Digital Commons Network^™

Genai And Repowereu: A Legal Framework For The Digital Transformation Of The Eu Energy Systems, Francesco Spera

Yearbook of Antitrust and Regulatory Studies

This contribution examines the potential and challenges of utilising AI, particularly generative AI, to accelerate the energy transition. To achieve this, the study considers the application of GenAI within the REPowerEU framework. The plan highlights the transformative role of digital technologies such as AI, IoT, data analytics, and cloud computing in orchestrating energy assets and improving grid management. In this context, GenAI has emerged as a revolutionary paradigm, enhancing system intelligence and efficiency. The paper assesses the deployment of GenAI under the REPowerEU legal framework, including the AI Act and sector-specific energy legislation. The contribution identifies the dual legal basis …

Staff Education To Improve Medication Adherence Among Nurses, Philip Nkemgang

Walden Dissertations and Doctoral Studies

Medication nonadherence among individuals with severe mental illness (SMI) contributes to relapse, hospital readmissions, and poor patient outcomes. Psychiatric nurses are central to promoting adherence, yet many lack standardized, evidence-based training. This Doctor of Nursing Practice project evaluated the effect of a structured nurse education program on medication adherence strategies, including psychoeducation and motivational interviewing, on nurses’ knowledge and confidence. Using the Johns Hopkins nursing evidence-based practice model, an online educational intervention was developed and implemented with 18 psychiatric nurses. Pre- and post-education surveys measured changes in knowledge and self-reported confidence, with data analyzed using descriptive statistics. Results demonstrated significant …

Staff Education To Improve Detection And Treatment Of Adult Adhd In An Outpatient Psychiatric Clinic, Eveline Manyie Fohtung

Walden Dissertations and Doctoral Studies

Summary Adult attention-deficit/hyperactivity disorder (ADHD) remains significantly underdiagnosed in outpatient psychiatric settings despite its substantial impact on functioning and long-term mental health outcomes. At the project site, inconsistent screening practices, limited clinician familiarity with DSM-5-TR adult diagnostic criteria, and variable application of the Adult ADHD Self-Report Scale (ASRS) contributed to delayed or missed diagnoses, representing a clear practice gap. This Doctor of Nursing Practice (DNP) project implemented a structured, nurse-led staff education program to improve clinician knowledge, diagnostic accuracy, and standardized workflow adoption for adult ADHD screening using the ASRS. Guided by national evidence-based guidelines, the intervention emphasized DSM-5-TR criteria, …

Executive Summary: Clinical Practice Guideline Improving Medication Adherence For Adult Patients With Mental Illness, Regina Bryant Norville

Walden Dissertations and Doctoral Studies

Medication nonadherence among adults with mental illness remains a persistent problem in outpatient behavioral health care and contributes to psychiatric relapse, emergency department utilization, preventable hospitalizations, increased healthcare costs, and reduced quality of life. The purpose of this Doctor of Nursing Practice (DNP) project was to develop and obtain expert panel approval of an evidence-based clinical practice guideline (CPG) to improve medication adherence among adults with mental illness receiving outpatient behavioral health services. A comprehensive review of peer-reviewed literature from 2019 to 2025 was conducted using CINAHL, PubMed, and ScienceDirect to identify effective adherence-focused interventions, including nurse-led strategies, structured psychoeducation, …

Staff Education To Stop The Bleed Training, Sherron L. Butler

Walden Dissertations and Doctoral Studies

Uncontrolled hemorrhage remains a leading cause of preventable mortality, and timely intervention is critical to improving patient outcomes. The purpose of this Doctor of Nursing Practice staff education project was to evaluate the effect of a standardized Stop the Bleed (STB) education program on emergency department and outpatient clinic nursing staff readiness and confidence in managing hemorrhage emergencies. A pre- and post-education design was used to assess changes in participants’ knowledge, confidence, and technical proficiency related to hemorrhage-control skills, including tourniquet application, wound packing, and direct pressure techniques. Data were collected using pre- and post-training surveys and skills-demonstration assessments and …

Staff Education For Timely Sepsis Intervention At The Medical Center, Latonya Summers-Oliver

Walden Dissertations and Doctoral Studies

This project developed a staff education program to clarify the concept of “time zero,” essential for timely sepsis intervention, in alignment with the SEP-1 core measure by CMS, which prescribes evidence-based treatment bundles within specific time frames. Aiming to improve staff knowledge in sepsis identification, treatment, and management, the program incorporated a literature review supporting educational strategies that enhance mortality rates and clinical outcomes. Using pre- and posttest assessments, the study demonstrated significant improvements in staff knowledge following targeted education on sepsis recognition and timely management. The findings underscore the importance of standardized, accessible training programs to improve clinical response, …

Lgbtq+ Cultural Competency Training For Mental Health Care Workers, Shyla Noelle Herndon-Dye

Walden Dissertations and Doctoral Studies

The purpose of the staff education project was to address a noticeable gap in training regarding lesbian, gay, bisexual, transgender, and queer (LGBTQ+) cultural competencies for the multidisciplinary mental health care workers of an inpatient child and adolescent psychiatry unit. LGBTQ+ individuals commonly encounter discriminatory barriers to care, resulting in mental health disparities and medical distrust; thus, mental health care workers must engage in professional allyship and improve their capability to sufficiently care for this population. The practice question that guided this project was the following: Will a staff education program designed to educate multidisciplinary mental health care workers on …

Staff Education Program To Improve Pediatric Medication Adherence Knowledge In Primary Care, Coby Anderson

Walden Dissertations and Doctoral Studies

This Doctor of Nursing Practice project was focused on a staff education program aimed at addressing the knowledge gaps of primary healthcare providers regarding pediatric medication adherence. Nonadherence among pediatric patients is a significant issue leading to adverse health outcomes and increased healthcare costs. The project underscores the necessity of enhancing provider knowledge and communication skills, alongside implementing systematic strategies to promote adherence. My objective with the project was to elevate primary healthcare providers’ understanding and practical application of pediatric adherence techniques through targeted, evidence-based education. I developed the practice-focused question to examine whether this tailored staff education could bolster …

Oncology Nurses’ Experience In Screening Informal Caregivers Of Colorectal Cancer Patients For Distress And Supportive Care, Nicole N. Feldleyfer

Walden Dissertations and Doctoral Studies

This study explored how informal caregivers of colorectal cancer (CRC) gain access to supportive care services at integrated cancer care institutions. Although supportive care aims to improve the quality of life for patients and caregivers, there is limited research on how informal caregivers participate in distress screening, and no standard process exists across settings. This study used a qualitative phenomenological approach to explore the lived experiences of 10 oncology nurses with screening informal caregivers for distress and referring them to supportive care within integrated cancer care institutions. The Global Supportive Care Framework for Cancer Care served as the theoretical framework …

Exploring The Impact Of Childhood Sexual Abuse On Self-Esteem And Interpersonal Trust In African American Women, Elizabeth Omorodion

Walden Dissertations and Doctoral Studies

Although childhood sexual abuse (CSA) is known to affect survivors’ subsequent self- esteem and interpersonal trust levels, its long-term impacts among African American women were not fully understood. The purpose of this qualitative phenomenological study, which was grounded in attachment theory and trauma theory, was to explore how CSA shapes African American women’s self-esteem, interpersonal trust, and healing processes in adulthood. To answer the study’s seven research questions, semistructured interviews were conducted with eight African American women. The use of Braun and Clarke’s reflexive thematic analysis approach yielded seven themes: (a) impaired trust, (b) disrupted self-esteem, (c) resilience and strength …

General And Special Education Teachers’ Perceptions Of Challenges In Inclusive Secondary College Preparatory Science Courses, Jennifer Wilson

Walden Dissertations and Doctoral Studies

The problem that was addressed through this study is that secondary coteachers struggle to support students with disabilities in inclusionary college preparatory science classes. Grounded in Bandura’s theory of collective agency and supported by Pratt’s framework for achieving symbiosis, the purpose of this study was to explore secondary coteachers’ experiences and challenges as well as their perceptions of collaboration and professional development opportunities related to coteaching in inclusive college preparatory science classrooms in the Mid-Atlantic region of the United States. For this basic qualitative design, semistructured interviews were conducted with 10 secondary college preparatory science coteachers. The data were analyzed …

Antidiabetic Potential Of Mentha Piperita Essential Oil: Gc–Ms Profiling, In Vitro, In Vivo And In Silico Analyses, Elhafnaoui Lanez, Yahia Bekkar, Lotfi Bourougaa, Mohammed Larbi Benamor, Rania Bouraoui, Ouafa Boudebia, Aicha Adaika, Kaouther Nesba, Housseyn Chaoua, Lazhar Bechki, Touhami Lanez, Huda Alsaeedi, Mikhael Bechelany, Ahmed Barhoum

Research Outputs: 2025-Present

In this study, Mentha piperita essential oil (EO) antidiabetic activity was thoroughly investigated using a multidisciplinary approach. Gas chromatography–mass spectrometry (GC–MS) identified some key bioactive compounds, including pulegone, α-terpineol, borneol, linalool acetate, menthone, eucalyptol, and trans-sabinene hydrate. Their relative percentages in the EO (>1 % w/w) were indicative of biological importance. In vitro enzyme inhibitory assays displayed strong inhibitory effects of the EO on the carbohydrate-hydrolyzing enzymes α-amylase and α-glucosidase and stronger inhibitory action than the standard antidiabetic compound acarbose. In vivo research in diabetic rats induced by alloxan monohydrate reaffirmed the hypoglycemic effect of the EO with the …

Isaiha Duckket V. The State Of Nevada, 142 Nev. Adv. Op. 9 (Feb. 05, 2026), Adrienne Jack-Sands

Nevada Supreme Court Summaries

In Duckket v. State, the Supreme Court of Nevada found no error in allowing a criminal defendant to represent himself despite multiple competency evaluations before and during trial, nor was his right to a speedy trial infringed when none of the delays were caused by the State.

Evidence-Based Team Intervention To Reduce Diagnostic Errors In Anaemia And Ckd Diagnoses In Primary Care: Protocol For A Stepped-Wedge Cluster Rct, Zhanna Novikov, Nikhilesh Mehra, Xiao Li, Rebecca Wells, Madelene Ottosen, Kevin Hwang, Elenir B C Avritscher, Charles Green, Kyung Hyun Lee, Xochitl Oguin, Mariesa Janecka, Mary Espinoza, Bolanle Adebowale, Alejandro Araya, Amer Wahed, Eric Thomas

Faculty, Staff and Student Publications

Introduction: Diagnostic errors in primary care are common, particularly in the interpretation and follow-up of abnormal haemoglobin (Hgb) and estimated glomerular filtration rate (eGFR) results. These errors frequently result in missed or delayed diagnoses of serious conditions such as anaemia and chronic kidney disease. This protocol describes a stepped-wedge cluster randomised controlled trial designed to evaluate a novel, evidence-based, team-based intervention aimed at improving diagnostic safety and efficiency.

Methods and analysis: The study will be conducted across 12 University of Texas Physicians (UTPs) primary care clinics in Houston, Texas, USA. Adult patients (≥18 years) with newly identified abnormal Hgb or …

Mackenzie River Freshwater Controls Early Sea Ice Formation In The Eastern Beaufort Sea, M. J. Zahn, S. Fournier, I. G. Fenty, M. Steele, M. Wood, P. Gaube

Faculty Research, Scholarly, and Creative Activity

Arctic sea ice plays a critical role in Earth's climate system, and as it continues to thin and retreat, understanding the processes driving its variability is increasingly important. Using satellite data and a coupled ocean–sea ice model, we examined how freshwater from the Mackenzie River influences fall sea ice formation in the Beaufort Sea. An “ice bridge” between the coast and offshore ice edge consistently forms over the river's freshwater plume, with its location and extent varying interannually with freshwater distribution. Regions influenced by the plume experienced sea ice onset an average of 3 weeks earlier than adjacent, saltier waters. …

Primary Care Providers' Perspectives On Telehealth Medicare Annual Wellness Visits For Older Adults In A Midwestern Health System, Vaibhavi Mone, Paul Estabrooks, Jane Potter, Hongmei Wang, Jungyoon Kim

Health Services and Informatics Research

Background

Medicare annual wellness visits (AWVs) are vital for older adults' preventive care, which was transitioned to telehealth modalities during COVID-19. This study examined primary care providers' perceptions of telehealth-delivered AWVs and explored the factors influencing telehealth implementation using the Practical Robust Implementation and Sustainability Model (PRISM).

Participants and Setting

Twenty-five primary care providers from eight clinics within an integrated health system in the Midwestern United States were interviewed. Eligibility required having conducted at least one telehealth AWV for patients aged 65 or older between March 2023 and October 2023.

Methods

Semi-structured interviews lasting 30–45 min were conducted using purposeful …

Digital Disruption And Karawitan Recordings: Paradigm Shifts, Aesthetic Challenges, And Opportunities For Cultural Preservation, Iwan Budi Santoso, Bagong Pujiono, Darno Darno

Bahasa dan Seni: Jurnal Bahasa, Sastra, Seni, dan Pengajarannya

This article explores how digital recording practices, amid contemporary technological transformation, rearticulate the musical meaning of karawitan, reshape listening experience, and reorganize its modes of cultural circulation. The study is situated within broader scholarly debates on digital mediation, particularly concerning the shifting relationship between recorded sound and the socio-spatial and ritual contexts that have historically constituted karawitan performance. Using a descriptive qualitative case-study approach, the research draws on in depth interviews with musicians (pengrawit), scholars, distributors, and listeners, supported by observations of recording environments, patterns of online circulation, archival sources, and indicators of platform based distribution. The findings indicate that …

Exploring The Landscape Of Ai In English Language Teaching: A Comprehensive Bibliometric Analysis, Zuliati Rohmah, Aura Bunga Tauhid

Bahasa dan Seni: Jurnal Bahasa, Sastra, Seni, dan Pengajarannya

This study provides a comprehensive bibliometric analysis of Artificial Intelligence (AI) applications in English Language Teaching (AI-ELT), focusing on global research trends, influential authors, and emerging themes from 1986 to 2024. The findings reveal a significant surge in AI-ELT publications since 2019, driven by technological advancements, the COVID-19 pandemic, and the growing integration of adaptive learning systems, natural language processing tools, and AI-driven chatbots. Notably, China leads in research output and citation impact, followed by contributions from Saudi Arabia, Indonesia, and the United States, underscoring regional disparities and opportunities for global collaboration. Key trends highlight the dominance of keywords like …

Fructosamine And Hba1c For Monitoring Diabetes In Pregnancy: Complementary Or Competing?, Yosra Htira, Chaima Jemai, Emna Fennira, Zohra Hadj Ali, Olfa Lajili, Imen Hedfi, Jihene Bettaieb, Faika Ben Mami

Sultan Qaboos University Medical Journal

Objectives: This study aimed to perform a comparative evaluation of glycaemic control using fructosamine and glycated haemoglobin (HbA1c) and to investigate the correlations between the means of these biomarkers and mean glycaemia in pregnant women. Methods: This prospective longitudinal study was conducted from January to December 2020 and included pregnant women with pregestational diabetes, recruited at the National Institute of Nutrition of Tunis, Tunis, Tunisia, before 12 weeks of amenorrhoea and followed-up until delivery. Results: A total of 71 pregnant women were included in this study. Glycaemic values decreased over the course of pregnancy and patients achieved …

Staff Education To Reduce The Incidence Of Bias In Managing Patients With Opioid Use Disorder In A Rehabilitation Center, Almarie Alison Mclaren

Walden Dissertations and Doctoral Studies

This Doctor of Nursing Practice (DNP) project addressed stigma and implicit bias toward individuals with opioid use disorder (OUD) within a rehabilitation subacute care setting. OUD remains a significant public health concern and at the project site, inconsistent staff education was identified as a practice gap requiring intervention. The purpose of this practice-focused DNP project was to evaluate the impact of a structured staff education intervention on healthcare staff knowledge, attitudes, and confidence in caring for patients with OUD. The project was guided by a thorough evidence search. The project was implemented using brief, unit-based educational sessions delivered to interdisciplinary …

The Setd2 L1609p Mutation Found In Leukemia Disrupts Methyltransferase Activity And Reduces Histone H3k36 Trimethylation, Christina Michail, Jérémy Berthelet, Ariel E Mechaly, Linh-Chi Bui, Haopeng Yang, Duo Cai, Amira Al Mahi, Aowei Xie, Valeria Bisio, Valentina Sirri, Jean-Marie Dupret, Fabien Guidez, Ximing Xu, Nicolas Joly, Leslie Regad, Mireille Viguier, Frédérique Deshayes, Nicolas Dulphy, Michael R Green, Ahmed Haouz, Fernando Rodrigues Lima

Faculty, Staff and Student Publications

SETD2 is the primary methyltransferase responsible for generating H3K36me3, an epigenetic mark that is essential for transcriptional regulation and chromatin integrity. SETD2 mutations are frequently observed in various cancers and tend to cluster within its catalytic SET domain. Despite the clinical relevance of SETD2 missense mutations in cancer, their biochemical and structural consequences remain insufficiently characterized. Here, we present the enzymatic and structural characterization of the SETD2 L1609P mutant enzyme identified in leukemia. The L1609 residue is located in the SET domain within a conserved hydrophobic pocket that is involved in substrate H3K36 recognition. Interestingly, site-directed mutagenesis of residues within …

Recommendations From The Blue Ribbon Panel On Fluoroscopy Safety, Dustin A Gress, M Mahesh, Kevin W Dickey, John F Angle, D Duane Baldwin, Stephen Balter, Wayne Batchelor, Lisa Bruedigan, Christopher Davis, Deirdre Elder, R Paul Guillerman, Maged N Guirguis, David Hardwick, Carrie M Hayes, Jeremy J Heit, A Kyle Jones, Melissa Kirkwood, Andrew Kuhls-Gilcrist, Bonnie Martin-Harris, William W Mayo-Smith, Sarah E Mckenney, Richard Miguel, Donald L Miller, Eric Monroe, Kristi Moore, Thomas L Morgan, Kari J Nelson, Kathryn Petrovic, Shellie Pike, Carlos A Pino, Travis Prowant, Jonathan W Revels, Vinil Shah, Andrew Y Wang, David B Weiss, Darcy J Wolfman, Kevin A Wunderle, Jessica Zarzour, Michael E Zychowicz, Alan H Matsumoto

Faculty, Staff and Student Publications

There are many challenges associated with the safe use of fluoroscopy. These challenges include but are not limited to highly variable regulatory requirements, scope of practice concerns, inconsistent education and training, and lack of staff empowerment. Challenges are further compounded by the increasing use of fluoroscopy across a wide range of medical specialties. To facilitate consensus on how to address the issues, the ACR convened the multidisciplinary Blue Ribbon Panel on Fluoroscopy Safety (BRP-FS), with 32 organizations represented. The goal of the BRP-FS is to establish multi- and interspecialty consensus standards for the safe use of fluoroscopy in health care, …

Pain Prevalence And Pain Management At The End Of Life: Regional And Urban-Rural Differences From A National-Representative Survey Of Chinese Older Adults, Yaolin Pei, Xiang Qi, Zexi Zhou, Yifan Lou, Jing Wang, Yang Li, Bei Wu

Faculty, Staff and Student Publications

Background: Effective pain management is essential for improving quality of life at the end of life. However, challenges persist globally, particularly in China, where palliative care remains underdeveloped. This study investigates pain prevalence and the associations between pain severity, place of death, and the quality of pain management among older adults in China, with a focus on regional and urban-rural disparities.

Methods: We used data from the 2014, 2016, 2018, and 2020 waves of the China Longitudinal Aging Social Survey. The final sample included 1,525 older adults who died during the study period. We conducted OLS regression analyses to examine …

Green Technology: A Systematic Review Of Ai And Iot Solutions For A Sustainable Future, Nesma Abd El-Mawla, Mohamed A. Berbar, Nawal A. El-Fishawy, Mohamed A. El-Rashidy, Mahmoud Badawy

Mansoura Engineering Journal

Green technology offers a solution to the pressing environmental crisis. It can change the structure and generation of waste so as not to harm the earth, and people can become environmentally friendly. To address complex environmental challenges like climate change and pollution, innovative Artificial Intelligence (A.I.) and Internet of Things (IoT) solutions are essential. These technologies can help optimize resource use, reduce waste, and promote sustainable development. However, it's crucial to balance economic growth, social equity, and environmental protection when implementing green technologies. This survey paper systematically examines the landscape of Green Technology, focusing on its pivotal components: Measures of …

Religiosity And Ritual In The Novel Rangsang Tuban By Padmasusastra: Literary Anthropology Study, Anggra Dini, Endang Nurhayati, Suwardi Endraswara

Bahasa dan Seni: Jurnal Bahasa, Sastra, Seni, dan Pengajarannya

Rangsang Tuban by Padmasusastra offers a rich portrayal of Javanese social life through its depiction of traditions, religious practices, and ritual activities that shape the narrative and its characters. This study aims to examine the representation of Javanese religiosity and ritual in the novel and to explore its relevance to contemporary society. The novelty of this research lies in its analysis of ritual practices as expressions of Javanese religious syncretism, revealing interactions between formal religions and local spiritual traditions. Employing a qualitative descriptive method within a literary anthropology framework, this study analyzes textual data in the form of selected quotations …

The Representation Of Law Enforcement Authorities’ Performance In Nbc News Coverage Of The Debanhi Escobar Case: A Dialectical Relational Approach, Rachim Satria Wicaksana, Nurhayati Nurhayati, Istiqamah Idrus Sere

Bahasa dan Seni: Jurnal Bahasa, Sastra, Seni, dan Pengajarannya

NBC News, as an international media outlet, plays a significant role in shaping public perception and moral evaluation of social issues. Its coverage of the Debanhi Escobar case in Mexico has attracted widespread international attention, particularly in relation to the handling of feminicide by Law Enforcement Authorities. Within this context, the present study investigates how NBC News represents Law Enforcement Authorities in reporting the Debanhi Escobar case and how such representations construct moral and institutional evaluations. This study applies Fairclough’s Dialectical Relational Approach (DRA) to examine the relationship between textual strategies, social practices, and power relations embedded in media discourse. …

Environmental Graphic Design Of The Great Mosque Ornaments For Strengthening Demak City Branding As The City Of Wali, Agus Setiawan, Ahmad Akrom, Khamadi Khamadi, Khairul Mustaqin, Auria Farantika Yogananti

Bahasa dan Seni: Jurnal Bahasa, Sastra, Seni, dan Pengajarannya

This study explores the role of Environmental Graphic Design (EGD) derived from the ornamental heritage of the Great Mosque of Demak in strengthening Demak’s city branding as the “City of Wali” (Kota Wali). Motivated by the need for culturally grounded urban identity amid rapid modernization, the research examines how religious and historical visual elements can be translated into contemporary environmental design. The study adopts a descriptive qualitative approach informed by place branding and visual communication theory. Data were collected through field observations, visual documentation, interviews, and a literature review, followed by an analytical process that involved identifying local wisdom, interpreting …

Finding Meaning In A Historical Fiction Of Cold War: A Case Study Of Pamuntjak’S Question Of Red, Margihon Bayu Putra Kaumpungan

Bahasa dan Seni: Jurnal Bahasa, Sastra, Seni, dan Pengajarannya

The Cold War and its legacy in Southeast Asia, has been considered as one of the darkest parts of the region’s history including in Indonesia. Efforts to capture the painful memory of the Cold War had been established through various means including fictional storytelling. Among many literature discussing the dark history of the era, Laksmi Pamuntjak “Question on Red” had its distinctive presence since it was written in English. The utilization of English as a medium opens the door for English speaking readers to be able to dwell into a literature work that is considerably unfamiliar to their cultural context. …

Print, Pattern, Stick: Low–Cost Gecko–Inspired Adhesives Using Embedded Diffraction Structures, Motaz Hassan, Oluwafemi Fayomi, Ajay Mahajan, Joshua Faust

University Research

Gecko-inspired adhesives offer strong, reversible, and directionally tunable adhesion, yet fabrication methods often depend on cleanroom lithography or proprietary molds, limiting scalability and accessibility. This study presents a low-cost, modular fabrication strategy combining high-resolution digital light processing 3D printing with 1000 lines/mm optical diffraction gratings to create hierarchical elastomeric adhesives. The resulting structures feature macroscale micropillars and embedded sub-micron surface topography, enabling effective contact splitting without advanced microfabrication. Mechanical testing reveals a nonlinear increase in shear performance with contact area, with maximum shear forces exceeding 80 N at 103.2 cm2. Peel testing across varied angles and surface areas demonstrates anisotropic …

Bi-Allelic Variants In Neuronal Adhesion Molecule Astrotactin 1 Gene Astn1 Cause Diverse Neurodevelopmental Disorders, Jesse M Levine, Daniel G Calame, Riccardo Sangermano, Haowei Du, Ahmed Saad, Jasmin Lisfeld, Tatjana Bierhals, Jonas Denecke, Eyyup Uctepe, Merve Yoldas Celik, Ahmet Yesilyurt, Hilal Yildiz Er, Elif Yilmaz Gulec, Aziza Mushiba, Naif Almontashiri, Pawel Gawlinski, Wojciech Wiszniewski, Ender Karaca, Lama Alabdi, Davut Pehlivan, Dana Marafi, Maha S Zaki, Fowzan S Alkuraya, Joseph G Gleeson, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Kinga M Bujakowska, James R Lupski

Faculty, Staff and Students Publications

ASTN1 encodes astrotactin 1, a neuronal-glial ligand in the developing brain that promotes neuronal migration along radial glia in brain structures with laminar organization, such as the cerebral cortex, hippocampus, and cerebellum. In mouse models, disruption of Astn1 results in neuronal migration deficits, a mild reduction in cerebellar volume, and balance and coordination deficits. In humans, bi-allelic ASTN1 variants have been identified in nine individuals with neurodevelopmental disorders (NDDs) with or without brain malformations. ASTN1 additionally interacts with astrotactin 2 (ASTN2) to implement neuronal migration; ASTN2 deletions associate with NDDs with reduced penetrance. Here, we describe eighteen individuals with NDDs …