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Articles 47161 - 47190 of 255958
Full-Text Articles in Life Sciences
Treatment Of Epilepsy Using A Targeted P38Γ Kinase Gene Therapy, Nicolle Morey, Magdalena Przybyla, Julia Van Der Hoven, Yazi D Ke, Fabien Delerue, Lars M Ittner
Treatment Of Epilepsy Using A Targeted P38Γ Kinase Gene Therapy, Nicolle Morey, Magdalena Przybyla, Julia Van Der Hoven, Yazi D Ke, Fabien Delerue, Lars M Ittner
Faculty, Staff and Student Publications
Hyperphosphorylated microtubule-associated protein tau has been implicated in dementia, epilepsy, and other neurological disorders. In contrast, site-specific phosphorylation of tau at threonine 205 (T205) by the kinase p38γ was shown to disengage tau from toxic pathways, serving a neuroprotective function in Alzheimer's disease. Using a viral-mediated gene delivery approach in different mouse models of epilepsy, we show that p38γ activity-enhancing treatment reduces seizure susceptibility, restores neuronal firing patterns, reduces behavioral deficits, and ameliorates epilepsy-induced deaths. Furthermore, we show that p38γ-mediated phosphorylation of tau at T205 is essential for this protection in epilepsy, as a lack of this critical interaction reinstates …
Coronary Artery Calcium Score On Standard Of Care Oncologic Ct Scans For The Prediction Of Adverse Cardiovascular Events In Patients With Non-Small Cell Lung Cancer Treated With Concurrent Chemoradiotherapy, Efstratios Koutroumpakis, Ting Xu, Juan Lopez-Mattei, Tinsu Pan, Yang Lu, Radhe Mohan, Qing H Meng, Ruitao Lin, Tianlin Xu, Anita Deswal, Zhongxing Liao
Coronary Artery Calcium Score On Standard Of Care Oncologic Ct Scans For The Prediction Of Adverse Cardiovascular Events In Patients With Non-Small Cell Lung Cancer Treated With Concurrent Chemoradiotherapy, Efstratios Koutroumpakis, Ting Xu, Juan Lopez-Mattei, Tinsu Pan, Yang Lu, Radhe Mohan, Qing H Meng, Ruitao Lin, Tianlin Xu, Anita Deswal, Zhongxing Liao
Faculty, Staff and Student Publications
INTRODUCTION: Chemoradiotherapy (CRT) has been associated with increased incidence of cardiovascular (CV) adverse events (CVAE). Coronary artery calcium scoring (CAC) has shown to predict coronary events beyond the traditional CV risk factors. This study examines whether CAC, measured on standard of care, non-contrast chest CT (NCCT) imaging, predicts the development of CVAE in patients with non-small cell lung cancer (NSCLC) treated with CRT.
METHODS: Patients with NSCLC treated with CRT at MD Anderson Cancer Center from 7/2009 until 4/2014 and who had at least one NCCT scan within 6 months from their first CRT were identified. CAC scoring was performed …
A Time And Place For Inhibiting Autophagy, Boyi Gan
A Time And Place For Inhibiting Autophagy, Boyi Gan
Faculty, Staff and Student Publications
Autophagy is an attractive therapeutic target in cancer. Successful autophagy-focused clinical intervention will require a detailed understanding of when and where autophagy is important during tumorigenesis. In this issue of Cancer Research, Khayati and colleagues use state-of-the-art genetically engineered mouse models to demonstrate that transient systemic inhibition of autophagy can irreversibly impair the growth of established lung tumors with a good tolerability in normal tissues, suggesting a therapeutic strategy for cancer treatment.
Sustained Aurora Kinase B Expression Confers Resistance To Pi3k Inhibition In Head And Neck Squamous Cell Carcinoma, Pooja A Shah, Vaishnavi Sambandam, Anne M Fernandez, Hongyun Zhao, Tuhina Mazumdar, Qi Wang, Soma Ghosh, Mitchell J Frederick, Jing Wang, Faye M Johnson
Sustained Aurora Kinase B Expression Confers Resistance To Pi3k Inhibition In Head And Neck Squamous Cell Carcinoma, Pooja A Shah, Vaishnavi Sambandam, Anne M Fernandez, Hongyun Zhao, Tuhina Mazumdar, Qi Wang, Soma Ghosh, Mitchell J Frederick, Jing Wang, Faye M Johnson
Faculty, Staff and Student Publications
UNLABELLED: Tumor suppressor mutations in head and neck squamous cell carcinoma (HNSCC) dominate the genomic landscape, hindering the development of effective targeted therapies. Truncating and missense mutations in NOTCH1 are frequent in HNSCC, and inhibition of PI3K can selectively target NOTCH1 mutant (NOTCH1MUT) HNSCC cells. In this study, we identify several proteins that are differentially regulated in HNSCC cells after PI3K inhibition based on NOTCH1MUT status. Expression of Aurora kinase B (Aurora B), AKT, and PDK1 following PI3K inhibition was significantly lower in NOTCH1MUT cell lines than in wild-type NOTCH1 (NOTCH1WT) cells or NOTCH1MUT cells with acquired resistance to PI3K …
Rad51-Mediated Interhomolog Recombination During Budding Yeast Meiosis Is Promoted By The Meiotic Recombination Checkpoint And The Conserved Pif1 Helicase, Andrew Ziesel, Qixuan Weng, Jasvinder S. Ahuja, Abhishek Bhattacharya, Raunak Dutta, Evan Cheng, G. Valentin Borner Ph.D., Michael Lichten, Nancy M. Hollingsworth
Rad51-Mediated Interhomolog Recombination During Budding Yeast Meiosis Is Promoted By The Meiotic Recombination Checkpoint And The Conserved Pif1 Helicase, Andrew Ziesel, Qixuan Weng, Jasvinder S. Ahuja, Abhishek Bhattacharya, Raunak Dutta, Evan Cheng, G. Valentin Borner Ph.D., Michael Lichten, Nancy M. Hollingsworth
Biological, Geological, and Environmental Faculty Publications
During meiosis, recombination between homologous chromosomes (homologs) generates crossovers that promote proper segregation at the first meiotic division. Recombination is initiated by Spo11-catalyzed DNA double strand breaks (DSBs). 5' end resection of the DSBs creates 3' single strand tails that two recombinases, Rad51 and Dmc1, bind to form presynaptic filaments that search for homology, mediate strand invasion and generate displacement loops (D-loops). D-loop processing then forms crossover and noncrossover recombinants. Meiotic recombination occurs in two temporally distinct phases. During Phase 1, Rad51 is inhibited and Dmc1 mediates the interhomolog recombination that promotes homolog synapsis. In Phase 2, Rad51 becomes active …
Unmanned Aerial Vehicle Based Tree Canopy Characteristics Measurement For Precision Spray Applications, Md Sultan Mahmud, Long He, Paul Heinemann, Daeun Choi, Heping Zhu
Unmanned Aerial Vehicle Based Tree Canopy Characteristics Measurement For Precision Spray Applications, Md Sultan Mahmud, Long He, Paul Heinemann, Daeun Choi, Heping Zhu
Agricultural and Environmental Sciences Faculty Research
The critical components for applying the correct amount of agrochemicals are fruit tree characteristics such as canopy height, canopy volume, and canopy coverage. An unmanned aerial vehicle (UAV)-based tree canopy characteristics measurement system was developed using image processing approaches. The UAV captured images using a high-resolution red-green-blue (RGB) camera. A digital surface model (DSM) and a digital terrain model (DTM) were generated from the captured images. A tree canopy height map was generated from the subtraction of DSM and DTM. A total of 24 apple trees were randomly targeted to measure the canopy characteristics. Region of interest (ROI) was generated …
(R1980) Effect Of Climate Change On Brain Tumor, Pardeep Kumar, Sarita Jha, Rajiv Aggarwal, Govind Kumar Jha
(R1980) Effect Of Climate Change On Brain Tumor, Pardeep Kumar, Sarita Jha, Rajiv Aggarwal, Govind Kumar Jha
Applications and Applied Mathematics: An International Journal (AAM)
In this paper, we introduce a new dynamical model addressing the variation in climate condition due the presence of microorganisms. We also introduce a new dynamical model of cancer growth which includes three interactive cell populations with drug free environment, namely tumor cells, healthy host cells, and immune effector cells. In this, we considered the super growth of tumor cells. For the choice of certain parameters, both of the systems exhibit chaotic behavior. The aim of this work is to design the controller to control the chaos and to provide sufficient conditions which achieve synchronization of two non-identical systems, which …
Abundance And Territory Location Data Of Forest Songbirds To Determine Effects Of Pipeline Collocation As A Mitigation Strategy, Lillie Langlois
Abundance And Territory Location Data Of Forest Songbirds To Determine Effects Of Pipeline Collocation As A Mitigation Strategy, Lillie Langlois
All Data Sets
These data were collected for the purpose of determining potential ecological costs associated with a mitigation strategy used in shale gas development in the Appalachian basin. Collocation is the practice of siting new shale gas pipelines adjacent to existing surface disturbance such as forest roads to reduce habitat fragmentation and loss of core forest. These data result from spot mapping for species of songbird at paired forest road and shale gas corridors (expanded access roads collocated with pipelines) between May and July 2013 in north-central Pennsylvania, USA. The data file contains nine sheets that report data from different pieces of …
A Case Of Transverse Myelitis Secondary To Covid-19 Infection, Rahul Borra, Neal T. Patel, Raheel Shaikh, Mayur S. Parmar, Sujatha Borra
A Case Of Transverse Myelitis Secondary To Covid-19 Infection, Rahul Borra, Neal T. Patel, Raheel Shaikh, Mayur S. Parmar, Sujatha Borra
HPD Articles
Infection with COVID-19 (SARS-CoV-2) is associated with a variety of generalized and specific symptoms, including neurological complications of both the peripheral and central nervous systems. In this case report, we present the case of a previously healthy 55-year-old woman who was diagnosed with transverse myelitis following a previous infection with COVID-19. MRI showed progressive demyelination of the cervical and thoracic spinal cord, and cerebrospinal fluid (CSF) showed increased levels of protein and red blood cells and no markers of infection, including negative polymerase chain reaction (PCR) for COVID-19 antibodies. The patient was treated with a course of methylprednisolone, multiple treatments …
The Casnr L.I.N.K.S. Newsletter: Learning Innovation Network For K-12 Schools, Edition 11, December 2022, Bailey Feit, Tammy Mittelstet
The Casnr L.I.N.K.S. Newsletter: Learning Innovation Network For K-12 Schools, Edition 11, December 2022, Bailey Feit, Tammy Mittelstet
CASNR L.I.N.K.S. Newsletter
The purpose of this L.I.N.K.S. newsletter is to provide a monthly update of opportunities and resources for K-12 schools to connect with the University of Nebraska's CASNR Food, Energy, Water, and Societal Systems (FEWS²) programs and partners.
This edition includes:
Teachers' corner, K-12 resources
Links to partners' newsletters
Top 5 success stories
FEWSS 2022 highlighted impact
Looking toward 2023
CASNR focus areas
Send your students to campus!
Scholarship opportunities
(R2020) Dynamical Study And Optimal Harvesting Of A Two-Species Amensalism Model Incorporating Nonlinear Harvesting, Manoj Kumar Singh, Poonam .
(R2020) Dynamical Study And Optimal Harvesting Of A Two-Species Amensalism Model Incorporating Nonlinear Harvesting, Manoj Kumar Singh, Poonam .
Applications and Applied Mathematics: An International Journal (AAM)
This study proposes a two-species amensalism model with a cover to protect the first species from the second species, with the assumption that the growth of the second species is governed by nonlinear harvesting. Analytical and numerical analyses have both been done on this suggested ecological model. Boundedness and positivity of the solutions of the model are examined. The existence of feasible equilibrium points and their local stability have been discussed. In addition, the parametric conditions under which the proposed system is globally stable have been determined. It has also been shown, using the Sotomayor theorem, that under certain parametric …
Comparative Ubiquitination Proteomics Revealed The Salt Tolerance Mechanism In Sugar Beet Monomeric Additional Line M14, He Liu, Jialin Zhang, Jinna Li, Bing Yu, Sixue Chen, Chunquan Ma, Haiying Li
Comparative Ubiquitination Proteomics Revealed The Salt Tolerance Mechanism In Sugar Beet Monomeric Additional Line M14, He Liu, Jialin Zhang, Jinna Li, Bing Yu, Sixue Chen, Chunquan Ma, Haiying Li
Faculty and Student Publications
Post-translational modifications (PTMs) are important molecular processes that regulate organismal responses to different stresses. Ubiquitination modification is not only involved in human health but also plays crucial roles in plant growth, development, and responses to environmental stresses. In this study, we investigated the ubiquitination proteome changes in the salt-tolerant sugar beet monomeric additional line M14 under salt stress treatments. Based on the expression of the key genes of the ubiquitination system and the ubiquitination-modified proteins before and after salt stress, 30 min of 200 mM NaCl treatment and 6 h of 400 mM NaCl treatment were selected as time points. …
The Emerging Epidemic Of Type 2 Diabetes And Obesity Amongst Young Children, Juliana Morales
The Emerging Epidemic Of Type 2 Diabetes And Obesity Amongst Young Children, Juliana Morales
Nursing | Senior Theses
Background:
In the past years childhood obesity has increased tremendously and currently ⅓ of children in the United States are obese today. Obesity and Type 2 Diabetes are illnesses that can later on lead to more severe health complications when as a child enters adulthood. Children who are obese have a greater risk of developing Type 2 diabetes, and currently more than 80% of children who already are diagnosed with Type 2 diabetes are obese. In school and often by health care providers we are told daily physical activity and healthy diet are the best ways to maintain optimal health, …
Dpc29 Promotes Mitochondrial Translation Post-Initation In Saccharomyces Cerevisiae, Kyle Andrew Hubble
Dpc29 Promotes Mitochondrial Translation Post-Initation In Saccharomyces Cerevisiae, Kyle Andrew Hubble
Graduate School of Biomedical Sciences Theses and Dissertations
Although the cytosolic and bacterial translation systems are well studied, much less is known about translation in mitochondria. In the yeast Saccharomyces cerevisiae, mitochondrial gene expression is predominately regulated by translational activators. These regulators are thought to promote translation by binding the elongated 5’-UTRs on their target mRNAs. Since mammalian mitochondrial mRNAs generally lack 5’-UTRs, they must regulate translation by other mechanisms. As expected, most yeast translational activators lack orthologues in mammals. Recently, a mitochondrial gene-specific translational activator, TACO1, was reported in mice and humans. To better define its role in mitochondrial translation I examined the yeast TACO1 orthologue, DPC29. …
Oak Savanna Restoration And Climate Change Mitigation Through Silvopasture In Minnesota, James Siems
Oak Savanna Restoration And Climate Change Mitigation Through Silvopasture In Minnesota, James Siems
Environmental Studies Student Work
Reducing emissions of world food systems will be critical to combatting climate change. Silvopasture systems, which integrate managed forests with pastureland, have been shown to be a more sustainable alternative to traditional livestock production and have the ancillary benefit of diversifying the sources of income for farmers. Silvopasture may also have the capacity to serve as a mechanism for ecological restoration. This paper combines existing literature with an interview of a farmer who is engaging in silvopasture to evaluate the potential of silvopasture as means to restore Minnesota’s disappearing oak savanna ecosystem, while improving the sustainability of food production within …
Aquaculture In Africa: Aquatic Animal Welfare, Impact On The Environment And The Sustainability Of The Sector, Mwenda M. Mbaka, Janice H. Cox, Stephen Ronan
Aquaculture In Africa: Aquatic Animal Welfare, Impact On The Environment And The Sustainability Of The Sector, Mwenda M. Mbaka, Janice H. Cox, Stephen Ronan
Aquaculture
The African aquaculture sector recorded the fastest growth in the world between 2006-2018, averaging 10% or more, and is expected to partially fill the growing fish supply-demand gap up to 2063. In 2018, there were about 1.2 million aquafarmers across the continent, an increase from 920 thousand in 2014. According to the African Development Bank, expansion of aquaculture in Africa is hampered by "the overwhelming predominance of tilapia farming, which relies heavily on the production of fingerlings from a limited number of genetically improved strains that are resistant to the many diseases affecting this species, and on the production of …
Survival Analysis And Prognostic Factors Of The Carcinoma Of Gallbladder, Zainab Feroz, Priyanka Gautam, Sonia Tiwari, Girish C. Shukla, Munish Kuma
Survival Analysis And Prognostic Factors Of The Carcinoma Of Gallbladder, Zainab Feroz, Priyanka Gautam, Sonia Tiwari, Girish C. Shukla, Munish Kuma
Biological, Geological, and Environmental Faculty Publications
Background: The present study aims to evaluate the survival status of patients with gallbladder cancer (GBC) and explore the prognostic factors for the improvement and preventions.
Methods: The study consists of 176 patients with clinically diagnosed gallbladder cancer; the study was conducted between 2019 and 2021 registered at Kamala Nehru Memorial Cancer Hospital, Prayagraj, India. The survival rates were analyzed by the Kaplan-Meier method; survival rate difference was analyzed by log-rank test, prognosis factors; and hazard ratio for mortality outcomes was estimated using Cox regression method.
Results: The overall median survival time of patients was 5 months with the 1-year, …
Assessing Selective Export Of Fluorescent Ssa4 Reporters, Caroline Firmin, Rebecca Adams
Assessing Selective Export Of Fluorescent Ssa4 Reporters, Caroline Firmin, Rebecca Adams
Science University Research Symposium (SURS)
The process of creating proteins from mRNA is necessary for cell viability. Importantly, the proteins that are generated are differentially regulated so that the cell makes specific proteins in response to its environment. For example, mRNA is selectively exported during stress conditions to allow response to this stress. During heat shock at 42°C, in which proteins are denatured, the gene SSA4 encodes a selectively transported protein chaperone that allows refolding of denatured proteins. This study sought to explore the mechanisms of this selective export. To do this, I analyzed the expression of a fluorescent reporter wherein GFP is expressed with …
Confidence And Anxiety When Returning To Play Post-Injury, Gianna Sciarappa
Confidence And Anxiety When Returning To Play Post-Injury, Gianna Sciarappa
Honors Senior Capstone Projects
No abstract provided.
Developing Novel Remote Camera Approaches To Assess And Monitor The Population Status Of Australian Sea Lions, Mathew Hourston, Daniela Waltrick, Stuart Blight, Ainslie Denham, Alex Hesp, Steve Taylor
Developing Novel Remote Camera Approaches To Assess And Monitor The Population Status Of Australian Sea Lions, Mathew Hourston, Daniela Waltrick, Stuart Blight, Ainslie Denham, Alex Hesp, Steve Taylor
Fisheries Research Reports
This project trialled the use of remote cameras to monitor the relative abundance of Australian sea lions (ASLs, Neophoca cinerea) at three Western Australian (WA) breeding colonies. The research was undertaken by the Department of Primary Industries and Regional Development (DPIRD) to assess whether the analysis of camera footage could be used to estimate ASL relative abundance, providing an alternative to the traditional “boots on the ground” approach (hereon in “BoG”) of visiting colonies to count animals. This report outlines the strengths and limitations of this novel approach rather than providing an update on the population status of ASLs. …
Modeling Of Population Dynamics In Spatially Continuous And Heterogeneous Environments Using Partial Differential Equations, Ryan T. St. Clair
Modeling Of Population Dynamics In Spatially Continuous And Heterogeneous Environments Using Partial Differential Equations, Ryan T. St. Clair
Masters Theses & Specialist Projects
This thesis provides an expansion of existing reaction diffusion population ecology models into patchy landscapes with greater spatial heterogeneity. The Sturm-Loiville eigenvalue problem for a heterogeneous 3 patch landscape is solved implicitly and the population growth rate and migration dynamics on such a landscape are thoroughly discussed. In addition a system of interface equations is found whose greatest solution is the dominant eigenvalue of an N-patch landscape. The results of this model agree well with previously published results and show the mathematical equivalence of two published approaches for incorporating organism behavior at habitat interfaces. Increased modeling capabilities in heterogeneous environments …
Functional Analysis Of Legionella Pneumophila Effector Protein, Shreya Neupane
Functional Analysis Of Legionella Pneumophila Effector Protein, Shreya Neupane
Masters Theses & Specialist Projects
Legionella pneumophila is a gram-negative bacterium that causes Legionnaire’s disease (a severe form of pneumonia) in humans. L. pneumophila can cause infection by utilizing its Type IV secretion system, a protein secretion system that transports proteins from the bacterial cytosol into the infected macrophage. Effectors released from the Type Iv secretion system allow L. pneumophila to create a safe environment to survive, replicate and cause infection. One such effector, RavQ, inhibits cell proliferation of mammalian HEK 293T cells and localizes to the cell’s nucleus, leading us to hypothesize that RavQ interferes with cellular activity in the nucleus. To detect its …
Research Note: Association Of Single Nucleotide Polymorphism Of Akt3 With Egg Production Traits In White Muscovy Ducks (Cairina Moschata)., Semiu Folaniyi Bello, Haiping Xu, Kan Li, Lijin Guo, Siyu Zhang, Ridwan Olawale Ahmed, Endashaw Jebessa Bekele, Ming Zheng, Mingjian Xian, Bahareldin Ali Abdalla, Adeniyi Charles Adeola, Adeyinka Abiola Adetula, Raman Akinyanju Lawal, Weijian Zhu, Dexiang Zhang, Xiquan Zhang, Congliang Ji, Qinghua Nie
Research Note: Association Of Single Nucleotide Polymorphism Of Akt3 With Egg Production Traits In White Muscovy Ducks (Cairina Moschata)., Semiu Folaniyi Bello, Haiping Xu, Kan Li, Lijin Guo, Siyu Zhang, Ridwan Olawale Ahmed, Endashaw Jebessa Bekele, Ming Zheng, Mingjian Xian, Bahareldin Ali Abdalla, Adeniyi Charles Adeola, Adeyinka Abiola Adetula, Raman Akinyanju Lawal, Weijian Zhu, Dexiang Zhang, Xiquan Zhang, Congliang Ji, Qinghua Nie
Faculty Research 2022
Prior studies on transcriptomes of hypothalamus and ovary revealed that AKT3 is one of the candidate genes that might affect egg production in White Muscovy ducks. The role of AKT3 in the uterus during reproductive processes cannot be overemphasized. However, functional role of this gene in the tissues and on egg production traits of Muscovy ducks remains unknown. To identify the relationship between AKT3 and egg production traits in ducks, relative expression profile was first examined prior to identifying the variants within AKT3 that may underscore egg production traits [age at first egg (AFE), number of eggs at 300 d …
A Reference Human Induced Pluripotent Stem Cell Line For Large-Scale Collaborative Studies., Caroline B Pantazis, Andrian Yang, Erika Lara, Justin A Mcdonough, Cornelis Blauwendraat, Lirong Peng, Hideyuki Oguro, Jitendra Kanaujiya, Jizhong Zou, David Sebesta, Gretchen Pratt, Erin Cross, Jeffrey Blockwick, Philip Buxton, Lauren Kinner-Bibeau, Constance Medura, Christopher Tompkins, Stephen Hughes, Marianita Santiana, Faraz Faghri, Mike A Nalls, Daniel Vitale, Shannon Ballard, Yue A Qi, Daniel M Ramos, Kailyn M Anderson, Julia Stadler, Priyanka Narayan, Jason Papademetriou, Luke Reilly, Matthew P Nelson, Sanya Aggarwal, Leah U Rosen, Peter Kirwan, Venkat Pisupati, Steven L Coon, Sonja W Scholz, Theresa Priebe, Miriam Öttl, Jian Dong, Marieke Meijer, Lara J M Janssen, Vanessa S Lourenco, Rik Van Der Kant, Dennis Crusius, Dominik Paquet, Ana-Caroline Raulin, Guojun Bu, Aaron Held, Brian J Wainger, Rebecca M C Gabriele, Jackie M Casey, Selina Wray, Dad Abu-Bonsrah, Clare L Parish, Melinda S Beccari, Don W Cleveland, Emmy Li, Indigo V L Rose, Martin Kampmann, Carles Calatayud Aristoy, Patrik Verstreken, Laurin Heinrich, Max Y Chen, Birgitt Schüle, Dan Dou, Erika L F Holzbaur, Maria Clara Zanellati, Richa Basundra, Mohanish Deshmukh, Sarah Cohen, Richa Khanna, Malavika Raman, Zachary S Nevin, Madeline Matia, Jonas Van Lent, Vincent Timmerman, Bruce R Conklin, Katherine Johnson Chase, Ke Zhang, Salome Funes, Daryl A Bosco, Lena Erlebach, Marc Welzer, Deborah Kronenberg-Versteeg, Guochang Lyu, Ernest Arenas, Elena Coccia, Lily Sarrafha, Tim Ahfeldt, John C Marioni, William C Skarnes, Mark R Cookson, Michael E Ward, Florian T Merkle
A Reference Human Induced Pluripotent Stem Cell Line For Large-Scale Collaborative Studies., Caroline B Pantazis, Andrian Yang, Erika Lara, Justin A Mcdonough, Cornelis Blauwendraat, Lirong Peng, Hideyuki Oguro, Jitendra Kanaujiya, Jizhong Zou, David Sebesta, Gretchen Pratt, Erin Cross, Jeffrey Blockwick, Philip Buxton, Lauren Kinner-Bibeau, Constance Medura, Christopher Tompkins, Stephen Hughes, Marianita Santiana, Faraz Faghri, Mike A Nalls, Daniel Vitale, Shannon Ballard, Yue A Qi, Daniel M Ramos, Kailyn M Anderson, Julia Stadler, Priyanka Narayan, Jason Papademetriou, Luke Reilly, Matthew P Nelson, Sanya Aggarwal, Leah U Rosen, Peter Kirwan, Venkat Pisupati, Steven L Coon, Sonja W Scholz, Theresa Priebe, Miriam Öttl, Jian Dong, Marieke Meijer, Lara J M Janssen, Vanessa S Lourenco, Rik Van Der Kant, Dennis Crusius, Dominik Paquet, Ana-Caroline Raulin, Guojun Bu, Aaron Held, Brian J Wainger, Rebecca M C Gabriele, Jackie M Casey, Selina Wray, Dad Abu-Bonsrah, Clare L Parish, Melinda S Beccari, Don W Cleveland, Emmy Li, Indigo V L Rose, Martin Kampmann, Carles Calatayud Aristoy, Patrik Verstreken, Laurin Heinrich, Max Y Chen, Birgitt Schüle, Dan Dou, Erika L F Holzbaur, Maria Clara Zanellati, Richa Basundra, Mohanish Deshmukh, Sarah Cohen, Richa Khanna, Malavika Raman, Zachary S Nevin, Madeline Matia, Jonas Van Lent, Vincent Timmerman, Bruce R Conklin, Katherine Johnson Chase, Ke Zhang, Salome Funes, Daryl A Bosco, Lena Erlebach, Marc Welzer, Deborah Kronenberg-Versteeg, Guochang Lyu, Ernest Arenas, Elena Coccia, Lily Sarrafha, Tim Ahfeldt, John C Marioni, William C Skarnes, Mark R Cookson, Michael E Ward, Florian T Merkle
Faculty Research 2022
Human induced pluripotent stem cell (iPSC) lines are a powerful tool for studying development and disease, but the considerable phenotypic variation between lines makes it challenging to replicate key findings and integrate data across research groups. To address this issue, we sub-cloned candidate human iPSC lines and deeply characterized their genetic properties using whole genome sequencing, their genomic stability upon CRISPR-Cas9-based gene editing, and their phenotypic properties including differentiation to commonly used cell types. These studies identified KOLF2.1J as an all-around well-performing iPSC line. We then shared KOLF2.1J with groups around the world who tested its performance in head-to-head comparisons …
Identifying Susceptibility Genes For Essential Hypertension By Transcriptome-Wide Association Study., Lu-Jie Huang, Qiao-Xia Zhang, Robert K Valenzuela, Jia-Chen Xu, Fang Yan, Jie Ma
Identifying Susceptibility Genes For Essential Hypertension By Transcriptome-Wide Association Study., Lu-Jie Huang, Qiao-Xia Zhang, Robert K Valenzuela, Jia-Chen Xu, Fang Yan, Jie Ma
Faculty Research 2022
Hypertension is a leading risk factor of cardiovascular disease and mortality in the population worldwide. Recently, hundreds of genomic loci were reported for hypertension by GWAS, however, the most SNPs are located in intergenic regions of genome, where a functional cause is difficult to determine. In the current study, a TWAS of hypertension was conducted using 452,264 individuals including 84,640 patients. KEGG and GO enrichment analyses were performed for the hypertension-related genes identified via TWAS. PPI network analysis based on the STRING database was also performed to detect TWAS-identified genes in hypertension. We have identified 18,420 genes from the …
Early Experience With Targeted Therapy As A First-Line Adjuvant Treatment For Pediatric Low-Grade Glioma., Nathan K Leclair, William Lambert, Kimberley Roche, Eileen Gillan, Joanna J Gell, Ching C Lau, Gregory Wrubel, Joshua Knopf, Shirali Amin, Megan Anderson, Jonathan E Martin, Markus J Bookland, David S Hersh
Early Experience With Targeted Therapy As A First-Line Adjuvant Treatment For Pediatric Low-Grade Glioma., Nathan K Leclair, William Lambert, Kimberley Roche, Eileen Gillan, Joanna J Gell, Ching C Lau, Gregory Wrubel, Joshua Knopf, Shirali Amin, Megan Anderson, Jonathan E Martin, Markus J Bookland, David S Hersh
Faculty Research 2022
OBJECTIVE: Pediatric low-grade gliomas (pLGGs) frequently exhibit dysregulation of the mitogen-activated protein kinase (MAPK) pathway. Targeted therapies, including mutant BRAF inhibitors (dabrafenib) and MEK inhibitors (trametinib), have shown promise in patients in whom conventional chemotherapy has failed. However, few studies have investigated the use of targeted therapy as a first-line treatment for pLGG. Here, the authors reviewed their institutional experience with using a personalized medicine approach to patients with newly diagnosed pLGGs.
METHODS: All pediatric patients at the authors' institution who had been treated with dabrafenib or trametinib for pLGG without first receiving conventional chemotherapy or radiation were retrospectively reviewed. …
Jax-Cnv: A Whole-Genome Sequencing-Based Algorithm For Copy Number Detection At Clinical Grade Level, Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang
Jax-Cnv: A Whole-Genome Sequencing-Based Algorithm For Copy Number Detection At Clinical Grade Level, Wan-Ping Lee, Qihui Zhu, Xiaofei Yang, Silvia Liu, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Lauren Bellfy, Kai Ye, Charles Lee, Chengsheng Zhang
Faculty Research 2022
We aimed to develop a whole-genome sequencing (WGS)-based copy number variant (CNV) calling algorithm with the potential of replacing chromosomal microarray assay (CMA) for clinical diagnosis. JAX-CNV is thus developed for CNV detection from WGS data. The performance of this CNV calling algorithm was evaluated in a blinded manner on 31 samples and compared to the 112 CNVs reported by clinically validated CMAs for these 31 samples. The result showed that JAX-CNV recalled 100% of these CNVs. Besides, JAX-CNV identified an average of 30 CNVs per individual, respresenting an approximately seven-fold increase compared to calls of clinically validated CMAs. Experimental …
Phenotype-Aware Prioritisation Of Rare Mendelian Disease Variants., Catherine Kelly, Anita Szabo, Nikolas Pontikos, Gavin Arno, Peter N Robinson, Jules O B Jacobsen, Damian Smedley, Valentina Cipriani
Phenotype-Aware Prioritisation Of Rare Mendelian Disease Variants., Catherine Kelly, Anita Szabo, Nikolas Pontikos, Gavin Arno, Peter N Robinson, Jules O B Jacobsen, Damian Smedley, Valentina Cipriani
Faculty Research 2022
A molecular diagnosis from the analysis of sequencing data in rare Mendelian diseases has a huge impact on the management of patients and their families. Numerous patient phenotype-aware variant prioritisation (VP) tools have been developed to help automate this process, and shorten the diagnostic odyssey, but performance statistics on real patient data are limited. Here we identify, assess, and compare the performance of all up-to-date, freely available, and programmatically accessible tools using a whole-exome, retinal disease dataset from 134 individuals with a molecular diagnosis. All tools were able to identify around two-thirds of the genetic diagnoses as the top-ranked candidate, …
Metformin Is Associated With Reduced Covid-19 Severity In Patients With Prediabetes., Lauren E Chan, Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman, Nomi L Harris, Kenneth Wilkins, Blessy Antony, Michael Gargano, Giorgio Valentini, David Sahner, Melissa Haendel, Peter N Robinson, Carolyn Bramante, Justin Reese
Metformin Is Associated With Reduced Covid-19 Severity In Patients With Prediabetes., Lauren E Chan, Elena Casiraghi, Bryan Laraway, Ben D Coleman, Hannah Blau, Adnin Zaman, Nomi L Harris, Kenneth Wilkins, Blessy Antony, Michael Gargano, Giorgio Valentini, David Sahner, Melissa Haendel, Peter N Robinson, Carolyn Bramante, Justin Reese
Faculty Research 2022
AIMS: Studies suggest that metformin is associated with reduced COVID-19 severity in individuals with diabetes compared to other antihyperglycemics. We assessed if metformin is associated with reduced incidence of severe COVID-19 for patients with prediabetes or polycystic ovary syndrome (PCOS), common diseases that increase the risk of severe COVID-19.
METHODS: This observational, retrospective study utilized EHR data from 52 hospitals for COVID-19 patients with PCOS or prediabetes treated with metformin or levothyroxine/ondansetron (controls). After balancing via inverse probability score weighting, associations with COVID-19 severity were assessed by logistic regression.
RESULTS: In the prediabetes cohort, when compared to levothyroxine, metformin was …
Chelonia Mydas Cranium, Celina Nelson-Jordan, Bryan Weber
Chelonia Mydas Cranium, Celina Nelson-Jordan, Bryan Weber
Hirons Field Techniques
Chelonia mydas Cranium - Green Sea Turtle skull with jaw positioned agape for detail