Digital Commons Network^™

Mainstreaming Parafamily, Elizabeth F. Emens

Faculty Scholarship

In Parafamily, Chen and Mulligan have managed to cover vast terrain, to catalogue important developments in law, to canvass insights from generations of thinkers, and to propose an ambitious yet pragmatic approach to the laws that govern human relationships, directly and indirectly. They do all this in a relatively short article composed of unusually readable prose. Quite a feat.

The focus of the piece is Chen and Mulligan’s contribution to the field of legal scholarship dedicated to relationships that go beyond the traditional nuclear family. As their title reveals, the authors contribute a new term and concept to this …

Evaluation Of A Complex Intervention: The Latch On Randomized Controlled Trial Of Multicomponent Breastfeeding Support For Women With A Raised Body Mass Index, Catherine Mcnestry, Anna Hobbins, Niamh Donnellan, Paddy Gillespie, Fionnuala M. Mcauliffe, Sharleen L. O'Reilly, Denise Mcguinness, Sarah Louise Killeen, John Mehegan, Barbara Coughlan, Eileen C. O'Brien, Marie Conway, Denise O'Brien, Marcelina Szafranska, Mary Brosnan, Lucille Sheehy, Rosie Murtagh, Lorraine O'Hagan, Marie Corbett, Michelle Walsh, Regina Keogh, Paula Power, Marie Woodcock, Mary Phelan, Amy Carroll, Stephanie Murray, Charmaine Scallan, Elizabeth Dunn

Research Outputs: 2025-Present

Background: Latch On's objective was to achieve improved breastfeeding rates in women with raised body mass indices using a multicomponent breastfeeding support intervention. Methods: A hybrid type 1 implementation-effectiveness trial with mixed-methods process and health economics analyses were conducted. Data collection included stakeholder questionnaires, interviews, focus groups, fidelity data, participant and health system costs. Results: The intervention was delivered with fidelity but the high breastfeeding rates at 3 months were not different between intervention and usual care. Participants receiving the minimum intervention dose were more likely to initiate breastfeeding (P = 0.045) and be breastfeeding at hospital discharge (P = …

Implant Placement-Associated Tissue Swelling: A Digital Three-Dimensional And Patient-Based Assessment, Vrisiis Kofina, Juan Valencia Rincon, Swati Y. Rawal, Andrew R. Dentino, Shengtong Han, Dimitris N. Tatakis

School of Dentistry Faculty Research and Publications

Objectives

There is scarce evidence on immediate soft tissue and patient-reported outcome measures (PROMs) following implant surgery. This prospective study aimed to quantify post-implant placement intraoral swelling and to correlate it with PROMs.

Materials and methods

Twenty-six patients undergoing standardized single implant placement (two-stage protocol) were recruited. Soft tissue swelling was recorded by intraoral scans immediately pre-surgery (PS) and post-operatively (IP), and at 2 (2d), 7 (7d) and 14 days (14d) and 2 months (2 m). Ridge width, height, and volume changes from IP were recorded. PROMs (pain, swelling, difficulty of mouth opening, and OHIP-14) were recorded pre- and post-operatively. …

Evaluating Dry Air Personnel Decontamination Of Methyl Salicylate As A Chemical Agent Surrogate In Extreme Cold Environments To Reduce Airborne Risks Using A Manikin, Lance E. Campbell

Theses and Dissertations

This research investigated a mobile air shower as an alternative to water washing for personnel chemical decontamination in Arctic environments, where traditional methods like disrobing and rinsing are impractical. Interest in Arctic operations has grown with recent U.S. military focus on strategic advancements by Russia and China, yet research on air shower effectiveness for chemical decontamination remains limited. This study examined whether a commercial off-the-shelf air shower could effectively decontaminate methyl salicylate (MES), a surrogate for chemical warfare blister agents, from a manikin outfitted in military cold-weather gear. Researchers used a ppbRAE 3000 photo-ionization detector to measure MES concentrations following …

Molecular Scale Investigations Of Interactions Between Pfas And Concrete, Eric E. Keeler

Theses and Dissertations

Per- and polyfluoroalkyl substances (PFAS), widely referred to as “forever chemicals,” exhibit high environmental persistence and potential health risks due to their robust carbon-fluorine bonds. These substances are prevalent in aqueous film-forming foams (AFFF), used in industrial and military applications, and are known to contaminate environmental surfaces, including concrete. This study aims to characterize the molecular-level interaction energies of six PFAS species—PFOA, PFOS, PFHxS, PFHxA, 6:2 FTS, and PFBS—with calcium silicate, a key component of concrete, using density functional theory (DFT) calculations. Change in Gibbs free energy (ΔG) was determined for each of the interactions, revealing negative ΔG values for …

Improving Zero Shot Learning By Linking Multi-Label Cnns With Llms, Michael A. Wegner

Theses and Dissertations

Classifying previously unseen objects poses a significant challenge for traditional computer vision algorithms, which rely on extensive labeled training data. Zero-shot reasoning offers a way to overcome this limitation. This research explores a novel method for image recognition using the Animals with Attributes 2 (AWA2) dataset as a proof of concept. A multi-label ResNet50 model predicts core attributes like color, ear shape, or number of limbs. Those attributes then feed into ChatGPT which leverages its extensive knowledge base to classify the animal based on the provided attributes. This novel approach skips the need to train on every possible class. Instead, …

Discovering Design Requirements For Next Generation Arctic Tension Fabric Shelters, Mark W. Mcveigh

Theses and Dissertations

Military operations to remote Arctic regions require large-span temporary shelters to house tactical aircraft and provide heated maintained spaces. However, the current System-50 Large Area Maintenance Shelters used by the United States Air Force and Department of Defense are inadequate for Arctic deployments. These shelters lack durability against extreme subzero temperatures, heavy snow accumulation, and high wind speeds. They also fail to address critical Arctic-specific design challenges including permafrost protection, foundation disruption caused by frost heaves, and efficient heating as a result of their inadequate thermal resistance properties. This research analyzed 20 years of climatological data from 8,399 weather observation …

Atmospheric Water Generation: Bacterial And Inorganic Chemical Quality, Garrett E. Stanley

Theses and Dissertations

This study investigated the quality of untreated water collected from a vapor compression-based atmospheric water generator (AWG) operated outdoors in Dayton, Ohio. The concentrations of bacterial and chemical constituents were determined. The concentration of culturable bacteria was between 200 and 2300 CFU/mL, significantly higher than the reference levels described in recreational and drinking water quality guidance. Three discrete bacteria phenotypes were visually identified; two were yellow in color, rod-shaped and gram-negative while the third was milky white, circular, and gram-positive. Chemical analysis on 15 randomly selected samples revealed the presence of Barium (average = 0.16 mg/L), Magnesium (0.08 = mg/L), …

Early-Phase Cost Estimation For Department Of Defense Construction Projects Via Artificial Neural Networks: Implications And Policy Recommendations For Artificial Intelligence Integration, Kobe T. Thompson

Theses and Dissertations

The Department of Defense lost over 500 million dollars between 2016 and 2024, partially due to poor early cost estimates resulting in cost overruns. practice for cost estimation relied on parametric techniques that incorporate historical data, subject matter experts in cost estimating, and predictive software applications. The main motivation for this study was to assess the viability of artificial neural networks as a means of providing a more accurate cost estimate in the early design phases of a construction project. The dataset initially contained approximately 48,000 data points from a database of various Air Force projects, including maintenance, repair, minor …

Material Classification With Spectropolarimetric Lidar, Alexander J. Watson

Theses and Dissertations

A method for characterizing unknown targets using a hyperspectral polarimetric light detection and ranging (LiDAR) system is presented. Light reflected from manmade objects tends to be more polarized than light reflected from objects in the natural world. As such, polarization measurements can be used in remote sensing applications to differentiate artificial and natural objects. Previous works have attempted to characterize objects through passive polarimetric imagery. Methods developed by Cain and Lemaster and Cunningham facilitate reconstruction of the Stokes Vector from returning light. Martin used multispectral polarimetry to classify targets when the angle of incidence (AOI) is close to 0º. Here, …

Approximating Three-Body Trajectories With A Knot Theory Inspired Model For Orbit Generation And Determination, Mason R. Mill

Theses and Dissertations

This thesis explores a novel approach to approximating three-body trajectories using a knot theory-inspired model for orbit generation and determination. Traditional methods for solving the Circular Restricted Three-Body Problem (CR3BP) rely on numerical integration and correction schemes to generate trajectories, often requiring iterative refinements. This research investigates the application of knot theory principles—such as torus knots, Alexander polynomials, and Reidemeister moves—to categorize and model complex orbital trajectories in the CR3BP. By leveraging these mathematical tools, the study aims to enhance trajectory prediction, orbit determination, and mission planning for spacecraft operating in the cislunar environment. The results demonstrate that knot theory …

Personal Decontamination Of Copper Oxide Powder As A Radiological Surrogate On Ambulatory Patients In Arctic Environments: Assessing Residual Airborne Risks After Air Shower Or Vacuum Decontamination Of A Manikin, Quinn G. Pelichoff

Theses and Dissertations

This study assessed air-based decontamination methods for treating patients exposed to dry radiological contamination while minimizing reaerosolization during disrobing, particularly in extreme cold environments. A full-size manikin,  simulating an able-bodied Airman, was dressed in military-issue extreme cold weather gear and coated with 28 grams of Copper Oxide. The manikin underwent one of three treatments: HEPA vacuuming, a mobile personal air shower, or no treatment (control). After treatment, researchers removed the uniform and used optical particle counters to measure airborne dust concentrations that could pose risks during disrobing. Each method was tested ten times (30 trials total). Statistical analyses (ANOVA, Tukey’s …

Distinct Single-Cell Transcriptional Profile In Cd4+ T-Lymphocytes Among Obese Children With Asthma, Vickram Tejwani, Rulin Wang, Andres Villabona-Rueda, Karthik Suresh, Tianshi David Wu, Ian M Adcock, Nazanin Z Kermani, Joe Zein, Nadia N Hansel, Srinivasan Yegnasubramanian, Meredith C Mccormack, Franco R D'Alessio

Faculty, Staff and Students Publications

Obesity is a risk factor for asthma morbidity, associated with less responsiveness to inhaled corticosteroids. CD4+ T cells are central to the immunology of asthma and may contribute to the unique obese asthma phenotype. We sought to characterize the single-cell CD4+ transcriptional profile differences in obese children with asthma compared with normal-weight children with asthma. Eight normal-weight and obese participants with asthma were clinically phenotyped and matched based on asthma control. Peripheral blood (PB) CD4+ T cells were sorted, and single-cell RNA sequencing was conducted. Cell clusters were identified by canonical gene expression and differential gene expression and reactome pathway …

Irisin-Mediated Muscle-Renal Crosstalk As A Protective Mechanism Against Contrast-Induced Acute Kidney Injury Via Cgas-Sting Signalling Inhibition, Long Peng, Suhua Li, Qiang Huang, Yuxiang Sun, Juan Sun, Ting Luo, Yanlin Wang, Zhaoyong Hu, Weiyan Lai, Hui Peng

Faculty, Staff and Students Publications

Background: Contrast-induced acute kidney injury (CI-AKI) continues to pose a pressing clinical challenge during invasive cardiovascular procedures due to the limited availability of preventative strategies. We aimed to demonstrate that irisin, a myokine induced by exercise, protects against CI-AKI by inhibiting the cGAS-STING inflammatory pathway.

Methods and results: We explored the relationship between serum irisin levels and CI-AKI incidence in patients administered the contrast media iohexol. Notably, lower serum irisin levels were strongly associated with an increased incidence of CI-AKI following contrast media administration. To establish a causal link between serum irisin levels and CI-AKI, we utilised a mouse model …

Cagi6 Id Panel Challenge: Assessment Of Phenotype And Variant Predictions In 415 Children With Neurodevelopmental Disorders (Ndds), Maria Cristina Aspromonte, Alessio Del Conte, Shaowen Zhu, Wuwei Tan, Yang Shen, Yexian Zhang, Qi Li, Maggie Haitian Wang, Giulia Babbi, Samuele Bovo, Pier Luigi Martelli, Rita Casadio, Azza Althagafi, Sumyyah Toonsi, Maxat Kulmanov, Robert Hoehndorf, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Su Xian, Wesley Surento, Vikas Pejaver, Sean D Mooney, Uma Sunderam, Rajgopal Srinivasan, Alessandra Murgia, Damiano Piovesan, Silvio C E Tosatto, Emanuela Leonardi

Faculty, Staff and Students Publications

The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age. Here, we assess the ability and accuracy of computational methods to predict comorbid phenotypes based on clinical …

Genomic Balancing Act: Deciphering Dna Rearrangements In The Complex Chromosomal Aberration Involving 5p152, 2q311, And 18q2132, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Christopher M Grochowski, Claudia M B Carvalho, Shalini N Jhangiani, Weimin Bi, Haowei Du, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Maha S Zaki, James R Lupski

Faculty, Staff and Students Publications

Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with a NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging. Comprehensive genomic analyses revealed a terminal 5p loss and a terminal 18q gain in the proband while a diploid copy number for chromosomes 5 and 18 in both parents. Genomic investigations in the proband identified an unbalanced translocation t(5;18) with additional genetic material from chromosome 2 (2q31.3) inserted at the breakpoint, pointing to a complex chromosomal rearrangement (CCR) involving 5p15.2, 2q31.3, and 18q21.32. Breakpoint junction analyses …

Analysis And Benchmarking Of Small And Large Genomic Variants Across Tandem Repeats, Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K Mckenzie, Nathan D Olson, Wouter De Coster, Jonghun Park, Bida Gu, Justin Wagner, Michael A Eberle, Melissa Gymrek, Mark J P Chaisson, Justin M Zook, Fritz J Sedlazeck

Faculty, Staff and Students Publications

Tandem repeats (TRs) are highly polymorphic in the human genome, have thousands of associated molecular traits and are linked to over 60 disease phenotypes. However, they are often excluded from at-scale studies because of challenges with variant calling and representation, as well as a lack of a genome-wide standard. Here, to promote the development of TR methods, we created a catalog of TR regions and explored TR properties across 86 haplotype-resolved long-read human assemblies. We curated variants from the Genome in a Bottle (GIAB) HG002 individual to create a TR dataset to benchmark existing and future TR analysis methods. We …

Meeting Report: 1st International Conference On Polyploid Giant Cancer Cells-Biology, Clinical Applications, And The Birth Of A New Field In Cancer Research, Tao P Wu, Xiaoran Li, Sujuan Ba, Phil Jones, Donna E Hansel, Jinsong Liu

Faculty, Staff and Students Publications

No abstract provided.

Exploration Of Cytokines And Microbiome Among Males And Females With Diarrhea-Predominant Irritable Bowel Syndrome, Li Juen Chen, Anna M Plantinga, Robert Burr, Kevin Cain, Pamela Barney, Tor Savidge, Robert J Shulman, Margaret Heitkemper, Kendra Kamp

Faculty, Staff and Students Publications

Background: Whether pathophysiological factors differ between males and females with irritable bowel syndrome-diarrhea (IBS-D) remains to be tested. To better understand potential sex differences, males with IBS-D were compared to naturally cycling females and to females with IBS-D taking hormonal contraception on plasma levels of cytokines and gut microbiome characteristics.

Methods: Males and females with Rome III IBS-D completed questionnaires and kept a daily symptom diary for 28 days. Blood and stool samples were collected between days 3 and 8 of the daily diary (estrogen-dominant days in naturally cycling females). Blood samples were analyzed for lipopolysaccharide (LPS)-stimulated and unstimulated cytokine …

Analysis Of Mybl1, E2f5, And, Maf1 Gene Relationships In Triple-Negative Breast Cancer, Kathy N. Dang

Theses (2016-Present)

Breast cancer is a highly heterogeneous disease, and is commonly diagnosed among many women and men around the world. Triple-negative breast cancer (TNBC) is a malignant form of breast cancer that currently remains a clinical challenge due to its difficult prognosis and treatment options. MYBL1, a gene that contributes to progression of tumors, was discovered in prior studies as an essential transcriptional factor that involves high levels of MYBL1 gene expression in TNBC. MYBL1 can be located on chromosome 8q locus, along with two other genes selected for this specific study, identified as E2F5 and MAF1. This chromosome of interest …

Fighting Drugs With Drugs: Medical Mushrooms In Utah’S War On Opioids, Paul Helms

Utah Law Review

In addition to the happy side effect of improving psilocybin’s odds of rescheduling under the proposed new CAMU standard (potentially increasing national psilocybin accessibility for opioid recovery), Senator Escamilla’s S.B. 200 could represent the beginning of a new era for the State of Utah in its battle against opioids. Despite S.B. 200’s failure to pass, the medical application of psilocybin under S.B. 266 (S.B. 200’s spiritual successor) should positively impact several interconnected issues in Utah, including mental illness, addiction, and transiency. However, specific proof of psilocybin’s effectiveness in combatting opioid addiction should be especially persuasive in garnering bipartisan support for …

A Practical Guide To Transcranial Ultrasonic Stimulation From The Ifcn-Endorsed Itrusst Consortium, Keith R. Murphy, Tulika Nandi, Benjamin Kop, Takahiro Osada, Maximilian Lueckel, W. Apoutou N'Djin, Kevin A. Caulfield, Anton Fomenko, Hartwig R. Siebner, Yoshikazu Ugawa, Lennart Verhagen, Sven Bestmann, Eleanor Martin, Kim Butts Pauly, Elsa Fouragnan, Til Ole Bergmann

School of Psychology

Low-intensity Transcranial Ultrasonic Stimulation (TUS) is a non-invasive brain stimulation technique enabling cortical and deep brain targeting with unprecedented spatial accuracy. Given the high rate of adoption by new users with varying levels of expertise and interdisciplinary backgrounds, practical guidelines are needed to ensure state-of-the-art TUS application and reproducible outcomes. Therefore, the International Transcranial Ultrasonic Stimulation Safety and Standards (ITRUSST) consortium has formed a subcommittee, endorsed by the International Federation of Clinical Neurophysiology (IFCN), to develop recommendations for best practices in human TUS applications. The practical guide presented here provides a brief introduction into ultrasound physics and sonication parameters. It …

The Feasibility Of Ambulatory Heart Rate Variability Monitoring In Non‐Suicidal Self‐Injury, Rohit Shankar

Peninsula Medical School

The polyvagal theory proposes that the autonomic nervous system influences affective systems and top-down emotional regulation.Vagal tone, as indexed by heart rate variability (HRV), is a measure of emotion regulation capacity. It is possible that non-suicidalself-injury (NSSI) occurs at times of low vagal tone and that NSSI may increase it. Little is known about the feasibility of collectingambulatory HRV data in the context of NSSI. This prospective observational study examined the feasibility of ambulatory HRVmonitoring during NSSI. Ten participants wore a chest-based heart rate monitor and used a diary app for 1 week. Baselinecharacteristics were collected. Heart rate monitoring duration, …

Canonical And Non-Canonical Functions Of The Non-Coding Rna Component (Terc) Of Telomerase Complex, Chongwen Cao, Weiyi Gong, Yuanlong Shuai, Sara Rasouli, Qianyun Ge, Anam Khan, Aleksandra Dakic, Nagireddy Putluri, Gennady Shvets, Yun-Ling Zheng, Danyal Daneshdoust, Rani Mahyoob, Jenny Li, Xuefeng Liu

Faculty, Staff and Students Publications

The telomerase complex consists of a protein component (TERT), which has reverse transcriptase activity, and an RNA component (TERC), which serves as a template for telomere synthesis. Evidence is rapidly accumulating regarding the non-canonical functions of these components in both normal or diseased cells. An oligonucleotide-based drug, the first telomerase inhibitor, secured FDA approval in June 2024. We recently summarized the non-canonical functions of TERT in viral infections and cancer. In this review, we expand on these non-canonical functions of TERC beyond telomere maintenance. Specifically, we explore TERC's roles in cellular aging and senescence, immune regulation, genetic diseases, human cancer, …

Interdisciplinary Research Among Tourism, Public Health, And Global Health: A Promising Stream Focusing On Populations With Suboptimal Health Status, Jun Wen, Fangli Hu, Danni Zheng, Haifeng Hou, Wei Wang

Research outputs 2022 to 2026

Research suggests that approximately 75% of the world's population suffers from suboptimal health status, meaning these individuals often feel unwell but have no clearly diagnosable conditions. Suboptimal health status, originating from traditional Chinese medicine, signifies an intermediate state between health and disease. Tourism has been deemed beneficial for personal health and general well-being. More recently, it has been proposed as a non-pharmacological intervention for individuals with dementia, given its potential contributions to health promotion and disease prevention/treatment. Yet, the tourism literature has paid scarce attention to populations with suboptimal health status, even as an aging society becomes inevitable. This paper …

Pulmonary Nodule Malignancy Probability: A Meta-Analysis Of The Brock Model, S. Chen, W. L. Lin, W. T. Liu, L. Y. Zou, Y. Chen, F. Lu

Research outputs 2022 to 2026

Aim: This study aims to quantify the performance of the Brock model through a systematic review and meta-analysis and to clarify its overall accuracy in predicting malignant pulmonary nodules. Materials and Methods: A systematic search was conducted in databases including the Cochrane Library, Excerpta Medica database (EMBASE), MEDLINE, Web of Science, Chinese Biological Medicine Database (CBM), China National Knowledge Infrastructure (CNKI), VIP, and Wanfang from their inception until May 1, 2024, to collect observational cohort studies involving the Brock model. The primary outcome was the pooled area under the receiver operating characteristic curve (ROC) the area under curve (AUC) for …

Sex Differences In Grip Strength From Birth To Age 16: A Meta-Analysis, James L. Nuzzo

Research outputs 2022 to 2026

In 1985, Thomas and French published results of a meta-analysis that examined sex differences in grip strength in children 5 years of age and older. Their analysis included results from only four studies, and no update has been published. The purpose of the current study was to use meta-analysis to examine sex differences in grip strength from birth to age 16. The analysis included 808 effects from 169 studies conducted in 45 countries between 1961 and 2023. The total sample was 353,676 (178,588 boys, 175,088 girls). From birth to 16 years of age, grip strength was consistently greater in boys …

Assessing The Predicted Impact Of Single Amino Acid Substitutions In Calmodulin For Cagi6 Challenges, Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, Emil Alexov, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Dong Li, Olivier Lichtarge, Pier Luigi Martelli, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Daniele Dell'orco, Emidio Capriotti

Faculty, Staff and Students Publications

Recent thermodynamic and functional studies have been conducted to evaluate the impact of amino acid substitutions on Calmodulin (CaM). The Critical Assessment of Genome Interpretation (CAGI) data provider at University of Verona (Italy) measured the melting temperature (Tm) and the percentage of unfolding (%unfold) of a set of CaM variants (CaM challenge dataset). Thermodynamic measurements for the equilibrium unfolding of CaM were obtained by monitoring far-UV Circular Dichroism as a function of temperature. These measurements were used to determine the Tm and the percentage of protein remaining unfolded at the highest temperature.

The CaM challenge dataset, comprising a total of …

Assessing The Predicted Impact Of Single Amino Acid Substitutions In Mapk Proteins For Cagi6 Challenges, Paola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, Leonore Novak, Alessandra Pasquo, Emil Alexov, Muttaqi Ahmad Alladin, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Jianlin Cheng, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Minghui Li, Dong Li, Olivier Lichtarge, Sajid Mahmud, Pier Luigi Martelli, Debnath Pal, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Roberta Chiaraluce, Valerio Consalvi, Emidio Capriotti

Faculty, Staff and Students Publications

New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions on the Mitogen Activated Protein Kinases 1 and 3 (MAPK1/3). The Critical Assessment of Genome Interpretation (CAGI) data provider, at Sapienza University of Rome, measured the unfolding free energy and the enzymatic activity of a set of variants (MAPK challenge dataset). Thermodynamic measurements for the denaturant-induced equilibrium unfolding of the phosphorylated and unphosphorylated forms of the MAPKs were obtained by monitoring the far-UV circular dichroism and intrinsic fluorescence changes as a function of denaturant concentration. These values have been used to calculate the …

Causes Of Mortality In The Congenital Disorders Of Glycosylation, Hana Alharbi, Seishu Horikoshi, Sabrina Malone Jenkins, Fernando Scaglia, Christina Lam, Eva Morava, Austin Larson, Andrew C Edmondson

Faculty, Staff and Students Publications

Congenital Disorders of Glycosylation (CDG) are a group of some 200 genetic disorders with PMM2-CDG being the most common disease. These disorders individually remain rare with poorly understood natural history (NH) and causes of mortality. We established a NH study for CDG and collected both prospective and retrospective data on CDG outcomes. In the current data set analysis on deceased patients, we describe the clinical phenotype and causes of death for thirty-seven individuals with various genetic causes of CDG. About a third of this cohort were affected with PMM2-CDG. All of the patients presented with multisystem features with involvement of …