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Hu308, A Selective Cannabinoid Type-2 Receptor Agonist, Mitigates Sars-Cov-2 Spike Protein-Induced Acute Lung Injury In Mice, Janette Lockett, Gregory Nicholson, Nicholas Richards, Ryan Washington, Nagaraja Nagre

Department of Biomedical and Translational Sciences Faculty Publications

Introduction

The coronavirus disease 2019 (COVID-19) pandemic, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), continues to pose major health challenges despite effective vaccination efforts. The sustained occurrence of breakthrough infections and emerging variants of the virus highlights the need for additional therapeutic strategies. Given the anti-inflammatory role of the cannabinoid type 2 receptor (CB2R), we examined the effect of CB2R activation in SARS-CoV-2 spike protein subunit 1 (S1SP)-induced acute lung injury (ALI).

Methods

ALI was induced in mice by intratracheal (i.t.) administration of S1SP, followed by treatment with the CB2R agonist HU308 (5 mg/kg, intraperitoneal: i.p.) 1 h …

Extracellular Vesicles In Prostate Cancer: Current Understanding And Future Perspectives, Balaji Perumalsamy, Parthasarathy Seshacharyulu, Raghupathy Vengoji, Nicole Shonka, Benjamin A. Teply, Surinder K. Batra, Sakthivel Muniyan

Journal Articles: Biochemistry & Molecular Biology

Exosomes are nanoscale, lipid bilayer extracellular vesicles (EVs) actively secreted by cells under both physiological and pathological conditions. As key mediators of intercellular communication, exosomes carry a diverse array of molecular cargo, including nucleic acids, proteins, lipids, and metabolites, which can influence the function of recipient cells. Based on evidence from 2016–2025 across PubMed, Embase, the Cochrane Library, and clinicaltrials.org, this review consolidates current understanding of exosome biology in prostate cancer (PCa). We discuss exosome biogenesis, molecular cargo composition, and their functional roles in tumor progression, angiogenesis, immune evasion, metastasis, and therapy resistance of PCa. We emphasize the biomarker potential …

The Underexplored Complexity Of Pancreatic Cancer: Early Dissemination And Quiescence, Nivedeta Krishna Kumar, Annant Bir Kaur, Surinder K. Batra, Moorthy P. Ponnusamy

Journal Articles: Biochemistry & Molecular Biology

Pancreatic cancer has been renowned for its aggressive nature and occasionally manifests periods of dormancy, presenting a perplexing challenge in studying disease progression. Despite surgery, many patients relapse due to dormancy and chemoresistance, resulting in recurrence and death within a few years. Studies also suggest that pancreatic cancer disseminates early on, spreading to secondary organs with no evidence of disease. The lingering question is: how, where, and when does pancreatic cancer recur and spread? Herein, we explore evidence for clinically dormant pancreatic cancer cells, examining the roles of quiescence and stemness populations and their interactions with the tumor microenvironment. Understanding …

Mucin 5ac Modulates Cancer-Associated Fibroblast Heterogeneity Through Epigenetic Reprogramming Of Precursor Cells, Rachel J. Kehrberg, Namita Bhyravbhatla, Zahraa Wajih Alsafwani, Xiaoqi Li, Gopalakrishnan Natarajan, Imran Khan, Randall E. Brand, Maneesh Jain, Surinder K. Batra, Sushil Kumar

Journal Articles: Biochemistry & Molecular Biology

Pancreatic cancer (PC) is characterized by extensive desmoplasia, with heterogeneous cancer-associated fibroblasts (CAFs) as a major component. However, the contribution of distinct precursor cells to CAF heterogeneity remains poorly defined. This study investigated the role of Muc5ac in modulating CAF heterogeneity by maturing precursor cells, including adipose-derived mesenchymal stem cells (AD-MSCs), bone marrow-derived MSCs (BM-MSCs), and pancreatic stellate cells (PSCs), into different CAF subsets. RNA sequencing of precursor cells treated with conditioned media from Muc5ac-proficient or -deficient cancer cells revealed distinct transcriptional profiles. Muc5ac significantly modulated the expression of Dnmts and Tets in AD-MSCs, promoting the acquisition of extracellular matrix …

Pancreatic Cancer Detection Consortium Biomarker Bakeoff: A Phase Ii Blinded Biomarker Validation And Panel Discovery Study, Ann L. Oberg, William R. Bamlet, Grant Izmirlian, Seetharaman Balasenthil, Surinder K. Batra, Masataka Hayashi, Daniel S. Herman, Michael A. Hollingsworth, Maneesh Jain, Ann M. Killary, Brianna M. Krusen, Suyu Liu, Shounak Majumder, Gopalakrishnan Natarajan, Subrata Sen, Lynette M. Smith, Sudhir Srivastava, Brian M. Wolpin, Kenneth S. Zaret, Michael G. Goggins

Journal Articles: Biochemistry & Molecular Biology

PURPOSE: The Pancreatic Cancer Detection Consortium (PCDC) performed a blinded Early Detection Research Network-defined phase II biomarker bakeoff study of blood-based biomarker panels. The aims were to evaluate panel performance, to compare the panels' performance with that of cancer antigen 19-9 (CA19-9) alone, and to evaluate the performance of new combinations of the individual biomarkers.

EXPERIMENTAL DESIGN: Ten biomarkers representing eight biomarker panels and CA19-9 were evaluated using plasma, serum, and germline DNA from 140 stage I to IV pancreatic ductal adenocarcinoma (PDAC) cases and 140 controls from three tertiary care institutions, with controls frequency matched to cases on age …

Overcoming Radiation Resistance: Ferroptosis Induction To Sensitize Solid Tumors To Radiation Therapy, Joseph Carmicheal, Caden M. Fritson, Alexandra Seas, Heidi M. Vieira, Surinder K. Batra

Journal Articles: Biochemistry & Molecular Biology

Radiation therapy (RT) is a mainstay of treatment for a myriad of cancers, often utilized for tumors that are unable to be resected, as well as an adjunct to surgery and chemotherapy. Unfortunately, many cancers are resistant to RT-induced damage and subsequent cell death. This has spurred the pursuit of novel radiation sensitizers that could potentiate the effects of this widely used and important treatment modality. Since its discovery as a regulated cell death mechanism in 2012, ferroptosis has been studied for its connection to cancer and other known oxidative pathways. With this, the interplay between RT and ferroptosis in …

Activist Judicial Restraints, Michael Gentithes

Akron Law Faculty Publications

For decades, jurists and scholars have touted the virtues of judicial restraint—a characteristic of judges who only adjudicate issues they are competent to resolve, thereby avoiding political thickets and preserving their authority. Judicial restraint is ingrained in justiciability doctrines that emanate from Article III of the Constitution. When applied evenhandedly, standing requirements, the political question doctrine, and prudential manageability prerequisites to litigation help the Court maintain an appropriately restrained docket.

The Roberts Court falls well short of this restrained ideal in potentially dangerous and destructive ways. The Court has changed justiciability doctrines into “activist judicial restraints” that, rather than avoiding …

Iv Contrast For Mri And Ct In Patients With Kidney Disease, Children's Mercy Kansas City

Clinical Pathways (Formally Known As Care Process Models)

No abstract provided.

Early Mobility In Icu Delirium, Audra Lambert Bsn, Rn, Cierra Alexander Bsn, Rn, Desmond Otasowie Bsn, Rn, Sydney Remeis Rn, Jeanie Sy Bsn, Rn, Hope Brown Bsn, Rn, Skylar Wooster Rn

Nurse Residency Posters

Facilitator: Ashley O'Day, MSN, RN CCRN

OhioHealth Grant Medical Center

Impact Of Exercise And Cognitive Behavioral Therapy On Anxiety And Depression, Ranjita Subedi, Rachel Affeldt, Abigail Bentley, Gavin Gump, Madison Mitchell, Taylor Rodgers, Bayley Mullins, Libbie Woodland, Sophia Rubenkoenig

Nurse Residency Posters

OhioHealth Grant Medical Center

Decreasing Incidence Of Falls During Change Of Shift, Najma Ali Adn, Rn, Kwabena Barnie Adn, Rn, Laura Bishop Bsn, Rn, Shalay Dale Bsn, Rn, Alli Fields Bsn, Rn, Tia Guo Adn, Rn, Ayan Haji Adn, Rn, Halley Spears Adn, Rn, Allison Stewart Adn, Rn, Courtney Uriostegui Bsn, Rn

Nurse Residency Posters

Facilitator: Dustin Eckert, BSN, RN

OhioHealth Riverside Methodist Hospital

Chaplain Service Benefits, Gabbie Bender, Jonathan Bennett, Maria Sebastiano, Tyler Moore, Azad Robinson, Amanda Hale, Rebecca Price

Nurse Residency Posters

Facilitator: Dara Pence

OhioHealth Pickerington Methodist Hospital and OhioHealth Berger Hospital

Ticket To Ride, Dakota Jenkins Rn, Darbi Brewer Bsn, Rn, Jedidiah Miller Bsn, Rn, Mattison Comer Bsn, Rn

Nurse Residency Posters

OhioHealth Berger Hospital

From Flexibility To Friction: Intended And Unintended Consequences Of Hot-Desking In Workplaces, Cheuk Hang Au, Lin Yue, Siqi Gao, Guanglei Cheng

Research outputs 2022 to 2026

Purpose: This study aims to theorize the tensions of hot-desking. Moving beyond its surface-level effects, we explain its complex impact on employee well-being and organizational conflict.

Design/methodology/approach: Using a multi-platform netnographic approach, we analyzed unsolicited discussions from online communities to capture diverse, authentic experiences across Eastern and Western contexts.

Findings: Grounded in technology affordance and constraints theory (TACT), our central finding is that hot-desking's affordances and constraints are dynamically co-produced. The organizational affordance of space efficiency is directly experienced by employees as a constraint of spatial insecurity and resource deprivation. This core tension fuels emergent social conflicts, such as senior …

Changing Student Perspectives On Alcohol, Smoking & Vaping Through The Use Of Tetrahymena, Courtney Hausner, Douglas L. Chalker, Alexandra Forgerson, Carol E. Colaninno, Alison Brockhouse, Rachel Ruggirello

Institute for School Partnership: Research & Publications

We describe the redesign and classroom testing of an Advancing Secondary Science Education through Tetrahymena (ASSET) module addressing adolescent alcohol, smoking, and vaping. Using the 5E instructional model, the module has students investigate how alcohol, cigarette smoke extract, and vape extract affect the ciliated protozoan Tetrahymena, an accessible proxy for effects on ciliated human respiratory cells. Students analyze public health data, conduct guided and self-designed investigations, and create outreach posters communicating evidence-based risks to peers. We report on observations from two classroom implementations, describing gains in students' ability to articulate toxicology concepts, connect cellular findings to whole-body health, and express …

Intersections Of Art And Medicine, Lina Adwer

EMET Projects

No abstract provided.

Clinical Data Integration: Impact On Quality Outcomes, Sora Park Choi

Yale School of Nursing Digital Theses

Clinical Data Integration: Impact on Quality Outcomes

Hospital readmissions continue to contribute substantially to poor patient outcomes and rising healthcare expenditures in the United States, with nearly 20% of Medicare beneficiaries readmitted within 30 days. Fragmented health information systems also impede care coordination and restrict providers’ capacity to deliver timely, high-quality care. This Doctor of Nursing Practice (DNP) project developed, implemented, and evaluated a provider dashboard that integrates real-time clinical and operational data to support primary care providers within a large multistate independent provider association.Guided by the Lean Six Sigma DMAIC framework, this quality improvement project was conducted with 10 …

Improving Patient-Centered Communication To Reduce Falls In A Suburban Community Hospital, Shaun Craig Dickson

Yale School of Nursing Digital Theses

Inpatient falls remain a significant and often preventable patient safety concern that cause harmand increase health delivery costs for health systems across the United States. Communication barriers between bedside clinicians and their patients are a known contributor to falls. This Doctor of Nursing Practice (DNP) quality improvement project evaluated whether a structured communication intervention could reduce falls by improving communication in a suburban community hospital. This project was implemented on a 30-bed Observation-Medical-Surgical unit. Nurses and Patient Care Technicians (PCTs) were trained in using the Plain Language, Engagement, Empathy, Empowerment and Respect (PEEER) Model of Communication to deliver individualized fall …

Increasing Adherence To Cognitive Behavioral Therapy Among Patients With Major Depressive Disorder, Tina Ho

Yale School of Nursing Digital Theses

Major depressive disorder (MDD) is a prevalent psychiatric condition that significantlyimpairs daily functioning, cognitive performance, and overall quality of life. Evidence-based interventions, including pharmacotherapy and psychotherapy, are effective in managing MDD, with cognitive behavioral therapy (CBT) recognized as one of the most empirically supported treatments (Cuijpers et al., 2016). Interventions are needed to improve adherence to CBT to reduce relapse rates by addressing barriers to engagement and supporting sustained participation in treatment. This project developed and implemented a standardized protocol to improve CBT adherence among patients with MDD newly referred for combined CBT and medication management. A new ‘barriers form’ …

Beyond Assumptions: What Students Really Think About School Wellbeing Programs, Amanda Madden

Research outputs 2022 to 2026

The study examined students’ perceptions of effective components in school-based wellbeing programs, addressing a critical gap where adolescent voices are absent. Data was gathered through a questionnaire, individual interviews, and focus groups conducted with 36 Year 12 students across three independent co-educational schools in Western Australia. Thematic analysis identified seven key components essential for effective wellbeing programming: targeted content providing respite from academic pressures, engaging and relatable presenters, strategic timing, developmental appropriateness, meaningful measurement, genuine teacher engagement, and authentic incorporation of student voice. Students valued practical, non-academic content and expressed scepticisms about teacher-delivered programs. Timing emerged as a previously underexplored …

Strengthening Ocean Literacy: Marine Science Education And Training To Ensure Australia's Blue Future, Prue Francis, Rachel Kelly, Louise Swanson, Tanveer M. Adyel, Benjamin Arthur, Kirsten Benkendorff, Melanie J. Bishop, Helen Bostock, Marnie L. Campbell, Emma Church, Corrine Condie, Vaibhavi Dwivedi, Michelle Dyer, Matthew England, Liam Fullbrook, Charlie Huveneers, Malcolm Johnson, Brianna Le Busque, Rebecca R. Mcintosh, Amelie Meyer, Benjamin Mos, Jana Mrazova, Allyson O'Brien, Gretta T. Pecl, Amandine Schaeffer, Rebecca J. Shellock, Grant A. Smith, Scott Smithers, Ana Vila-Concejo, Graham Wood

Research outputs 2022 to 2026

This white paper sets out a national vision for advancing ocean literacy in Australia and outlines the role of marine science in fostering an informed, engaged society capable of addressing the challenges and opportunities of our changing oceans. As environmental pressures intensify, and marine resource demands increase, Australians’ capacity to engage with ocean issues, understand risks and opportunities, and participate in marine decision-making has never been more urgent. Marine science will play a central role in building ocean literacy by delivering credible, actionable science, and strengthening education and training systems that enhance understanding of, and connection to, the ocean. Our …

Human-Centered Governance Of Climate Resilience: Integrating Sustainability, Equity, And Mental Health, Chelcee A. Pangerl

Graduate Studies Theses and Dissertations 2026

This dissertation examines how sustainability and resilience are defined, implemented, and experienced across three levels of climate governance: household perception, community experience, and federal policy. Climate resilience is often evaluated through infrastructure performance, emissions targets, restoration timelines, and preparedness systems, yet these measures do not fully capture how residents experience uncertainty, support, equity, and mental health. To address this gap, the dissertation develops and applies the Integrated Policy Framework for Sustainability and Resilience (IPFSR). IPFSR organizes six domains into three functional categories: policy outcomes, human-centered dimensions, and implementation mechanisms. Sustainability and operational/physical resilience are treated as policy outcomes; mental health …

Quantification Of Illicit And Prescription Drug Residues In Pasteurized Donor Human Milk: A Comprehensive Analytical Approach, Michelle Brenner, Kaytlin Krutsch, Ashlynn Baker, Dhavalkumar Patel, Palika Datta

Department of Pediatrics Faculty Publications

Objective

To assess the risk of infant exposure to illicit and prescription drug residues, from infant-ready, pooled, pasteurized donor human milk (PDHM) provided by healthy, screened, voluntary non-remunerated donors to a not-for-profit milk bank.

Study Design

A total of 150 pooled samples, representing 742 donor contributions, were analyzed for 15 illicit and prescription drug analytes using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Detected concentrations were evaluated for clinical significance.

Result

All 150 PDHM samples tested negative for residues of marijuana, amphetamines, benzodiazepines, fentanyl, hydrocodone, and morphine. Three samples (2%) contained trace amounts of oxycodone (< 0.6 parts per billion), yielding exposures over 455 times lower than established standards for infant safety (Relative Infant Dose: < 0.022%; standard safety threshold 10%).

Conclusion

Comprehensive analysis detected no clinically …

Endothelin-1 In The Failing Fontan: Pathobiology, Precision Therapeutics, And Future Trial Design, Iman Maiza

Department of Pediatrics Faculty Publications

The Fontan circulation, devised as definitive palliation for single-ventricle congenital heart disease, imposes systemic venous hypertension, loss of pulmonary arterial pulsatility, and restricted preload reserve. These hemodynamic trade-offs progressively injure the pulmonary vasculature, liver, and lymphatic system, producing late morbidities including elevated pulmonary vascular resistance, Fontan-associated liver disease (FALD), protein-losing enteropathy, and arrhythmias. Endothelin-1 (ET-1), a potent vasoconstrictor and profibrotic mediator, plausibly unifies these complications. Mechanistic studies demonstrate ET-1 upregulation in failed Fontan lungs, activating PLC–Ca²⁺, RhoA/ROCK, and MAPK/ERK cascades to drive vasoconstriction and remodeling. In cirrhotic livers, ET-1 localizes to stellate cells, promoting contraction and fibrogenesis, mechanisms biologically relevant …

Vape Counseling At Pediatric Practices: The Rethink Vape Toolkit, Paul T. Harrell, Ann L. Edwards, Natasha K. Sriraman, Rebecca J. Slimak, Anisha S. Vanka, Amy C. Paulson, Kelli J. England

Department of Pediatrics Faculty Publications

Introduction:

E-cigarettes (Vapes) represent the most common form of tobacco used by adolescents, with one out of every 29 (3.5%) middle school students and one in every 13 (7.8%) of high school students vaping daily. This project aimed to increase vape screening and prevention education in youth visits at pediatric practices, to increase provider comfort with the topic of vaping, and to evaluate this educational process.

Methods:

A provider training and resource modules (talking points, billing codes, and shareable parent/teen-tailored resources) were developed. Providers (N = 32) completed an anonymous pre/postsurvey regarding their knowledge, comfort levels, barriers, and practices related …

Confessions In Cases Of Child Physical Abuse - A Capnet Study, Margaret R. Russell, Antoinette L. Laskey, Henry T. Puls, Suzanne P. Starling, Joanne N. Wood, Daniel M. Lindberg, Nancy S. Harper, Caitlin R. Mcnamara, Angela N. Bachim, Farah W. Brink, Lori D. Frasier, James D. Anderst, Porcia Vaughn, Kristine A. Campbell

Department of Pediatrics Faculty Publications

Objective

Prior research on confessions of physical abuse (PA) has explored mechanisms of injury. Little is known about conditions supporting a confession of abuse or how confessions may influence case outcomes.

Methods

This cross-sectional study of suspected PA in children age < 10 years at 10 centers participating in CAPNET, a multicenter child PA research network, included children with in-person Child Abuse Pediatrics (CAP) consultations between Feb 2021-Dec 2022 and excluded children without injury. Our focus was a confession of inflicted injury known to the CAP during clinical involvement. We compared child and clinical characteristics, out-of-home (OOH) placements, and arrests between cases with and without confessions. Multivariable models using generalized estimating equations (GEE) produced adjusted predicted probabilities (APP) clustering by CAPNET site.

Results

Confessions were known to CAPs in 115/4297 (2.7%) cases, with significant site variability. In a multivariable GEE model, confessions were more likely in cases with injuries with high-specificity for abuse (APP 6.0% vs 1.5%, p< 0.001), near-fatality (APP 5.5% vs 2.3%, p< 0.001), and older children (APP 4.8% vs 2.5%, p = 0.025). OOH placements and arrests were more common in cases with confessions. CAP awareness of confessions, OOH placements, and arrests did not follow racial or ethnic patterns seen in the US child welfare system. Lower socioeconomic status was associated with OOH placements and arrests but not CAP awareness of confessions.

Conclusions

Our findings highlight differences in case characteristics and outcomes where a confession is known to the CAP and raise questions about agency …

Causal Effect Estimates Of Online E-Cigarette Marketing Exposure On Future E-Cigarette Harm Perception And Use, Paul T. Harrell, Nicholas T. Williams, Kara E. Rudolph, Rachel Ayala Guzman, Ateeqa Ijaz, Nicole Rychagov, Aaron Null, Silvia S. Martins

Department of Pediatrics Faculty Publications

Background

Globally, over 10 million youth use e-cigarettes; United States use, in particular, dramatically rose in the late 2010's, exceeding year-over-year increases from any other substance in over four decades. This rise has been partially attributed to youth online e-cigarette marketing exposure, but has not been appropriately studied.

Methods

We examined youth data from the Population Assessment of Tobacco and Health (PATH) spanning the dramatic increase period (Waves 4, 4.5, and 5; 2016-2019). We estimated average risk differences (RD) for Wave 5 e-cigarette harmfulness perception and use comparing all youth versus no youth reporting past-month online e-cigarette marketing exposure in …

Bortezomib And Vorinostat In Combination With Mitoxantrone, Dexamethasone, And Pegasparaginase During Induction And Reinduction For Infants With Acute Lymphoblastic Leukaemia: A Multicentre Single-Arm Phase 1/2 Study, Tanja A. Gruber, Sima Jeha, Rebecca J. Deyell, Victor Lewis, Bill H. Chang, Eric J. Lowe, Jamie Frediani, Catherine Vezina, Bruno Michon, Michael Richards, Erin H. Breese, Thai-Hoa Tran, Norman Lacayo, Christine Bolen, Sunil Desai, Jennifer L. Pauley, Minxuan Huang, Emily Ashcraft, Cheng Cheng, Kirk R. Schultz, Linda Stork, Krysta Schlis, Van T. Huynh, Nathan Gossai, Yoav H. Messinger, Henrique Bittencourt, Terzah M. Horton, Uma Athale, Duncan Stearns, Deborah Schiff, Paul S. Gaynon

Department of Pediatrics Faculty Publications

Background: Acute lymphoblastic leukaemia in infants remains a therapeutic challenge. In preclinical studies we previously identified bortezomib and vorinostat as active agents against KMT2A rearranged (KMT2Ar) leukaemia. The aim of this study was to determine the tolerability of incorporating bortezomib and vorinostat into an acute lymphoblastic leukaemia-chemotherapy backbone for newly diagnosed infants with acute lymphoblastic leukaemia both with and without KMT2Ar.

Methods: In this single-arm phase 1/2 study conducted at 18 hospitals in the USA and Canada, we enrolled patients aged 1 year or younger at the time of diagnosis with newly diagnosed acute lymphoblastic leukaemia or undifferentiated leukaemia (with …

Incorporating New Guidelines Into School-Based Asthma Management, Jessica Michala Jindra, Angela Duff Hogan

Department of Pediatrics Faculty Publications

Purpose of the Review

The aim of this review is to identify barriers and provide solutions to the implementation of inhaled corticosteroid-formoterol as rescue therapy within schools.

Recent findings

GINA guidelines in 2019 and NAEPP in 2020 recommended inhaled corticosteroids combined with formoterol for a rescue inhaler over the traditional short-acting beta-agonist.

Summary

The findings discussed in this article describe the barriers to the implementation of inhaled corticosteroids combined with formoterol for a rescue inhaler in school systems. Traditional asthma action plans, school nursing and parental education, and differences in dosing are some barriers identified. This paper provides solutions for …

35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano

Department of Pediatrics Faculty Publications

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well …