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Articles 2311 - 2340 of 9782
Full-Text Articles in Genetics and Genomics
Temporal Lobe White Matter Asymmetry And Language Laterality In Epilepsy Patients, Nikolaos Soldatos, Huy Pham, Walid D Fakhouri, Binh Ngo, Panagiotis Lampropoulos, Tiffany Tran, Robin Weltman
Temporal Lobe White Matter Asymmetry And Language Laterality In Epilepsy Patients, Nikolaos Soldatos, Huy Pham, Walid D Fakhouri, Binh Ngo, Panagiotis Lampropoulos, Tiffany Tran, Robin Weltman
Faculty, Staff and Student Publications
(1) Background: Several studies showed a sustained temperature of 47 °C or 50 °C for one minute resulted in vascular stasis and bone resorption with only limited bone regrowth over a 3–4-week healing period. The purpose of the present study was to evaluate the temperature changes (ΔΤ) that occur during the preparation of dental implant osteotomies using MIS® straight drills versus Densah® burs in a clockwise (cutting) drilling protocol. (2) Methods: Two hundred forty (240) osteotomies of two different systems’ drills were prepared at 6 mm depth at 800, 1000, and 1200 revolutions per minute (RPM), in fresh, unembalmed tibiae, …
Invasive Group A Streptococcal Penicillin Binding Protein 2× Variants Associated With Reduced Susceptibility To Β-Lactam Antibiotics In The United States, 2015-2021, Sopio Chochua, Benjamin Metcalf, Zhongya Li, Saundra Mathis, Theresa Tran, Joy Rivers, Katherine E Fleming-Dutra, Yuan Li, Lesley Mcgee, Bernard Beall
Invasive Group A Streptococcal Penicillin Binding Protein 2× Variants Associated With Reduced Susceptibility To Β-Lactam Antibiotics In The United States, 2015-2021, Sopio Chochua, Benjamin Metcalf, Zhongya Li, Saundra Mathis, Theresa Tran, Joy Rivers, Katherine E Fleming-Dutra, Yuan Li, Lesley Mcgee, Bernard Beall
Faculty, Staff and Student Publications
All known group A streptococci [GAS] are susceptible to β-lactam antibiotics. We recently identified an invasive GAS (iGAS) variant (emm43.4/PBP2x-T553K) with unusually high minimum inhibitory concentrations (MICs) for ampicillin and amoxicillin, although clinically susceptible to β-lactams. We aimed to quantitate PBP2x variants, small changes in β-lactam MICs, and lineages within contemporary population-based iGAS. PBP2x substitutions were comprehensively identified among 13,727 iGAS recovered during 2015-2021, in the USA. Isolates were subjected to antimicrobial susceptibility testing employing low range agar diffusion and PBP2x variants were subjected to phylogenetic analyses. Fifty-five variants were defined based upon substitutions within an assigned PBP2x …
Variability And Genetic Structure Of The Montezuma Quail Cyrtonyx Montezumae In The Northern Limit Of Its Distribution, Eduardo Sánchez Murrieta, Alberto Macías-Duarte, Reyna A. Castillo-Gámez, Angel B. Montoya, Alejandro Varela-Romero, Nohelia G. Pacheco Hoyos
Variability And Genetic Structure Of The Montezuma Quail Cyrtonyx Montezumae In The Northern Limit Of Its Distribution, Eduardo Sánchez Murrieta, Alberto Macías-Duarte, Reyna A. Castillo-Gámez, Angel B. Montoya, Alejandro Varela-Romero, Nohelia G. Pacheco Hoyos
National Quail Symposium Proceedings
A species’ geographic distribution of genetic variability is influenced by different factors including size of geographic distribution, dispersal capability, mating system, and migration. For instance, a low migration rate among populations may cause a decrease in genetic variation. Such is the case of the Montezuma quail (Cyrtonyx montezumae), a popular game bird with a limited flight capacity that prevents long-distance dispersal. In the northern limit of the species’ distribution in Arizona, New Mexico, and Texas in the United States, the species inhabits oak forests that are separated from one another by deserts. Consequently, Montezuma quail populations are distributed …
“Stripe” Transcription Factors Provide Accessibility To Co-Binding Partners In Mammalian Genomes, Yongbing Zhao, Supriya V Vartak, Andrea Conte, Xiang Wang, David A Garcia, Evan Stevens, Seol Kyoung Jung, Kyong-Rim Kieffer-Kwon, Laura Vian, Timothy Stodola, Francisco Moris, Laura Chopp, Silvia Preite, Pamela L Schwartzberg, Joseph M Kulinski, Ana Olivera, Christelle Harly, Avinash Bhandoola, Elisabeth F Heuston, David M Bodine, Raul Urrutia, Arpita Upadhyaya, Matthew T Weirauch, Gordon Hager, Rafael Casellas
“Stripe” Transcription Factors Provide Accessibility To Co-Binding Partners In Mammalian Genomes, Yongbing Zhao, Supriya V Vartak, Andrea Conte, Xiang Wang, David A Garcia, Evan Stevens, Seol Kyoung Jung, Kyong-Rim Kieffer-Kwon, Laura Vian, Timothy Stodola, Francisco Moris, Laura Chopp, Silvia Preite, Pamela L Schwartzberg, Joseph M Kulinski, Ana Olivera, Christelle Harly, Avinash Bhandoola, Elisabeth F Heuston, David M Bodine, Raul Urrutia, Arpita Upadhyaya, Matthew T Weirauch, Gordon Hager, Rafael Casellas
Faculty, Staff and Student Publications
Regulatory elements activate promoters by recruiting transcription factors (TFs) to specific motifs. Notably, TF-DNA interactions often depend on cooperativity with colocalized partners, suggesting an underlying cis-regulatory syntax. To explore TF cooperativity in mammals, we analyze ∼500 mouse and human primary cells by combining an atlas of TF motifs, footprints, ChIP-seq, transcriptomes, and accessibility. We uncover two TF groups that colocalize with most expressed factors, forming stripes in hierarchical clustering maps. The first group includes lineage-determining factors that occupy DNA elements broadly, consistent with their key role in tissue-specific transcription. The second one, dubbed universal stripe factors (USFs), comprises ∼30 SP, …
Development And Characterization Of Type I Interferon Receptor Knockout Sheep: A Model For Viral Immunology And Reproductive Signaling, Christopher J. Davies, Zhiqiang Fan, Kira P. Morgado, Ying Liu, Misha Regouski, Qinggang Meng, Aaron J. Thomas, Sang-Im Yun, Byung-Hak Song, Jordan C. Frank, Iuri V. Perisse, Arnaud Van Wettere, Young-Min Lee, Irina A. Polejaeva
Development And Characterization Of Type I Interferon Receptor Knockout Sheep: A Model For Viral Immunology And Reproductive Signaling, Christopher J. Davies, Zhiqiang Fan, Kira P. Morgado, Ying Liu, Misha Regouski, Qinggang Meng, Aaron J. Thomas, Sang-Im Yun, Byung-Hak Song, Jordan C. Frank, Iuri V. Perisse, Arnaud Van Wettere, Young-Min Lee, Irina A. Polejaeva
Animal, Dairy, and Veterinary Science Faculty Publications
Type I interferons (IFNs) initiate immune responses to viral infections. Their effects are mediated by the type I IFN receptor, IFNAR, comprised of two subunits: IFNAR1 and IFNAR2. One or both chains of the sheep IFNAR were disrupted in fetal fibroblast lines using CRISPR/Cas9 and 12 lambs were produced by somatic cell nuclear transfer (SCNT). Quantitative reverse transcription-polymerase chain reaction for IFN-stimulated gene expression showed that IFNAR deficient sheep fail to respond to IFN-alpha. Furthermore, fibroblast cells from an IFNAR2−/− fetus supported significantly higher levels of Zika virus (ZIKV) replication than wild-type fetal fibroblast cells. Although many lambs have …
Neural And Cardiac Mechanisms In Friedreich's Ataxia With Patient-Derived Ipscs, Mariana Burgos Angulo
Neural And Cardiac Mechanisms In Friedreich's Ataxia With Patient-Derived Ipscs, Mariana Burgos Angulo
USF Tampa Graduate Theses and Dissertations
Friedreich's ataxia (FA) is an autosomal recessive disease caused, in most cases, by a GAA trinucleotide repeat expansion in the first intron of the frataxin (FXN) gene, which results in transcriptional repression of the encoded protein frataxin. FA is a progressive neurodegenerative disorder, but the primary cause of death is hypertrophic cardiomyopathy, which occurs in 60% of the patients. Several functions of frataxin have been proposed, but none of them can fully explain why its deficiency causes the FA phenotypes nor why the most affected cell types are neurons and cardiomyocytes. It is possible that frataxin affects neural and cardiac …
Evaluation Of The Effects Of Wood-Sourced Biochar As A Feedlot Pen Surface Amendment On Manure Nutrient Capture, Jessica L. Sperber, Galen E. Erickson, Andrea K. Watson
Evaluation Of The Effects Of Wood-Sourced Biochar As A Feedlot Pen Surface Amendment On Manure Nutrient Capture, Jessica L. Sperber, Galen E. Erickson, Andrea K. Watson
Department of Animal Science: Faculty Publications
Feedstuffs utilized in U.S. feedlot finishing rations incorporate high concentrations of N and P, with less than 15% of fed N and P retained by the animal. The remaining N and P are excreted in the manure, where the opportunity for manure N loss via ammonia (NH3) volatilization from the feedlot pen surface is a risk to the environment and lowers the value of manure as a fertilizer. Two nutrient mass balance experiments were conducted during the winter and summer seasons to evaluate the effects of spreading unprocessed Eastern red cedar biochar onto the feedlot pen surface on manure nutrient …
Ungulate Herbivores As Drivers Of Aspen Recruitment And Understory Composition Throughout Arid Montane Landscapes, Elizabeth S. Reikowski, Tyler Refsland, J. Hall Cushman
Ungulate Herbivores As Drivers Of Aspen Recruitment And Understory Composition Throughout Arid Montane Landscapes, Elizabeth S. Reikowski, Tyler Refsland, J. Hall Cushman
Aspen Bibliography
Herbivory by wild and domestic ungulates can influence tree recruitment and understory forest communities throughout the world. Herbivore-driven declines in tree recruitment have been observed for quaking aspen (Populus tremuloides), a foundation species whose health and management is recognized as a critical priority throughout much of its range. Livestock fencing is commonly used to promote aspen regeneration, but its effectiveness is rarely assessed, especially across large spatial scales. Using a livestock-reduction experiment, we evaluated the effects of ungulate herbivory on aspen in the Great Basin and southern Cascades, an expansive and environmentally heterogeneous region where aspen faces the …
Heterogeneity In The Prevalence Of Premature Hypertension Among Asian American Populations Compared With White Individuals: A National Health Interview Survey Study, Sina Kianoush, Mahmoud Al Rifai, Anwar T. Merchant, Xiaoming Jia, Zainab Samad, Aneil Bhalla, Ayesha Khan, Dongshan Zhu, Salim S. Virani
Heterogeneity In The Prevalence Of Premature Hypertension Among Asian American Populations Compared With White Individuals: A National Health Interview Survey Study, Sina Kianoush, Mahmoud Al Rifai, Anwar T. Merchant, Xiaoming Jia, Zainab Samad, Aneil Bhalla, Ayesha Khan, Dongshan Zhu, Salim S. Virani
Section of Cardiology
Background: Differences in prevalence of risk factors such as hypertension may explain heterogeneity in cardiovascular risk across Asian American populations.
Methods: We used National Health Interview Survey (NHIS) data from 2006 to 2018 among White, Chinese, Asian Indian, Filipino, and 'other Asians' (Japanese, Korean, and Vietnamese). Unadjusted and adjusted odds ratios (aOR) with 95% confidence intervals were reported using logistic regression models for the association between race and self-reported premature hypertension (age old). Models were adjusted for sex, education, body mass index, smoking status, diabetes, and coronary heart disease.
Results: We studied 99,864 participants with history of hypertension (mean age, …
Novel Therapeutic Strategies For Alzheimer’S Disease: Prostaglandin D2 Signaling And Its Human Polymorphisms As Well As A Polypharmacological Approach, Charles H. Wallace
Novel Therapeutic Strategies For Alzheimer’S Disease: Prostaglandin D2 Signaling And Its Human Polymorphisms As Well As A Polypharmacological Approach, Charles H. Wallace
Dissertations, Theses, and Capstone Projects
Alzheimer’s disease (AD) is an age related neurodegenerative disease with pathology that includes amyloid plaques, neurofibrillary tangles and non-resolving neuroinflammation. Non-resolving neuroinflammation lasts the entire course of the disease and has deleterious effects and is often thought to accelerate AD pathology. Non-Steroidal Anti-inflammatory Drugs (NSAIDs) have commonly been used as therapeutics to treat pain, inflammation and vascular. NSAIDs work by altering the cyclooxygenase (COX) mediated biosynthesis of prostaglandins which are lipid mediators that have many physiological functions, for example nociception, inflammation and vasodilation. Epidemiological studies support the notion that NSAIDs could be used to treat AD. Yet, clinical trials using …
Elucidation Of Gene Essentiality And Genetic Determinants Of Intrinsic P-Aminosalicylic Acid Resistance In Mycobacterium Kansasii, Keith J. Levendosky
Elucidation Of Gene Essentiality And Genetic Determinants Of Intrinsic P-Aminosalicylic Acid Resistance In Mycobacterium Kansasii, Keith J. Levendosky
Dissertations, Theses, and Capstone Projects
Mycobacterium kansasii (Mk) is an opportunistic pathogen capable of causing tuberculosis-like pulmonary disease in immunocompromised individuals and those with other risk factors including chronic obstructive pulmonary disease or malignancy. Mk is frequently isolated from man-made water sources where it forms resilient biofilms, posing a health risk to these susceptible individuals. Despite its medical relevance as an environmental pathogen, and a close phylogenetic relationship with the obligate pathogen Mycobacterium tuberculosis (Mtb), few studies to date have probed the molecular biology and genetics of Mk. Here, we sought to apply a transposon (Tn) mutagenesis tool to dissect …
Genetic Loci And Prioritization Of Genes For Kidney Function Decline Derived From A Meta-Analysis Of 62 Longitudinal Genome-Wide Association Studies, Mathias Gorski, Humaira Rasheed, Alexander Teumer, Laurent F Thomas, Sarah E Graham, Gardar Sveinbjornsson, Thomas W Winkler, Felix Günther, Klaus J Stark, Jin-Fang Chai, Bamidele O Tayo, Matthias Wuttke, Yong Li, Adrienne Tin, Tarunveer S Ahluwalia, Johan Ärnlöv, Bjørn Olav Åsvold, Stephan J L Bakker, Bernhard Banas, Nisha Bansal, Mary L Biggs, Ginevra Biino, Michael Böhnke, Eric Boerwinkle, Erwin P Bottinger, Hermann Brenner, Ben Brumpton, Robert J Carroll, Layal Chaker, John Chalmers, Miao-Li Chee, Miao-Ling Chee, Ching-Yu Cheng, Audrey Y Chu, Marina Ciullo, Massimiliano Cocca, James P Cook, Josef Coresh, Daniele Cusi, Martin H De Borst, Frauke Degenhardt, Kai-Uwe Eckardt, Karlhans Endlich, Michele K Evans, Mary F Feitosa, Andre Franke, Sandra Freitag-Wolf, Christian Fuchsberger, Piyush Gampawar, Ron T Gansevoort, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Christian Gieger, Daniel F Gudbjartsson, Stein Hallan, Pavel Hamet, Asahi Hishida, Kevin Ho, Edith Hofer, Bernd Holleczek, Hilma Holm, Anselm Hoppmann, Katrin Horn, Nina Hutri-Kähönen, Kristian Hveem, Shih-Jen Hwang, M Arfan Ikram, Navya Shilpa Josyula, Bettina Jung, Mika Kähönen, Irma Karabegović, Chiea-Chuen Khor, Wolfgang Koenig, Holly Kramer, Bernhard K Krämer, Brigitte Kühnel, Johanna Kuusisto, Markku Laakso, Leslie A Lange, Terho Lehtimäki, Man Li, Wolfgang Lieb, Lifelines Cohort Study, Lars Lind, Cecilia M Lindgren, Ruth J F Loos, Mary Ann Lukas, Leo-Pekka Lyytikäinen, Anubha Mahajan, Pamela R Matias-Garcia, Christa Meisinger, Thomas Meitinger, Olle Melander, Yuri Milaneschi, Pashupati P Mishra, Nina Mononen, Andrew P Morris, Josyf C Mychaleckyj, Girish N Nadkarni, Mariko Naito, Masahiro Nakatochi, Mike A Nalls, Matthias Nauck, Kjell Nikus, Boting Ning, Ilja M Nolte, Teresa Nutile, Michelle L O'Donoghue, Jeffrey O'Connell, Isleifur Olafsson, Marju Orho-Melander, Afshin Parsa, Sarah A Pendergrass, Brenda W J H Penninx, Mario Pirastu, Michael H Preuss, Bruce M Psaty, Laura M Raffield, Olli T Raitakari, Myriam Rheinberger, Kenneth M Rice, Federica Rizzi, Alexander R Rosenkranz, Peter Rossing, Jerome I Rotter, Daniela Ruggiero, Kathleen A Ryan, Charumathi Sabanayagam, Erika Salvi, Helena Schmidt, Reinhold Schmidt, Markus Scholz, Ben Schöttker, Christina-Alexandra Schulz, Sanaz Sedaghat, Christian M Shaffer, Karsten B Sieber, Xueling Sim, Mario Sims, Harold Snieder, Kira J Stanzick, Unnur Thorsteinsdottir, Hannah Stocker, Konstantin Strauch, Heather M Stringham, Patrick Sulem, Silke Szymczak, Kent D Taylor, Chris H L Thio, Johanne Tremblay, Simona Vaccargiu, Pim Van Der Harst, Peter J Van Der Most, Niek Verweij, Uwe Völker, Kenji Wakai, Melanie Waldenberger, Lars Wallentin, Stefan Wallner, Judy Wang, Dawn M Waterworth, Harvey D White, Cristen J Willer, Tien-Yin Wong, Mark Woodward, Qiong Yang, Laura M Yerges-Armstrong, Martina Zimmermann, Alan B Zonderman, Tobias Bergler, Kari Stefansson, Carsten A Böger, Cristian Pattaro, Anna Köttgen, Florian Kronenberg, Iris M Heid
Genetic Loci And Prioritization Of Genes For Kidney Function Decline Derived From A Meta-Analysis Of 62 Longitudinal Genome-Wide Association Studies, Mathias Gorski, Humaira Rasheed, Alexander Teumer, Laurent F Thomas, Sarah E Graham, Gardar Sveinbjornsson, Thomas W Winkler, Felix Günther, Klaus J Stark, Jin-Fang Chai, Bamidele O Tayo, Matthias Wuttke, Yong Li, Adrienne Tin, Tarunveer S Ahluwalia, Johan Ärnlöv, Bjørn Olav Åsvold, Stephan J L Bakker, Bernhard Banas, Nisha Bansal, Mary L Biggs, Ginevra Biino, Michael Böhnke, Eric Boerwinkle, Erwin P Bottinger, Hermann Brenner, Ben Brumpton, Robert J Carroll, Layal Chaker, John Chalmers, Miao-Li Chee, Miao-Ling Chee, Ching-Yu Cheng, Audrey Y Chu, Marina Ciullo, Massimiliano Cocca, James P Cook, Josef Coresh, Daniele Cusi, Martin H De Borst, Frauke Degenhardt, Kai-Uwe Eckardt, Karlhans Endlich, Michele K Evans, Mary F Feitosa, Andre Franke, Sandra Freitag-Wolf, Christian Fuchsberger, Piyush Gampawar, Ron T Gansevoort, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Christian Gieger, Daniel F Gudbjartsson, Stein Hallan, Pavel Hamet, Asahi Hishida, Kevin Ho, Edith Hofer, Bernd Holleczek, Hilma Holm, Anselm Hoppmann, Katrin Horn, Nina Hutri-Kähönen, Kristian Hveem, Shih-Jen Hwang, M Arfan Ikram, Navya Shilpa Josyula, Bettina Jung, Mika Kähönen, Irma Karabegović, Chiea-Chuen Khor, Wolfgang Koenig, Holly Kramer, Bernhard K Krämer, Brigitte Kühnel, Johanna Kuusisto, Markku Laakso, Leslie A Lange, Terho Lehtimäki, Man Li, Wolfgang Lieb, Lifelines Cohort Study, Lars Lind, Cecilia M Lindgren, Ruth J F Loos, Mary Ann Lukas, Leo-Pekka Lyytikäinen, Anubha Mahajan, Pamela R Matias-Garcia, Christa Meisinger, Thomas Meitinger, Olle Melander, Yuri Milaneschi, Pashupati P Mishra, Nina Mononen, Andrew P Morris, Josyf C Mychaleckyj, Girish N Nadkarni, Mariko Naito, Masahiro Nakatochi, Mike A Nalls, Matthias Nauck, Kjell Nikus, Boting Ning, Ilja M Nolte, Teresa Nutile, Michelle L O'Donoghue, Jeffrey O'Connell, Isleifur Olafsson, Marju Orho-Melander, Afshin Parsa, Sarah A Pendergrass, Brenda W J H Penninx, Mario Pirastu, Michael H Preuss, Bruce M Psaty, Laura M Raffield, Olli T Raitakari, Myriam Rheinberger, Kenneth M Rice, Federica Rizzi, Alexander R Rosenkranz, Peter Rossing, Jerome I Rotter, Daniela Ruggiero, Kathleen A Ryan, Charumathi Sabanayagam, Erika Salvi, Helena Schmidt, Reinhold Schmidt, Markus Scholz, Ben Schöttker, Christina-Alexandra Schulz, Sanaz Sedaghat, Christian M Shaffer, Karsten B Sieber, Xueling Sim, Mario Sims, Harold Snieder, Kira J Stanzick, Unnur Thorsteinsdottir, Hannah Stocker, Konstantin Strauch, Heather M Stringham, Patrick Sulem, Silke Szymczak, Kent D Taylor, Chris H L Thio, Johanne Tremblay, Simona Vaccargiu, Pim Van Der Harst, Peter J Van Der Most, Niek Verweij, Uwe Völker, Kenji Wakai, Melanie Waldenberger, Lars Wallentin, Stefan Wallner, Judy Wang, Dawn M Waterworth, Harvey D White, Cristen J Willer, Tien-Yin Wong, Mark Woodward, Qiong Yang, Laura M Yerges-Armstrong, Martina Zimmermann, Alan B Zonderman, Tobias Bergler, Kari Stefansson, Carsten A Böger, Cristian Pattaro, Anna Köttgen, Florian Kronenberg, Iris M Heid
Faculty, Staff and Student Publications
Estimated glomerular filtration rate (eGFR) reflects kidney function. Progressive eGFR-decline can lead to kidney failure, necessitating dialysis or transplantation. Hundreds of loci from genome-wide association studies (GWAS) for eGFR help explain population cross section variability. Since the contribution of these or other loci to eGFR-decline remains largely unknown, we derived GWAS for annual eGFR-decline and meta-analyzed 62 longitudinal studies with eGFR assessed twice over time in all 343,339 individuals and in high-risk groups. We also explored different covariate adjustment. Twelve genome-wide significant independent variants for eGFR-decline unadjusted or adjusted for eGFR-baseline (11 novel, one known for this phenotype), including nine …
Cell-Intrinsic Melanin Fails To Protect Melanocytes From Ultraviolet-Mutagenesis In The Absence Of Epidermal Melanin, Tirzah J. Weiss, Emma R. Crawford, Valentina Posada, Hafeez Rahman, Tong Liu, Brandon M. Murphy, Tiffany E. Arnold, Shannon Gray, Zhexuan Hu, Rebecca C. Hennessey, Lianbo Yu, John August D'Orazio, Craig J. Burd, Jonathan H. Zippin, Douglas Grossman, Christin E. Burd
Cell-Intrinsic Melanin Fails To Protect Melanocytes From Ultraviolet-Mutagenesis In The Absence Of Epidermal Melanin, Tirzah J. Weiss, Emma R. Crawford, Valentina Posada, Hafeez Rahman, Tong Liu, Brandon M. Murphy, Tiffany E. Arnold, Shannon Gray, Zhexuan Hu, Rebecca C. Hennessey, Lianbo Yu, John August D'Orazio, Craig J. Burd, Jonathan H. Zippin, Douglas Grossman, Christin E. Burd
Markey Cancer Center Faculty Publications
Melanin is a free-radical scavenger, antioxidant, and broadband absorber of ultraviolet (UV) radiation which protects the skin from environmental carcinogenesis. However, melanin synthesis and UV-induced reactive melanin species are also implicated in melanocyte genotoxicity. Here, we attempted to reconcile these disparate functions of melanin using a UVB- sensitive, NRAS-mutant mouse model, TpN. We crossed TpN mice heterozygous for an inactivating mutation in Tyrosinase to produce albino and black littermates on a C57BL/6J background. These animals were then exposed to a single UVB dose on postnatal day three when keratinocytes in the skin have yet to be melanized. Approximately one-third (35%) …
Patient-Specific Genome-Scale Metabolic Models For Individualized Predictions Of Liver Disease, Alexandra Manchel, Jan B. Hoek, Ramon Bataller, Radhakrishnan Mahadevan, Rajanikanth Vadigepalli
Patient-Specific Genome-Scale Metabolic Models For Individualized Predictions Of Liver Disease, Alexandra Manchel, Jan B. Hoek, Ramon Bataller, Radhakrishnan Mahadevan, Rajanikanth Vadigepalli
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
The prevalence of liver disease is steadily increasing, coupled with the limited availability of therapeutic treatments. Recent literature points to metabolic reprogramming as a key feature of liver failure. Hence, we sought to uncover the metabolic pathways and mechanisms associated with liver disease and acute liver failure. We generated patient-specific genome scale metabolic models by integrating RNA-seq data from patient liver samples with a generalized human metabolic model. Flux balance analysis simulations showed a distinct separation of non-alcohol associated and alcohol-associated disease states. Our analysis suggests that the alcohol associated liver has an increased flux through nucleotide and glycerophospholipid metabolic …
Lower Fetal Fraction In Clinical Cell-Free Dna (Cfdna) Screening Results Is Associated With Increased Risk Of Hypertensive Disorders Of Pregnancy, Deeksha Madala, Mohamad Ali Maktabi, Riwa Sabbagh, Hadi Erfani, Andrea Moon, Ignatia B Van Den Veyver
Lower Fetal Fraction In Clinical Cell-Free Dna (Cfdna) Screening Results Is Associated With Increased Risk Of Hypertensive Disorders Of Pregnancy, Deeksha Madala, Mohamad Ali Maktabi, Riwa Sabbagh, Hadi Erfani, Andrea Moon, Ignatia B Van Den Veyver
Faculty, Staff and Students Publications
OBJECTIVE: To evaluate if fetal fraction (FF) reported on cell-free DNA (cfDNA) screening is a marker for adverse obstetric outcomes.
METHODS: We retrospectively reviewed medical records from a cohort of women with singleton pregnancies who had cfDNA screening. We evaluated if reported FF could predict the following pregnancy complications: hypertensive disorders of pregnancy (HDP), fetal growth restriction, preterm delivery, gestational diabetes mellitus, or a composite maternal morbidity, defined as the presence of at least one of these outcomes.
RESULTS: Receiver operating curve analysis was performed on FF from 534 women to define the FF that differentiated a low FF group …
The Utilization Of Crispr/Cas9 In Monogenic Disorders Authors, Shauna M. Mellor
The Utilization Of Crispr/Cas9 In Monogenic Disorders Authors, Shauna M. Mellor
Spectra Undergraduate Research Journal
This paper is a literature review of various scientific research papers, exploring the recent scientific advancement in the field of genetic engineering. The research presented is a foundational tool, building awareness on the implications of CRISPR/ Cas9 technology. CRISPR/ Cas9 was first discovered through the study of bacterial immune systems, fighting against viral infections. Manipulation of the Cas9 protein would eventually lead to target specific, gene-altering medicines for human organisms. CRISPR/ Cas 9 technology has begun to show promise as an effective treatment for certain monogenic disorders. Despite this, time is required before its efficacy as a proven genetic treatment …
Comparative Risks Of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease, Ellen S Regalado, Shaine A Morris, Alan C Braverman, Ellen M Hostetler, Julie De Backer, Ruosha Li, Reed E Pyeritz, Anji T Yetman, Elena Cervi, Sherene Shalhub, Richmond Jeremy, Scott Lemaire, Maral Ouzounian, Arturo Evangelista, Catherine Boileau, Guillaume Jondeau, Dianna M Milewicz
Comparative Risks Of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease, Ellen S Regalado, Shaine A Morris, Alan C Braverman, Ellen M Hostetler, Julie De Backer, Ruosha Li, Reed E Pyeritz, Anji T Yetman, Elena Cervi, Sherene Shalhub, Richmond Jeremy, Scott Lemaire, Maral Ouzounian, Arturo Evangelista, Catherine Boileau, Guillaume Jondeau, Dianna M Milewicz
Faculty, Staff and Student Publications
BACKGROUND: Pathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available to stratify the risk for aortic events associated with these genes.
OBJECTIVES: This study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic dissection, among 7 HTAD genes and variant types within each gene.
METHODS: A retrospective cohort of probands and relatives with rare variants in 7 genes for HTAD (n = 1,028) was assessed for the risk of first aortic events based on the gene altered, pathogenic variant type, sex, proband status, …
Polymorphism & Parasites: Structure, Diversity And Selection Of The Mhcii Genes In A Weakly Electric Fish, Brachyhypopomus Occidentalis, Bruna L. Silva
Polymorphism & Parasites: Structure, Diversity And Selection Of The Mhcii Genes In A Weakly Electric Fish, Brachyhypopomus Occidentalis, Bruna L. Silva
Graduate Masters Theses
The major histocompatibility complex (MHC) class II molecules play a key role in inducing an immune response, by presenting foreign peptides to T-lymphocytes. They are considered one of the most polymorphic genes in the vertebrate genome and diversity has been associated with species diversification mediated by parasite, viral and bacterial infections. While MHC genes are well documented in teleost fish, none thus far have been described in the Gymnotiform order – a highly diverse group of neotropical electric fishes. Using a combination of a recently annotated genome and whole genome resequencing data, I identified and characterized both the classical MHCII …
Evaluation Of Vicinity-Based Hidden Markov Models For Genotype Imputation, Su Wang, Miran Kim, Xiaoqian Jiang, Arif Ozgun Harmanci
Evaluation Of Vicinity-Based Hidden Markov Models For Genotype Imputation, Su Wang, Miran Kim, Xiaoqian Jiang, Arif Ozgun Harmanci
Faculty, Staff and Student Publications
BACKGROUND: The decreasing cost of DNA sequencing has led to a great increase in our knowledge about genetic variation. While population-scale projects bring important insight into genotype-phenotype relationships, the cost of performing whole-genome sequencing on large samples is still prohibitive. In-silico genotype imputation coupled with genotyping-by-arrays is a cost-effective and accurate alternative for genotyping of common and uncommon variants. Imputation methods compare the genotypes of the typed variants with the large population-specific reference panels and estimate the genotypes of untyped variants by making use of the linkage disequilibrium patterns. Most accurate imputation methods are based on the Li-Stephens hidden Markov …
Redundancy And Developmental Coordination In Myxococcus Xanthus: Insights From The Phenome, Jessica A. Comstock
Redundancy And Developmental Coordination In Myxococcus Xanthus: Insights From The Phenome, Jessica A. Comstock
Dissertations - ALL
Genotype-to-phenotype mapping can typically involve disrupting the function of a gene and observing the impact of mutation on phenotype. While this can be a powerful tool for uncovering gene function, complicating factors such as influences between genes and the environment, epistatic interactions with other genes, and genetic redundancy could all potentially mask the phenotype of a mutation such that functional inferences cannot be made. On the level of the single gene, this may not be particularly informative, but it is possible that studying phenotype in this way at a genome scale might allow for the observation of patterns between genes …
Using Direct Pcr For Disaster Victim Identification Reference Samples, Mary Habib
Using Direct Pcr For Disaster Victim Identification Reference Samples, Mary Habib
Student Theses
Forensic genetic testing is an important tool for the identification of victims after a mass fatality event but degradation of remains, presence of PCR inhibitors, and limited amounts of sample can make testing difficult. Standard protocols typically include extraction of genetic material from recovered post-mortem samples, and from ante-mortem reference samples or families of a missing person. This is a time-consuming and laborious process and may result in the loss of trace amounts of DNA available for amplification. Incorporating workflows that bypass the extraction step and directly amplify recovered DNA for short tandem repeat (STR) profile generation has the potential …
Whole Genome Association Study Of The Plasma Metabolome Identifies Metabolites Linked To Cardiometabolic Disease In Black Individuals, Usman A. Tahir, Daniel H. Katz, Julian Avila-Pachecho, Alexander G. Bick, Akhil Pampana, John Blangero, Joanne Curran, Juan M. Peralta, Harald H. H. Goring, Michael Mahaney
Whole Genome Association Study Of The Plasma Metabolome Identifies Metabolites Linked To Cardiometabolic Disease In Black Individuals, Usman A. Tahir, Daniel H. Katz, Julian Avila-Pachecho, Alexander G. Bick, Akhil Pampana, John Blangero, Joanne Curran, Juan M. Peralta, Harald H. H. Goring, Michael Mahaney
School of Medicine Publications
Integrating genetic information with metabolomics has provided new insights into genes affecting human metabolism. However, gene-metabolite integration has been primarily studied in individuals of European Ancestry, limiting the opportunity to leverage genomic diversity for discovery. In addition, these analyses have principally involved known metabolites, with the majority of the profiled peaks left unannotated. Here, we perform a whole genome association study of 2,291 metabolite peaks (known and unknown features) in 2,466 Black individuals from the Jackson Heart Study. We identify 519 locus-metabolite associations for 427 metabolite peaks and validate our findings in two multi-ethnic cohorts. A significant proportion of these …
Mechanisms Of Carbapenemase-Mediated Resistance Among High-Risk Pseudomonas Aeruginosa Lineages In Peru, Isabella A. Tickler, Juan Carlos Gomez De La Torre, Luis Alvarado, Anne E. Obradovich, Fred C. Tenover
Mechanisms Of Carbapenemase-Mediated Resistance Among High-Risk Pseudomonas Aeruginosa Lineages In Peru, Isabella A. Tickler, Juan Carlos Gomez De La Torre, Luis Alvarado, Anne E. Obradovich, Fred C. Tenover
Biology Faculty Publications
Objectives: Pseudomonas aeruginosa is one of the leading causes of healthcare-associated infections globally. High-risk carbapenemase-encoding P. aeruginosa clones are disseminating in many regions. The aim of this study was to learn more about the lineages and mechanisms of resistance of P. aeruginosa circulating in Peru.
Methods: A total of 141 carbapenemase-producing isolates recovered from hospitalized and ambulatory patients in Lima were sequenced and analyzed to infer their lineages through whole-genome sequence typing (wgST) and to identify their antimicrobial resistance genes.
Results: wgST identified nine sequence types (STs); ST111 and ST357 were the most frequently encountered (44.0% and 38.3%, respectively), followed …
Microbial Dimension Of Symbiosis And Dysbiosis In Fungus–Gardening Ants, Blake S. Bringhurst
Microbial Dimension Of Symbiosis And Dysbiosis In Fungus–Gardening Ants, Blake S. Bringhurst
Biology Theses
With symbiotic partners, the means by which a host obtain a symbiont influence the specificity between the host and the symbiont. One such system where symbiont specificity is seen to varying degrees is with higher attine ants. Higher attine ants have symbiotic relationships with the fungal cultivar they grow and the bacterial symbionts in their microbiomes. Among the higher attines, there are two broad groups of fungi. Most ants in the genus Trachymyrmex tend to grow Clade–B fungi, which are a group of undescribed Leucocoprinus species, while leaf–cutting ants in the genera Acromyrmex and Atta tend to grow Clade–A fungi …
Rna-As-Graphs Motif Atlas—Dual Graph Library Of Rna Modules And Viral Frameshifting-Element Applications, Qiyao Zhu, Louis Petingi, Tamar Schlick
Rna-As-Graphs Motif Atlas—Dual Graph Library Of Rna Modules And Viral Frameshifting-Element Applications, Qiyao Zhu, Louis Petingi, Tamar Schlick
Publications and Research
RNA motif classification is important for understanding structure/function connections and building phylogenetic relationships. Using our coarse-grained RNA-As-Graphs (RAG) representations, we identify recurrent dual graph motifs in experimentally solved RNA structures based on an improved search algorithm that finds and ranks independent RNA substructures. Our expanded list of 183 existing dual graph motifs reveals five common motifs found in transfer RNA, riboswitch, and ribosomal 5S RNA components. Moreover, we identify three motifs for available viral frameshifting RNA elements, suggesting a correlation between viral structural complexity and frameshifting efficiency. We further partition the RNA substructures into 1844 distinct submotifs, with pseudoknots and …
Association Between The Baseline Gene Expression Profile In Periapical Granuloma And Periapical Wound Healing After Surgical Endodontic Treatment, Muhammad Adeel Ahmed, Fizza Nazim, Khalid Ahmed, Muhammad Furqan Bari, Abdulaziz Abdulwahed, Ahmed A. Almokhatieb, Yaseen Alalvi, Tariq Abduljabbar, Muhammad Nouman Mughal, Syed Hani Abidi
Association Between The Baseline Gene Expression Profile In Periapical Granuloma And Periapical Wound Healing After Surgical Endodontic Treatment, Muhammad Adeel Ahmed, Fizza Nazim, Khalid Ahmed, Muhammad Furqan Bari, Abdulaziz Abdulwahed, Ahmed A. Almokhatieb, Yaseen Alalvi, Tariq Abduljabbar, Muhammad Nouman Mughal, Syed Hani Abidi
Department of Biological & Biomedical Sciences
In this study, we have investigated the association between the baseline gene expression profile in periapical granuloma and periapical wound healing after surgical endodontic treatment. Twenty-seven patients aged between 15 and 57 years underwent periapical surgery. The retrieved periapical tissue sample was used for mRNA expression analysis of COL1A1, VTN, ITGA5, IL-4, TNF, ANGPT, VEGFA, and CTGF. All patients were recalled after 6 and 12 months for periapical healing evaluation. Healing was then correlated with baseline gene expression. Healing was observed in 15 patients at the end of 6 months, which increased to 21 patients after 12 months. Six patients …
Novel Signal Sequences And Fusion Partners For Paratransgenesis In Asaia, Christina Grogan
Novel Signal Sequences And Fusion Partners For Paratransgenesis In Asaia, Christina Grogan
Electronic Theses and Dissertations
Mosquitoes transmit many pathogens that cause human disease. One such disease, malaria, is caused by parasites in the genus Plasmodium, infecting over 200 million people and killing over 600,000 per year. Current strategies to control vector-transmitted diseases are increasingly undermined by mosquito and pathogen resistance. Research has turned to additional and novel methods of control, such as altering the microbiota of the vectors. In this method, called paratransgenesis, symbiotic bacteria are genetically modified to affect the mosquito’s phenotype by engineering them to deliver antiplasmodial molecules into the midgut to kill parasites. These molecules must be released by the …
Identification And Characterization Of Genetic Elements That Regulate A C-Di-Gmp Mediated Multicellular Trait In Pseudomonas Fluorescens, Collin Kessler
Identification And Characterization Of Genetic Elements That Regulate A C-Di-Gmp Mediated Multicellular Trait In Pseudomonas Fluorescens, Collin Kessler
Electronic Theses and Dissertations
Microbial communities contain densely packed cells where competition for space and resources are fierce. These communities are generally referred to as biofilms and provide advantages to individual cells against immunological and antimicrobial intervention, dehydration, and predation. High intracellular pools of cyclic diguanylate monophosphate (c-di-GMP) cause cells to aggregate during biofilm formation through the production of diverse extracellular polymers. Genes that encode c-di-GMP catalytic enzymes are commonly mutated during chronic infections where opportunists display enhanced resistance to phagocytosis and antibiotics. Our lab uses an emergent multicellular trait in the model organism Pseudomonas fluorescens Pf0-1 to study the emergence of c-di-GMP mutations …
Prenatal And Pregnancy Loss Evaluation By Noninvasive Screening And Diagnostic Genetic Testing, Abigail Haggerty
Prenatal And Pregnancy Loss Evaluation By Noninvasive Screening And Diagnostic Genetic Testing, Abigail Haggerty
Theses & Dissertations
Noninvasive prenatal testing (NIPT) utilizing cell-free fetal DNA (cffDNA) in the maternal blood is the screening test of choice for physicians today. NIPT depends on the amount of cffDNA in the maternal blood, called the fetal fraction (FF). Researchers are investigating the implications of the FF value in reference to multiple variables in pregnancy outcome, including the risk for aneuploidy and maternal factors that influence the FF.
Diagnostic techniques utilized in patient care include cytogenetics, fluorescence in-situ hybridization (FISH), and microarray. Diagnostic testing is critical to confirm or rule out genetic abnormalities among women with abnormal screening results, …
Ewing Sarcoma Transcriptome: Identification Of Foxn3 As A Novel Target Of Ews-Fli1, Natasha Kreiling
Ewing Sarcoma Transcriptome: Identification Of Foxn3 As A Novel Target Of Ews-Fli1, Natasha Kreiling
Theses & Dissertations
Ewing Sarcoma is an aggressive cancer characterized by a fusion gene formed from a chromosomal translocation between a RNA binding protein and a transcription factor. The most common fusion gene is EWS-FLI1 a potent oncogenic transcription factor responsible for initiating genome instability. EWS-FLI1 promotes tumor growth by dysregulating several genes and pathways. We have identified FOXN3, an important gene in cell cycle control and development, as being suppressed by EWS-FLI1. In the future, a better understanding of FOXN3 and its ability to act as a tumor suppressor in EWS will unravel novel mechanisms of EWS pathogenesis, potential biomarker and drug …