrine stress response. However, in those with a history of ELA, the number of GRs is reduced, generating dysregulation within the hypothalamic-pituitary-adrenal (HPA) axis. Rodent studies are utilized …


Validity And Reliability Of The Spence And Robbins Workaholism Battery: A Study In Malaysian Employees, Ammar Almustafa, Guek Nee Ke Apr 2022

Validity And Reliability Of The Spence And Robbins Workaholism Battery: A Study In Malaysian Employees, Ammar Almustafa, Guek Nee Ke

Psychological Research on Urban Society

This psychometric study aims to contribute to the evolving cross-cultural definition of workaholism by exploring the reliability and validity of using the Workaholism Battery (WorkBAT; Spence & Robbins, 1992) in a sample of 183 full-time white-collar workers in Malaysia. Using data from online surveys, collected from full-time white-collar workers in the private and public sectors, factor analysis was used to indicate factor solutions contributing to the definition of workaholism based on the Spence and Robbins (1992) model of high work involvement, high work drive, and low work enjoyment. The study identified three factors and reassigned the items between them into …


University Curriculum Committee Meeting Minutes - April 28, 2022, University Curriculum Committee Apr 2022

University Curriculum Committee Meeting Minutes - April 28, 2022, University Curriculum Committee

University Curriculum Committee Meeting Materials

Minutes for the Governors State University Curriculum Committee Meeting held April 28, 2022.


Effects Of Amino Acids On Induction Of The E. Coli Tnacab Operon, Addison Walker Reed Apr 2022

Effects Of Amino Acids On Induction Of The E. Coli Tnacab Operon, Addison Walker Reed

Honors Capstone Projects and Theses

No abstract provided.


Study On Electrochemical Conversion Of Ammonium Sulfate To Ammonium Persulfate In Acetylpyrazine Wastewater, Yi-Jie Wang, Dong-Fang Niu, Xin-Sheng Zhang Apr 2022

Study On Electrochemical Conversion Of Ammonium Sulfate To Ammonium Persulfate In Acetylpyrazine Wastewater, Yi-Jie Wang, Dong-Fang Niu, Xin-Sheng Zhang

Journal of Electrochemistry

Acetylpyrazine is an important spice and also plays important roles in biology, medicine and other fields. However, the wastewater containing ammonium persulfate, ferric ion (Fe3+), pyrazine, and a large amount of ammonium sulfate was produced during the production of acetylpyrazine. In this study, ammonium sulfate in acetylpyrazine wastewater was electrolytically converted into ammonium persulfate for economic benefits. Using platinum as an anode and graphite as a cathode, the influence factors of the electrolysis process (including the composition of the anolyte, the current density, the temperature, etc.) were firstly investigated without interference from other compositions. Under the optimal condition, …


The Central Dogma: Gene Expression, Ayisha Sookdeo Apr 2022

The Central Dogma: Gene Expression, Ayisha Sookdeo

Open Educational Resources

In this lesson plan, students will learn the basic structure and function of DNA and RNA. They will also learn the process of gene expression. Finally, students will learn about the scientific contributor, Ernest Everest Just, and his contributions to the field of Biology.


Grrrls, Grrrls, Grrrls: Incorporating Feminist Theory Into Punk Rock Composition, Bryan M. Waring Apr 2022

Grrrls, Grrrls, Grrrls: Incorporating Feminist Theory Into Punk Rock Composition, Bryan M. Waring

Composition/Recording Projects

This project argues that one can make rock music with anti-sexist values by incorporating feminist criticism and gendered performance into the composition of punk rock music. To test this thesis, the history of feminism and its implementation within musical discourse were examined. Using feminist music theory as a lens for observation, several songs from female artists and mix-gender bands within the punk genre were analyzed. This was done in order to find similarities in compositional practices and to explore punk rock’s symbolic representations of gender. Areas covered were the expression of jouissance by the proto-punks, the use of détournement by …


Post-Stroke Administration Of L-4f Promotes Neurovascular And White Matter Remodeling In Type-2 Diabetic Stroke Mice, Min Zhou, Rongwen Li, Poornima Venkat, Yu Qian, Michael Chopp, Alex Zacharek, Julie Landschoot-Ward, Brianna Powell, Quan Jiang, Xu Cui Apr 2022

Post-Stroke Administration Of L-4f Promotes Neurovascular And White Matter Remodeling In Type-2 Diabetic Stroke Mice, Min Zhou, Rongwen Li, Poornima Venkat, Yu Qian, Michael Chopp, Alex Zacharek, Julie Landschoot-Ward, Brianna Powell, Quan Jiang, Xu Cui

Neurology Articles

Patients with type 2 diabetes mellitus (T2DM) exhibit a distinct and high risk of ischemic stroke with worse post-stroke neurovascular and white matter (WM) prognosis than the non-diabetic population. In the central nervous system, the ATP-binding cassette transporter member A 1 (ABCA1), a reverse cholesterol transporter that efflux cellular cholesterol, plays an important role in high-density lipoprotein (HDL) biogenesis and in maintaining neurovascular stability and WM integrity. Our previous study shows that L-4F, an economical apolipoprotein A member I (ApoA-I) mimetic peptide, has neuroprotective effects via alleviating neurovascular and WM impairments in the brain of db/db-T2DM stroke mice. To further …


Investigating Effects Of Ananadmide Treatment On Zebrafish Embryonic Development, Shelby Tilton, Nikki Glenn Apr 2022

Investigating Effects Of Ananadmide Treatment On Zebrafish Embryonic Development, Shelby Tilton, Nikki Glenn

[Archive] Belmont University Research Symposium (BURS)

No abstract provided.


The Minutes Of The Marshall University Staff Council Meeting, April 2022, Marshall University Staff Council Apr 2022

The Minutes Of The Marshall University Staff Council Meeting, April 2022, Marshall University Staff Council

Staff Council Minutes

No abstract provided.


Comparison Of Five Supervised Feature Selection Algorithms Leading To Top Features And Gene Signatures From Multi-Omics Data In Cancer, Tapas Bhadra, Saurav Mallik, Neaj Hasan, Zhongming Zhao Apr 2022

Comparison Of Five Supervised Feature Selection Algorithms Leading To Top Features And Gene Signatures From Multi-Omics Data In Cancer, Tapas Bhadra, Saurav Mallik, Neaj Hasan, Zhongming Zhao

Faculty, Staff and Student Publications

BACKGROUND: As many complex omics data have been generated during the last two decades, dimensionality reduction problem has been a challenging issue in better mining such data. The omics data typically consists of many features. Accordingly, many feature selection algorithms have been developed. The performance of those feature selection methods often varies by specific data, making the discovery and interpretation of results challenging.

METHODS AND RESULTS: In this study, we performed a comprehensive comparative study of five widely used supervised feature selection methods (mRMR, INMIFS, DFS, SVM-RFE-CBR and VWMRmR) for multi-omics datasets. Specifically, we used five representative datasets: gene expression …


Age Moderates The Effect Of Injury Severity On Functional Trajectories In Traumatic Brain Injury: A Study Using The Nidilrr Traumatic Brain Injury Model Systems National Dataset., Laraine Winter, Janell L Mensinger, Helene J Moriarty, Keith M Robinson, Michelle Mckay, Benjamin E Leiby Apr 2022

Age Moderates The Effect Of Injury Severity On Functional Trajectories In Traumatic Brain Injury: A Study Using The Nidilrr Traumatic Brain Injury Model Systems National Dataset., Laraine Winter, Janell L Mensinger, Helene J Moriarty, Keith M Robinson, Michelle Mckay, Benjamin E Leiby

Department of Pharmacology and Experimental Therapeutics Faculty Papers

Age is a risk factor for a host of poor outcomes following traumatic brain injury (TBI), with some evidence suggesting that age is also a source of excess disability. We tested the extent to which age moderates the effect of injury severity on functional trajectories over 15 years post injury. Data from 11,442 participants from the 2020 National Institute of Disability and Independent Living Rehabiitation Research (NIDILRR) Traumatic Brain Injury Model Systems (TBIMS) National Dataset were analyzed using linear mixed effects models. Injury severity was operationally defined using a composite of Glasgow Coma Scale scores, structural imaging findings, and the …


A New Species Of Celastrina From The Northwestern United States And Southwestern Canada With A Lectotype Designation Of Lycaena Pseudargiolus Var. Nigrescens Fletcher (Lycaenidae: Polyommatinae), Caitlin C. Labar, Jonathan P. Pelham, Norbert G. Kondla Apr 2022

A New Species Of Celastrina From The Northwestern United States And Southwestern Canada With A Lectotype Designation Of Lycaena Pseudargiolus Var. Nigrescens Fletcher (Lycaenidae: Polyommatinae), Caitlin C. Labar, Jonathan P. Pelham, Norbert G. Kondla

The Taxonomic Report of the International Lepidoptera Survey

A new western azure species, Celastrina asheri, is described from the northwestern United States and southwestern Canada. A lectotype is designated for Lycaena pseudargiolus var. nigrescens Fletcher, 1903 to secure the identity of that name. C. asheri broadly overlaps with the northeastern range of C. echo (W. H. Edwards, 1864) but is usually very distinct from that species. C. lucia (W. Kirby, 1837) is narrowly sympatric with C. asheri in British Columbia, the southwest corner of Alberta and along the Rocky Mountains in Montana. As far as is known, C. asheri uses only red osier dogwood (Cornus sericea …


Age-Related Differences In Food-Specific Inhibitory Control: Electrophysiological And Behavioral Evidence In Healthy Aging, Whitney D. Allen Apr 2022

Age-Related Differences In Food-Specific Inhibitory Control: Electrophysiological And Behavioral Evidence In Healthy Aging, Whitney D. Allen

Theses and Dissertations

The number of older adults is estimated to double from 52 million to 95 million by 2060. Approximately 80-85% of older adults are diagnosed with a chronic health condition. Many of these chronic health conditions are influenced by diet and exercise, suggesting improved diet and eating behaviors could improve health-related outcomes. One factor that might improve dietary habits in older adults is food-related inhibitory control. We tested whether food-related inhibitory control, using behavioral (response time, error rate) and scalp-recorded event-related potential (ERP; N2 and P3 components) measures of food-related inhibitory control differed between younger and older adults over age 55. …


Tcr-L: An Analysis Tool For Evaluating The Association Between The T-Cell Receptor Repertoire And Clinical Phenotypes, Meiling Liu, Juna Goo, Yang Liu, Wei Sun, Michael C. Wu, Li Hsu, Qianchuan He Apr 2022

Tcr-L: An Analysis Tool For Evaluating The Association Between The T-Cell Receptor Repertoire And Clinical Phenotypes, Meiling Liu, Juna Goo, Yang Liu, Wei Sun, Michael C. Wu, Li Hsu, Qianchuan He

Mathematics Faculty Publications and Presentations

Background: T cell receptors (TCRs) play critical roles in adaptive immune responses, and recent advances in genome technology have made it possible to examine the T cell receptor (TCR) repertoire at the individual sequence level. The analysis of the TCR repertoire with respect to clinical phenotypes can yield novel insights into the etiology and progression of immune-mediated diseases. However, methods for association analysis of the TCR repertoire have not been well developed.

Methods: We introduce an analysis tool, TCR-L, for evaluating the association between the TCR repertoire and disease outcomes. Our approach is developed under a mixed effect modeling, where …


Tedania Ignis Cell Fractions: Their Symbionts And Serotonin, Bilal Mutluguler Apr 2022

Tedania Ignis Cell Fractions: Their Symbionts And Serotonin, Bilal Mutluguler

Harriet L Wilkes Honors College Theses 2020 - Present

Sponges (phylum Porifera) are the most basal of all animals, yet, paradoxically, they still puzzle scientists with their complexity. One mystery baffling researchers since its discovery in the mid-1960s is the presence of serotonin in these brainless animals, which lack neurons. The current controversy involves the identification of which cells in a sponge produce serotonin: the sponge cells or the sponge-associated microbes? Sponges are holobionts, comprised of both the sponge cells themselves and the affiliated microorganisms that live with them (like bacteria and archaea). This honors thesis aims to determine whether the Tedania ignis cells or their associated symbionts contain …


Heterozygous Frameshift Variants In Hnrnpa2b1 Cause Early-Onset Oculopharyngeal Muscular Dystrophy, Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bönnemann, J Paul Taylor Apr 2022

Heterozygous Frameshift Variants In Hnrnpa2b1 Cause Early-Onset Oculopharyngeal Muscular Dystrophy, Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R Hammans, A Reghan Foley, Charlotte M Fare, Alice F Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G O'Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T Zaharieva, Lauren Brady, Ying Hu, Thomas E Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E French, Andriy Shatillo, F Lucy Raymond, Tobias B Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A Tarnopolsky, James Shorter, Carsten G Bönnemann, J Paul Taylor

Department of Biochemistry and Molecular Biology Faculty Papers

Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy. Here, we present ten independent families with a severe, progressive muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD) but of much earlier onset, caused by heterozygous frameshift variants in the RBP hnRNPA2/B1. All disease-causing frameshift mutations abolish the native stop codon and extend the reading frame, creating novel transcripts that escape nonsense-mediated decay and are translated to produce hnRNPA2/B1 protein with the same neomorphic C-terminal sequence. In contrast to previously reported disease-causing missense variants in HNRNPA2B1, these frameshift …