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2023

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Emotional Abuse: Strategies For Identifying And Reporting, Jill Bryant Mar 2023

Emotional Abuse: Strategies For Identifying And Reporting, Jill Bryant

Journal of Counseling Research and Practice

Abstract

This article discusses various definitions of emotional abuse, statute difficulties that do little to support an effective report, clinical identifiers and possible long-term outcomes of emotional abuse in children and adolescents. The article closes with suggestions for advocacy efforts to improve the current challenges to better serve youth and adolescents who have been affected by this type of child maltreatment. Readers will find suggested methods for better exploring the topic of emotional abuse in sessions with child and teen clients and proposed approaches to support a stronger report when living in a state with weak or ambiguous statutes.


An Ecological Perspective Of Intergenerational Trauma: Clinical Implications, Charmayne R. Adams, Ramona I. Grad, Matthew L. Nice Mar 2023

An Ecological Perspective Of Intergenerational Trauma: Clinical Implications, Charmayne R. Adams, Ramona I. Grad, Matthew L. Nice

Journal of Counseling Research and Practice

In this paper, the authors present information about both intergenerational trauma and an ecological case conceptualization model to assist counselors as they develop treatment plans and determine appropriate interventions. Bronfenbrenner’s Ecological model is introduced as a way to help professional counselors in a variety of settings explore a more holistic understanding of presenting problems. The authors use a case illustration to highlight how to implement an ecological framework with a client with Colombian heritage to better understand and address intergenerational trauma as an important aspect of treatment planning. The paper includes clinical examples, clinical resources, and implications for professional counselors, …


We Are Not The Alternative School. We Are The School With Alternatives., Lindsay Thompson, Ryan Maher, Cassie Crowder Mar 2023

We Are Not The Alternative School. We Are The School With Alternatives., Lindsay Thompson, Ryan Maher, Cassie Crowder

National Youth Advocacy & Resilience Conference

It is our goal to change the perceptions of alternative schools as a placement for “bad kids”, to a place where students gain the support needed to become successful in their home schools by looking through the lens of the effects of trauma and its impact on students.


Using Color With Care: An Exploration Of The Application Of Psychological Color Theory Within Language Classrooms, Mackenzie Wisneski Mar 2023

Using Color With Care: An Exploration Of The Application Of Psychological Color Theory Within Language Classrooms, Mackenzie Wisneski

Research in the Capitol

This study is a qualitative analysis of the instructional uses of color for social-emotional and academic assistance within language classrooms. Learners’ environment in relation to information acquisition and retention matters (Krashen, 1982; Maslow, 1970; Perry, 2006), and developing practices connecting color and emotion is beneficial for the psychological regulation of those within any environment (Güneş & Olguntürk, 2020). This is especially important for emergent bilingual students, as these learners are disproportionately exposed to additional academic, emotional, socio-economic, and cultural challenges (Benesch, 2012; Beyer, 2017; Heineke & Vera, 2021). Data comprise surveys and interviews of three K-12 public school teachers of …


Keynote: Building Belonging To Empower Staff And Students To Thrive, Joelle Hood Mar 2023

Keynote: Building Belonging To Empower Staff And Students To Thrive, Joelle Hood

National Youth Advocacy & Resilience Conference

Strong social connections strengthen our immune system, lower anxiety and depression, and even help us live longer. Additionally, people who feel connected are more empathetic, trusting, and cooperative. This engaging and interactive session will provide participants with research, strategies, and structures for building belonging and cultivating connection in the classroom, the staff room, at home, and in the community.


The Echo: March 6, 2023, Taylor University Mar 2023

The Echo: March 6, 2023, Taylor University

2022-2023 (Volume 110)

No abstract provided.


A Genetic Locus Complements Resistance To Bordetella Pertussis-Induced Histamine Sensitization., Abbas Raza, Sean A Diehl, Dimitry N Krementsov, Laure K Case, Dawei Li, Jason Kost, Robyn L Ball, Elissa J Chesler, Vivek M. Philip, Rui Huang, Yan Chen, Runlin Ma, Anna L Tyler, J Matthew Mahoney, Elizabeth P Blankenhorn, Cory Teuscher Mar 2023

A Genetic Locus Complements Resistance To Bordetella Pertussis-Induced Histamine Sensitization., Abbas Raza, Sean A Diehl, Dimitry N Krementsov, Laure K Case, Dawei Li, Jason Kost, Robyn L Ball, Elissa J Chesler, Vivek M. Philip, Rui Huang, Yan Chen, Runlin Ma, Anna L Tyler, J Matthew Mahoney, Elizabeth P Blankenhorn, Cory Teuscher

Faculty Research 2023

Histamine plays pivotal role in normal physiology and dysregulated production of histamine or signaling through histamine receptors (HRH) can promote pathology. Previously, we showed that Bordetella pertussis or pertussis toxin can induce histamine sensitization in laboratory inbred mice and is genetically controlled by Hrh1/HRH1. HRH1 allotypes differ at three amino acid residues with P


Technological University Dublin's Pathway To Embedding Sustainability In Food Degrees, Nemos And Beyond, Julie Dunne, Catherine Barry-Ryan, Cormac Mcmahon Mar 2023

Technological University Dublin's Pathway To Embedding Sustainability In Food Degrees, Nemos And Beyond, Julie Dunne, Catherine Barry-Ryan, Cormac Mcmahon

Presentations

The School of Food Science and Environmental Health, Technological University Dublin, commenced a journey to embed Sustainability in its modules and programmes in 2020 with a nationally funded project ‘Sustainable Food Curriculum Co-Create’. The project’s goal was to build capacity for integrating sustainability learning outcomes across Food programmes through educator professional development and co-creation with students. The CPD curriculum design involved several stakeholders in Education for Sustainable Development from across the Food System including enterprise and state organisations who advised on sector-specific sustainability issues, food experts from across several Schools, and sustainability experts from across the University and beyond. It …


A Simple Method For Quantifying Blastema Growth In Regenerating Planarians, Natali Campillo , '25, Danielle Ireland, Yashvi Patel , '24, Eva-Maria S. Collins Mar 2023

A Simple Method For Quantifying Blastema Growth In Regenerating Planarians, Natali Campillo , '25, Danielle Ireland, Yashvi Patel , '24, Eva-Maria S. Collins

Biology Faculty Works

Due to their strong regenerative capabilities, freshwater planarians are a well-suited model system for studying the effects of chemicals on stem cell biology and regeneration. After amputation, a planarian will regenerate the missing body parts within 1 to 2 weeks. Because planarians have a distinct head morphology that can be easily identified, head and eye regeneration has been a popular qualitative measure of toxicity. However, qualitative measures can only detect strong defects. Here, we present protocols for quantifying the rate of blastema growth to measure regeneration defects for assessment of chemical toxicity. Following amputation, a regenerative blastema forms at the …


Could The Altmetrics Wave Bring A Flood Of Confusion For Anatomists?, Jessica N Byram, Michelle D Lazarus, Adam B Wilson, Kirsten M. Brown Mar 2023

Could The Altmetrics Wave Bring A Flood Of Confusion For Anatomists?, Jessica N Byram, Michelle D Lazarus, Adam B Wilson, Kirsten M. Brown

Health Sciences Education Research

Altmetrics are non-traditional metrics that can capture downloads, social media shares, and other modern measures of research impact and reach. Despite most of the altmetrics literature focusing on evaluating the relationship between research outputs and academic impact/influence, the perceived and actual value of altmetrics among academicians remains nebulous and inconsistent. This work proposes that ambiguities surrounding the value and use of altmetrics may be explained by a multiplicity of altmetrics definitions communicated by journal publishers. A root cause analysis was initiated to compare altmetrics definitions between anatomy and medical education journal publishers' websites and to determine the comparability of the …


The Rider (2023-03-06), Verilu Infante Mar 2023

The Rider (2023-03-06), Verilu Infante

The Rider Archives

Vol.8 No.22


Do Current Pre-Exercise Fluid Recommendations For Athletes Need To Be Updated?: A Review, Samantha B. Kostelnik, Melinda W. Valliant Mar 2023

Do Current Pre-Exercise Fluid Recommendations For Athletes Need To Be Updated?: A Review, Samantha B. Kostelnik, Melinda W. Valliant

Faculty and Student Publications

Introduction: Maintaining adequate hydration throughout the day is extremely important, especially for the athletic population. While several recommendations have been developed to aid in timing (i.e., before, during and after exercise) and quantity of fluid intake, research has shown that approximately 70% of collegiate athletes arrive to practice in a dehydrated state. This review aims to identify the studies that have developed fluid protocols or utilized fluid recommendations for athletes prior to exercise.
Methods: Two databases and 13 search terms were used to find relevant articles.
Results: To date, several position papers, observational, and experimental (25 investigations total) studies that …


Nagase2: A Water-Loving Multifunctional Non-Van Der Waals Layered Selenogallate, Srikanth Balijapelly, Santhoshkumar Sundaramoorthy, Dibya Jyoti Mondal, Sanjit Konar, Nikolay Gerasimchuk, Aleksandr V. Chernatynskiy, Amitava Choudhury Mar 2023

Nagase2: A Water-Loving Multifunctional Non-Van Der Waals Layered Selenogallate, Srikanth Balijapelly, Santhoshkumar Sundaramoorthy, Dibya Jyoti Mondal, Sanjit Konar, Nikolay Gerasimchuk, Aleksandr V. Chernatynskiy, Amitava Choudhury

Physics Faculty Research & Creative Works

A Missing Member of Well-Known Ternary Chalcometallates, a Sodium Selenogallate, NaGaSe2, Has Been Synthesized by Employing a Polyselenide Flux and Stoichiometric Reaction. Crystal Structure Analysis using X-Ray Diffraction Techniques Reveals that It Contains Supertetrahedral Adamantane-Type Ga4Se10 Secondary Building Units. These Ga4Se10 Secondary Building Units Are Further Connected Via Corners to Form Two-Dimensional (2D) [GaSe2]∞- Layers Stacked Along the C-Axis of the Unit Cell, and the Na Ions Reside in the Interlayer Space. the Compound Has an Unusual Ability to Absorb Water Molecules from the Atmosphere or a Nonanhydrous …


Ohio University Faculty Senate Minutes March 6, 2023, Ohio University Faculty Senate Mar 2023

Ohio University Faculty Senate Minutes March 6, 2023, Ohio University Faculty Senate

Faculty Senate Minutes

No abstract provided.


Intouch Week Of March 6, 2023, New York Medical College Mar 2023

Risk Of Diabetic Retinopathy Between Sodium-Glucose Cotransporter-2 Inhibitors And Glucagon-Like Peptide-1 Receptor Agonists, Tzu-Yi Lin, Eugene Yu-Chuan Kang, Shih-Chieh Shao, Edward Chia-Cheng Lai, Sunir J. Garg, Kuan-Jen Chen, Je-Ho Kang, Wei-Chi Wu, Chi-Chun Lai, Yih-Shiou Hwang Mar 2023

Risk Of Diabetic Retinopathy Between Sodium-Glucose Cotransporter-2 Inhibitors And Glucagon-Like Peptide-1 Receptor Agonists, Tzu-Yi Lin, Eugene Yu-Chuan Kang, Shih-Chieh Shao, Edward Chia-Cheng Lai, Sunir J. Garg, Kuan-Jen Chen, Je-Ho Kang, Wei-Chi Wu, Chi-Chun Lai, Yih-Shiou Hwang

Wills Eye Hospital Papers

BACKGROUND: To compare risk of diabetic retinopathy (DR) between patients taking sodium-glucose cotransporter-2 inhibitors (SGLT2is) and those taking glucagon-like peptide-1 receptor agonists (GLP1-RAs) in routine care.

METHODS: This retrospective cohort study emulating a target trial included patient data from the multi-institutional Chang Gung Research Database in Taiwan. Totally, 33,021 patients with type 2 diabetes mellitus using SGLT2is and GLP1-RAs between 2016 and 2019 were identified. 3,249 patients were excluded due to missing demographics, age <40 >years, prior use of any study drug, a diagnosis of retinal disorders, a history of receiving vitreoretinal procedure, no baseline glycosylated hemoglobin, or no follow-up data. …


Paraquat, Parkinson's Disease, And Agnotology, Amit Ray, E. Ray Dorsey Mar 2023

Paraquat, Parkinson's Disease, And Agnotology, Amit Ray, E. Ray Dorsey

Articles

This commentary examines the controversial relationship between paraquat, a widely used herbicide, and Parkinson's disease through the lens of agnotology—the deliberate production of ignorance for commercial gain. Despite numerous animal and epidemiological studies linking paraquat to Parkinson's disease, its use in the United States doubled from 2013 to 2018. The authors reveal how the manufacturer allegedly employed tactics similar to the tobacco industry, including attempts to discredit scientific researchers and suppress unfavorable findings. While over 30 countries have banned paraquat due to health risks, the EPA reauthorized its use in 2021. The paper argues that internal company documents and emerging …


Phenotypic Plasticity In Circulating Tumor Cells Is Associated With Poor Response To Therapy In Metastatic Breast Cancer Patients, Evan N Cohen, Gitanjali Jayachandran, Hui Gao, Phillip Peabody, Heather B Mcbride, Franklin D Alvarez, Megumi Kai, Juhee Song, Yu Shen, Jie S Willey, Bora Lim, Vicente Valero, Naoto T Ueno, James M Reuben Mar 2023

Phenotypic Plasticity In Circulating Tumor Cells Is Associated With Poor Response To Therapy In Metastatic Breast Cancer Patients, Evan N Cohen, Gitanjali Jayachandran, Hui Gao, Phillip Peabody, Heather B Mcbride, Franklin D Alvarez, Megumi Kai, Juhee Song, Yu Shen, Jie S Willey, Bora Lim, Vicente Valero, Naoto T Ueno, James M Reuben

Faculty, Staff and Student Publications

Circulating tumor cells (CTCs) are indicators of metastatic spread and progression. In a longitudinal, single-center trial of patients with metastatic breast cancer starting a new line of treatment, a microcavity array was used to enrich CTCs from 184 patients at up to 9 timepoints at 3-month intervals. CTCs were analyzed in parallel samples from the same blood draw by imaging and by gene expression profiling to capture CTC phenotypic plasticity. Enumeration of CTCs by image analysis relying primarily on epithelial markers from samples obtained before therapy or at 3-month follow-up identified the patients at the highest risk of progression. CTC …


Microbiome Influencers Of Checkpoint Blockade-Associated Toxicity, Yinghong Wang, Robert R Jenq, Jennifer A Wargo, Stephanie S Watowich Mar 2023

Microbiome Influencers Of Checkpoint Blockade-Associated Toxicity, Yinghong Wang, Robert R Jenq, Jennifer A Wargo, Stephanie S Watowich

Faculty, Staff and Student Publications

Immunotherapy has greatly improved cancer outcomes, yet variability in response and off-target tissue damage can occur with these treatments, including immune checkpoint inhibitors (ICIs). Multiple lines of evidence indicate the host microbiome influences ICI response and risk of immune-related adverse events (irAEs). As the microbiome is modifiable, these advances indicate the potential to manipulate microbiome components to increase ICI success. We discuss microbiome features associated with ICI response, with focus on bacterial taxa and potential immune mechanisms involved in irAEs, and the overall goal of driving novel approaches to manipulate the microbiome to improve ICI efficacy while avoiding irAE risk.


Investigating How Tacit Knowledge Management Inclination And Explicit Marketing Agendas Impact Business Success., Christine Aliyu Makama, Douglas Johansen Dr Mar 2023

Investigating How Tacit Knowledge Management Inclination And Explicit Marketing Agendas Impact Business Success., Christine Aliyu Makama, Douglas Johansen Dr

AMTP Proceedings 2023

This study empirically tests the relationship between tacit knowledge management inclination, internal explicit marketing agendas and external explicit marketing agendas and how they act together to enhance business outcomes. This was done to fill in the gap in the body of knowledge on the dearth of empirical research on tacit knowledge management inclination and marketing orientation. Using the quantitative research method and purposive sampling technique, data were collected from 89 respondents with significant business and marketing experience through a well-structured questionnaire with closed-ended questions. Employing regression analysis, the hypotheses were tested, and the finding highlighted that tacit knowledge management inclination …


Qualification Of Hemophilia Treatment Centers To Enable Multi-Center Studies Of Gene Expression Signatures In Blood Cells From Pediatric Patients, Birgit M Reipert, Christoph J Hofbauer, Bagirath Gangadharan, Verena Berg, Elizabeth Donnachie, Shannon Meeks, Maria Elisa Mancuso, Joel Bowen, Deborah L Brown Mar 2023

Qualification Of Hemophilia Treatment Centers To Enable Multi-Center Studies Of Gene Expression Signatures In Blood Cells From Pediatric Patients, Birgit M Reipert, Christoph J Hofbauer, Bagirath Gangadharan, Verena Berg, Elizabeth Donnachie, Shannon Meeks, Maria Elisa Mancuso, Joel Bowen, Deborah L Brown

Faculty, Staff and Student Publications

Hemophilia A is a rare congenital bleeding disorder caused by a deficiency of functionally active coagulation factor VIII (FVIII). Most patients with the severe form of the disease require FVIII replacement therapies, which are often associated with the development of neutralizing antibodies against FVIII. Why some patients develop neutralizing antibodies while others do not is not fully understood. Previously, we could demonstrate that the analysis of FVIII-induced gene expression signatures in peripheral blood mononuclear cells (PBMC) obtained from patients exposed to FVIII replacement therapies provides novel insights into underlying immune mechanisms regulating the development of different populations of FVIII-specific antibodies. …


Mechanosensitive Membrane Proteins: Usual And Unusual Suspects In Mediating Mechanotransduction, Miriam B Goodman, Elizabeth S Haswell, Valeria Vásquez Mar 2023

Mechanosensitive Membrane Proteins: Usual And Unusual Suspects In Mediating Mechanotransduction, Miriam B Goodman, Elizabeth S Haswell, Valeria Vásquez

Faculty, Staff and Student Publications

This Viewpoint, which accompanies a Special Issue focusing on membrane mechanosensors, discusses unifying and unique features of both established and emerging mechanosensitive (MS) membrane proteins, their distribution across protein families and phyla, and current and future challenges in the study of these important proteins and their partners. MS membrane proteins are essential for tissue development, cellular motion, osmotic homeostasis, and sensing external and self-generated mechanical cues like those responsible for touch and proprioception. Though researchers' attention and this Viewpoint focus on a few famous ion channels that are considered the usual suspects as MS mechanosensors, we also discuss some of …


Perceived Gender Norm Adherence In Women As Function Of Sex-Typical Facial Features And Surname Decisions, Kelsey Drea Mar 2023

Perceived Gender Norm Adherence In Women As Function Of Sex-Typical Facial Features And Surname Decisions, Kelsey Drea

Dissertations

Women’s retention of their surname following marriage has become increasingly common despite pervasive stereotypes of this stereotype as leading to relational failure. It could be possible that women’s physical appearance could buffer them from these stereotypes, particularly if that appearance is sex-typical. This study investigated how feminized facial structures could buffer women from negative perceptions of their abilities in relationships. Participants assessed a woman described as having changed or kept her surname. This woman’s face varied in her sex typicality (i.e., feminized, masculinized, unaltered). Feminine women appeared more modest when they kept their surname. Hostile sexism predicted less relational success …


16th Annual Research In The Capitol [Program], March 6, 2023, University Of Northern Iowa. University Honors Program. Iowa State University. Honors Program. University Of Iowa. Honors Program. Mar 2023

16th Annual Research In The Capitol [Program], March 6, 2023, University Of Northern Iowa. University Honors Program. Iowa State University. Honors Program. University Of Iowa. Honors Program.

Research in the Capitol Programs

Program of research presentations given at the Capitol by students from the University of Northern Iowa, Iowa State University, and the University of Iowa.


Planning For The Lake Izabal Basin Research Endeavor (Libre) Continental Scientific Drilling Project In Eastern Guatemala, Jonathan Obrist-Farner, Andreas Eckert, Peter M. J. Douglas, Liseth Perez, Alex Correa-Metrio, Bronwen L. Konecky, Thorsten Bauersachs, Susan Zimmerman, Stephanie Scheidt, Mark Brenner, Steffen Kutterolf, Jeremy Maurer, Omar Flores, Caroline M. Burberry, Anders Noren, Amy Myrbo, Matthew Lachniet, Nigel Wattrus, Derek Gibson, The Libre Scientific Team Mar 2023

Planning For The Lake Izabal Basin Research Endeavor (Libre) Continental Scientific Drilling Project In Eastern Guatemala, Jonathan Obrist-Farner, Andreas Eckert, Peter M. J. Douglas, Liseth Perez, Alex Correa-Metrio, Bronwen L. Konecky, Thorsten Bauersachs, Susan Zimmerman, Stephanie Scheidt, Mark Brenner, Steffen Kutterolf, Jeremy Maurer, Omar Flores, Caroline M. Burberry, Anders Noren, Amy Myrbo, Matthew Lachniet, Nigel Wattrus, Derek Gibson, The Libre Scientific Team

Department of Earth and Atmospheric Sciences: Faculty Publications

As Earth’s atmospheric temperatures and human populations increase, more people are becoming vulnerable to natural and human-induced disasters. This is particularly true in Central America, where the growing human population is experiencing climate extremes (droughts and floods), and the region is susceptible to geological hazards, such as earthquakes and volcanic eruptions, and environmental deterioration in many forms (soil erosion, lake eutrophication, heavy metal contamination, etc.). Instrumental and historical data from the region are insufficient to understand and document past hazards, a necessary first step for mitigating future risks. Long, continuous, well-resolved geological records can, however, provide a window into past …


Quantifying The Soundscape: How Filters Change Acoustic Indices, Emilia B. Hyland, Annie Schulz, John E. Quinn Mar 2023

Quantifying The Soundscape: How Filters Change Acoustic Indices, Emilia B. Hyland, Annie Schulz, John E. Quinn

Open Access Fund Publications

Monitoring biodiversity can be time consuming and costly. Automated recording units (ARUs) have rapidly emerged as an efficient and cost-effective tool for measuring biodiversity. Acoustic indices are one output from recordings from ARUs that can be quantified to serve as an ecological indicator for biodiversity. However, there is a lack of guidance on what acoustic filters to apply to these indices and when. To address this gap, we collected acoustic data from study locations spanning temperate and tropical forests, agricultural grasslands and croplands, and peri-urban development. We applied filters of 80, 500, 1000, and 2000 Hz to these data when …


A Gene Regulatory Network Approach Harmonizes Genetic And Epigenetic Signals And Reveals Repurposable Drug Candidates For Multiple Sclerosis, Astrid M Manuel, Yulin Dai, Peilin Jia, Leorah A Freeman, Zhongming Zhao Mar 2023

A Gene Regulatory Network Approach Harmonizes Genetic And Epigenetic Signals And Reveals Repurposable Drug Candidates For Multiple Sclerosis, Astrid M Manuel, Yulin Dai, Peilin Jia, Leorah A Freeman, Zhongming Zhao

Faculty, Staff and Student Publications

Multiple sclerosis (MS) is a complex dysimmune disorder of the central nervous system. Genome-wide association studies (GWAS) have identified 233 genetic variations associated with MS at the genome-wide significant level. Epigenetic studies have pinpointed differentially methylated CpG sites in MS patients. However, the interplay between genetic risk factors and epigenetic regulation remains elusive. Here, we employed a network model to integrate GWAS summary statistics of 14 802 MS cases and 26 703 controls with DNA methylation profiles from 140 MS cases and 139 controls and the human interactome. We identified differentially methylated genes by aggregating additive effects of differentially methylated …


Molecularly Targeted Therapy In Acute Myeloid Leukemia: Current Treatment Landscape And Mechanisms Of Response And Resistance, Curtis A Lachowiez, Courtney D Dinardo, Sanam Loghavi Mar 2023

Molecularly Targeted Therapy In Acute Myeloid Leukemia: Current Treatment Landscape And Mechanisms Of Response And Resistance, Curtis A Lachowiez, Courtney D Dinardo, Sanam Loghavi

Faculty, Staff and Student Publications

Treatment for acute myeloid leukemia (AML) has evolved rapidly over the last decade as improved understanding of cytogenetic and molecular drivers of leukemogenesis refined survival prognostication and enabled development of targeted therapeutics. Molecularly targeted therapies are now approved for the treatment of FLT3 and IDH1/2-mutated AML and additional molecularly and cellularly targeted therapeutics are in development for defined patient subgroups. Alongside these welcome therapeutic advancements, increased understanding of leukemic biology and treatment resistance has resulted in clinical trials investigating combinations of cytotoxic, cellular, and molecularly targeted therapeutics resulting in improved response and survival outcomes in patients with AML. Herein, …


Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated With Diabetic Kidney Disease, Yang Pan, Xiao Sun, Xuenan Mi, Zhijie Huang, Yenchih Hsu, James E Hixson, Donna Munzy, Ginger Metcalf, Nora Franceschini, Adrienne Tin, Anna Köttgen, Michael Francis, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium Topmed Kidney Function Working Group, Jennifer A Brody, Bryan Kestenbaum, Colleen M Sitlani, Josyf C Mychaleckyj, Holly Kramer, Leslie A Lange, Xiuqing Guo, Shih-Jen Hwang, Marguerite R Irvin, Jennifer A Smith, Lisa R Yanek, Dhananjay Vaidya, Yii-Der Ida Chen, Myriam Fornage, Donald M Lloyd-Jones, Lifang Hou, Rasika A Mathias, Braxton D Mitchell, Patricia A Peyser, Sharon L R Kardia, Donna K Arnett, Adolfo Correa, Laura M Raffield, Ramachandran S Vasan, L Adrienne Cupple, Daniel Levy, Robert C Kaplan, Kari E North, Jerome I Rotter, Charles Kooperberg, Alexander P Reiner, Bruce M Psaty, Russell P Tracy, Richard A Gibbs, Alanna C Morrison, Harold Feldman, Eric Boerwinkle, Jiang He, Tanika N Kelly, Cric Study Investigators Mar 2023

Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated With Diabetic Kidney Disease, Yang Pan, Xiao Sun, Xuenan Mi, Zhijie Huang, Yenchih Hsu, James E Hixson, Donna Munzy, Ginger Metcalf, Nora Franceschini, Adrienne Tin, Anna Köttgen, Michael Francis, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium Topmed Kidney Function Working Group, Jennifer A Brody, Bryan Kestenbaum, Colleen M Sitlani, Josyf C Mychaleckyj, Holly Kramer, Leslie A Lange, Xiuqing Guo, Shih-Jen Hwang, Marguerite R Irvin, Jennifer A Smith, Lisa R Yanek, Dhananjay Vaidya, Yii-Der Ida Chen, Myriam Fornage, Donald M Lloyd-Jones, Lifang Hou, Rasika A Mathias, Braxton D Mitchell, Patricia A Peyser, Sharon L R Kardia, Donna K Arnett, Adolfo Correa, Laura M Raffield, Ramachandran S Vasan, L Adrienne Cupple, Daniel Levy, Robert C Kaplan, Kari E North, Jerome I Rotter, Charles Kooperberg, Alexander P Reiner, Bruce M Psaty, Russell P Tracy, Richard A Gibbs, Alanna C Morrison, Harold Feldman, Eric Boerwinkle, Jiang He, Tanika N Kelly, Cric Study Investigators

Faculty, Staff and Students Publications

Diabetic kidney disease (DKD) is recognized as an important public health challenge. However, its genomic mechanisms are poorly understood. To identify rare variants for DKD, we conducted a whole-exome sequencing (WES) study leveraging large cohorts well-phenotyped for chronic kidney disease and diabetes. Our two-stage WES study included 4372 European and African ancestry participants from the Chronic Renal Insufficiency Cohort and Atherosclerosis Risk in Communities studies (stage 1) and 11 487 multi-ancestry Trans-Omics for Precision Medicine participants (stage 2). Generalized linear mixed models, which accounted for genetic relatedness and adjusted for age, sex and ancestry, were used to test associations between …


Assigning Pathogenicity For Tab2 Variants Using A Novel Scalable Functional Assay And Expanding Tab2 Disease Spectrum, Weiyi Xu, Andrea Graves, Monika Weisz-Hubshman, Lamees Hegazy, Christina Magyar, Zian Liu, Eleni Nasiotis, Md Abul Hassan Samee, Thomas Burris, Seema Lalani, Lilei Zhang Mar 2023

Assigning Pathogenicity For Tab2 Variants Using A Novel Scalable Functional Assay And Expanding Tab2 Disease Spectrum, Weiyi Xu, Andrea Graves, Monika Weisz-Hubshman, Lamees Hegazy, Christina Magyar, Zian Liu, Eleni Nasiotis, Md Abul Hassan Samee, Thomas Burris, Seema Lalani, Lilei Zhang

Faculty, Staff and Students Publications

Haploinsufficiency of TGF-beta-activated kinase 1 (MAP3K7) binding protein 2 (TAB2) has been associated with congenital heart disease and more recently multiorgan structural abnormalities. Missense variant represents a major proportion of non-synonymous TAB2 variants reported in gnomAD (295/576) and Clinvar (16/73), most of which are variants of uncertain significance (VUSs). However, interpretation of TAB2 missense variants remains challenging because of lack of functional assays. To address this issue, we established a cell-based luciferase assay that enables high-throughput screening of TAB2 variants to assess the functional consequence for predicting variant pathogenicity. Using this platform, we screened 47 TAB2 variants including five pathogenic …