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Washington University School of Medicine

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Functional And Epigenetic Phenotypes Of Humans And Mice With Dnmt3a Overgrowth Syndrome, Amanda M. Smith, Taylor A. Lavalle, Marwan Shinawi, Sai M. Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Sharon E. Heath, Francesca Ferraro, David Y. Chen, Sangeeta Adak, Clay F. Semenkovich, Diana L. Christian, Jenna R. Martin, Harrison W. Gabel, Christopher A. Miller, Timothy J. Ley Jan 2021

Functional And Epigenetic Phenotypes Of Humans And Mice With Dnmt3a Overgrowth Syndrome, Amanda M. Smith, Taylor A. Lavalle, Marwan Shinawi, Sai M. Ramakrishnan, Haley J. Abel, Cheryl A. Hill, Nicole M. Kirkland, Michael P. Rettig, Nichole M. Helton, Sharon E. Heath, Francesca Ferraro, David Y. Chen, Sangeeta Adak, Clay F. Semenkovich, Diana L. Christian, Jenna R. Martin, Harrison W. Gabel, Christopher A. Miller, Timothy J. Ley

Open Access Publications

No abstract provided.


Icam1 Initiates Ctc Cluster Formation And Trans-Endothelial Migration In Lung Metastasis Of Breast Cancer, Rokana Taftaf, Andrew A. Davis, Et Al Jan 2021

Icam1 Initiates Ctc Cluster Formation And Trans-Endothelial Migration In Lung Metastasis Of Breast Cancer, Rokana Taftaf, Andrew A. Davis, Et Al

Open Access Publications

No abstract provided.


Influence Of Mpv17 On Hair-Cell Mitochondrial Homeostasis, Synapse Integrity, And Vulnerability To Damage In The Zebrafish Lateral Line, Melanie Holmgren, Lavinia Sheets Jan 2021

Influence Of Mpv17 On Hair-Cell Mitochondrial Homeostasis, Synapse Integrity, And Vulnerability To Damage In The Zebrafish Lateral Line, Melanie Holmgren, Lavinia Sheets

Open Access Publications

Noise exposure is particularly stressful to hair-cell mitochondria, which must produce enough energy to meet high metabolic demands as well as regulate local intracellular Ca


Development Of A Library Of Laminin-Mimetic Peptide Hydrogels For Control Of Nucleus Pulposus Cell Behaviors, Julie E Speer, Marcos N Barcellona, Michael Y Lu, Zizhen Zha, Liufang Jing, Munish C Gupta, Jacob M Buchowski, Michael P Kelly, Lori A Setton Jan 2021

Development Of A Library Of Laminin-Mimetic Peptide Hydrogels For Control Of Nucleus Pulposus Cell Behaviors, Julie E Speer, Marcos N Barcellona, Michael Y Lu, Zizhen Zha, Liufang Jing, Munish C Gupta, Jacob M Buchowski, Michael P Kelly, Lori A Setton

Open Access Publications

The nucleus pulposus (NP) of the intervertebral disc plays a critical role in distributing mechanical loads to the axial skeleton. Alterations in NP cells and, consequently, NP matrix are some of the earliest changes in the development of disc degeneration. Previous studies demonstrated a role for laminin-presenting biomaterials in promoting a healthy phenotype for human NP cells from degenerated tissue. Here we investigate the use of laminin-mimetic peptides presented individually or in combination on a poly(ethylene) glycol hydrogel as a platform to modulate the behaviors of degenerative human NP cells. Data confirm that NP cells attach to select laminin-mimetic peptides …


Nivolumab Plus Cabozantinib Versus Sunitinib For Advanced Renal-Cell Carcinoma, Toni K. Choueiri, James J. Hsieh, Et Al Jan 2021

Nivolumab Plus Cabozantinib Versus Sunitinib For Advanced Renal-Cell Carcinoma, Toni K. Choueiri, James J. Hsieh, Et Al

Open Access Publications

No abstract provided.


Deletion Of Glut1 In Early Postnatal Cartilage Reprograms Chondrocytes Toward Enhanced Glutamine Oxidation, Cuicui Wang, Jun Ying, Xiangfeng Niu, Xiaofei Li, Gary J. Patti, Jie Shen, Regis J. O'Keefe Jan 2021

Deletion Of Glut1 In Early Postnatal Cartilage Reprograms Chondrocytes Toward Enhanced Glutamine Oxidation, Cuicui Wang, Jun Ying, Xiangfeng Niu, Xiaofei Li, Gary J. Patti, Jie Shen, Regis J. O'Keefe

Open Access Publications

No abstract provided.


Mycobacterium Tuberculosis Rv3160c Is Atetr‑Like Transcriptional Repressor That Regulates Expression Of The Putative Oxygenase Rv3161c, Hasan Tükenmez, Souvik Sarkar, Saber Anoosheh, Anastasiia Kruchanova, Isabel Edström, Gregory A. Harrison, Christina L. Stallings, Fredrik Almqvist, Christer Larsson Jan 2021

Mycobacterium Tuberculosis Rv3160c Is Atetr‑Like Transcriptional Repressor That Regulates Expression Of The Putative Oxygenase Rv3161c, Hasan Tükenmez, Souvik Sarkar, Saber Anoosheh, Anastasiia Kruchanova, Isabel Edström, Gregory A. Harrison, Christina L. Stallings, Fredrik Almqvist, Christer Larsson

Open Access Publications

No abstract provided.


Specifications Of The Variant Curation Guidelines For Itga2b/Itgb3: Clingen Platelet Disorder Variant Curation Panel, Justyne E. Ross, Jorge Di Paola, Et Al. Jan 2021

Specifications Of The Variant Curation Guidelines For Itga2b/Itgb3: Clingen Platelet Disorder Variant Curation Panel, Justyne E. Ross, Jorge Di Paola, Et Al.

Open Access Publications

No abstract provided.


Genome-Wide Meta-Analysis Of Muscle Weakness Identifies 15 Susceptibility Loci In Older Men And Women, Garan Jones, Mary K. Wojczynski, Et Al. Jan 2021

Genome-Wide Meta-Analysis Of Muscle Weakness Identifies 15 Susceptibility Loci In Older Men And Women, Garan Jones, Mary K. Wojczynski, Et Al.

Open Access Publications

No abstract provided.


Sequence- And Structure-Specific Cytosine-5 Mrna Methylation By Nsun6, Tommaso Selmi, Shobbir Hussain, Sabine Dietmann, Matthias Heiß, Kayla Borland, Sophia Flad, Jean-Michel Carter, Rebecca Dennison, Ya-Lin Huang, Stefanie Kellner, Susanne Bornelöv, Michaela Frye Jan 2021

Sequence- And Structure-Specific Cytosine-5 Mrna Methylation By Nsun6, Tommaso Selmi, Shobbir Hussain, Sabine Dietmann, Matthias Heiß, Kayla Borland, Sophia Flad, Jean-Michel Carter, Rebecca Dennison, Ya-Lin Huang, Stefanie Kellner, Susanne Bornelöv, Michaela Frye

Open Access Publications

The highly abundant N6-methyladenosine (m6A) RNA modification affects most aspects of mRNA function, yet the precise function of the rarer 5-methylcytidine (m5C) remains largely unknown. Here, we map m5C in the human transcriptome using methylation-dependent individual-nucleotide resolution cross-linking and immunoprecipitation (miCLIP) combined with RNA bisulfite sequencing. We identify NSUN6 as a methyltransferase with strong substrate specificity towards mRNA. NSUN6 primarily targeted three prime untranslated regions (3'UTR) at the consensus sequence motif CTCCA, located in loops of hairpin structures. Knockout and rescue experiments revealed enhanced mRNA and translation levels when NSUN6-targeted mRNAs were methylated. Ribosome profiling further demonstrated that NSUN6-specific methylation …


Breast Cancer Mortality Hot Spots Among Black Women With De Novo Metastatic Breast Cancer, Yunan Han, Marvin Langston, Lindsay Fuzzell, Saira Khan, Marquita W. Lewis-Thames, Graham A. Colditz, Justin Xavier Moore Jan 2021

Breast Cancer Mortality Hot Spots Among Black Women With De Novo Metastatic Breast Cancer, Yunan Han, Marvin Langston, Lindsay Fuzzell, Saira Khan, Marquita W. Lewis-Thames, Graham A. Colditz, Justin Xavier Moore

Open Access Publications

Background: Black women living in southern states have the highest breast cancer mortality rate in the United States. The prognosis of de novo metastatic breast cancer is poor. Given these mortality rates, we are the first to link nationally representative data on breast cancer mortality hot spots (counties with high breast cancer mortality rates) with cancer mortality data in the United States and investigate the association of geographic breast cancer mortality hot spots with de novo metastatic breast cancer mortality among Black women.

Methods: We identified 7292 Black women diagnosed with de novo metastatic breast cancer in Surveillance, Epidemiology, and …


Complexity In Genetic Cardiomyopathies And New Approaches For Mechanism-Based Precision Medicine, Michael J. Greenberg, Jil C. Tardiff Jan 2021

Complexity In Genetic Cardiomyopathies And New Approaches For Mechanism-Based Precision Medicine, Michael J. Greenberg, Jil C. Tardiff

Open Access Publications

Genetic cardiomyopathies have been studied for decades, and it has become increasingly clear that these progressive diseases are more complex than originally thought. These complexities can be seen both in the molecular etiologies of these disorders and in the clinical phenotypes observed in patients. While these disorders can be caused by mutations in cardiac genes, including ones encoding sarcomeric proteins, the disease presentation varies depending on the patient mutation, where mutations even within the same gene can cause divergent phenotypes. Moreover, it is challenging to connect the mutation-induced molecular insult that drives the disease pathogenesis with the various compensatory and …


Evaluation Of The Neonatal Sequential Organ Failure Assessment And Mortality Risk In Preterm Infants With Late-Onset Infection, Noa Fleiss, Angela N. Lewis, Krista E. Cooksey, Ameena N. Husain, Misty Good, Et Al Jan 2021

Evaluation Of The Neonatal Sequential Organ Failure Assessment And Mortality Risk In Preterm Infants With Late-Onset Infection, Noa Fleiss, Angela N. Lewis, Krista E. Cooksey, Ameena N. Husain, Misty Good, Et Al

Open Access Publications

Importance: Infection in neonates remains a substantial problem. Advances for this population are hindered by the absence of a consensus definition for sepsis. In adults, the Sequential Organ Failure Assessment (SOFA) operationalizes mortality risk with infection and defines sepsis. The generalizability of the neonatal SOFA (nSOFA) for neonatal late-onset infection-related mortality remains unknown.

Objective: To determine the generalizability of the nSOFA for neonatal late-onset infection-related mortality across multiple sites.

Design, Setting, and Participants: A multicenter retrospective cohort study was conducted at 7 academic neonatal intensive care units between January 1, 2010, and December 31, 2019. Participants included 653 preterm ( …


The Catalytic Mechanism Of Vitamin K Epoxide Reduction In Acellular Environment, Guomin Shen, Weidong Cui, Qing Cao, Meng Gao, Hongli Liu, Gaigai Su, Michael L. Gross, Weikai Li Jan 2021

The Catalytic Mechanism Of Vitamin K Epoxide Reduction In Acellular Environment, Guomin Shen, Weidong Cui, Qing Cao, Meng Gao, Hongli Liu, Gaigai Su, Michael L. Gross, Weikai Li

Open Access Publications

No abstract provided.


The Association Of Polygenic Risk For Schizophrenia, Bipolar Disorder, And Depression With Neural Connectivity In Adolescents And Young Adults: Examining Developmental And Sex Differences, J.L. Meyers, E.C. Johnson, A. Agrawal, A. Anokhin, M.H. Plawecki, Et Al. Jan 2021

The Association Of Polygenic Risk For Schizophrenia, Bipolar Disorder, And Depression With Neural Connectivity In Adolescents And Young Adults: Examining Developmental And Sex Differences, J.L. Meyers, E.C. Johnson, A. Agrawal, A. Anokhin, M.H. Plawecki, Et Al.

Open Access Publications

No abstract provided.


Intracranial Delivery Of Aav9 Gene Therapy Partially Prevents Retinal Degeneration And Visual Deficits In Cln6-Batten Disease Mice, Katherine A. White, Hemanth R. Nelvagal, Timothy A. Poole, Bin Lu, Tyler B. Johnson, Samantha Davis, Melissa A. Pratt, Jon Brudvig, Ana B. Assis, Shibi Likhite, Kathrin Meyer, Brian K. Kaspar, Jonathan D. Cooper, Shaomei Wang, Jill M. Weimer Jan 2021

Intracranial Delivery Of Aav9 Gene Therapy Partially Prevents Retinal Degeneration And Visual Deficits In Cln6-Batten Disease Mice, Katherine A. White, Hemanth R. Nelvagal, Timothy A. Poole, Bin Lu, Tyler B. Johnson, Samantha Davis, Melissa A. Pratt, Jon Brudvig, Ana B. Assis, Shibi Likhite, Kathrin Meyer, Brian K. Kaspar, Jonathan D. Cooper, Shaomei Wang, Jill M. Weimer

Open Access Publications

No abstract provided.


Effects Of Dietary Restriction On Neuroinflammation In Neurodegenerative Diseases, Luigi Fontana, Laura Ghezzi, Anne H. Cross, Laura Piccio Jan 2021

Effects Of Dietary Restriction On Neuroinflammation In Neurodegenerative Diseases, Luigi Fontana, Laura Ghezzi, Anne H. Cross, Laura Piccio

Open Access Publications

Recent and accumulating work in experimental animal models and humans shows that diet has a much more pervasive and prominent role than previously thought in modulating neuroinflammatory and neurodegenerative mechanisms leading to some of the most common chronic central nervous system (CNS) diseases. Chronic or intermittent food restriction has profound effects in shaping brain and peripheral metabolism, immunity, and gut microbiome biology. Interactions among calorie intake, meal frequency, diet quality, and the gut microbiome modulate specific metabolic and molecular pathways that regulate cellular, tissue, and organ homeostasis as well as inflammation during normal brain aging and CNS neurodegenerative diseases, including …


Chemoprevention Agents To Reduce Mammographic Breast Density In Premenopausal Women: A Systematic Review Of Clinical Trials, Ana S. Salazar, Malika Rakhmankulova, Laura E. Simon, Adetunji T. Toriola Jan 2021

Chemoprevention Agents To Reduce Mammographic Breast Density In Premenopausal Women: A Systematic Review Of Clinical Trials, Ana S. Salazar, Malika Rakhmankulova, Laura E. Simon, Adetunji T. Toriola

Open Access Publications

Background: Higher mammographic breast density (MBD) is associated with an increased risk of breast cancer when compared with lower MBD, especially in premenopausal women. However, little is known about the effectiveness of chemoprevention agents in reducing MBD in premenopausal women without a history of breast cancer. Findings from this review should provide insight on how to target MBD in breast cancer prevention in premenopausal women with dense breasts.

Methods: We searched 9 electronic databases for clinical trials in English, Spanish, French, or German published until January 2020. Articles evaluating the association of pharmacological agents and MBD were included. Data were …


Ash Isth Nhf Wfh 2021 Guidelines On The Diagnosis Of Von Willebrand Disease, Paula D. James, Jorge Di Paola, Et Al. Jan 2021

Ash Isth Nhf Wfh 2021 Guidelines On The Diagnosis Of Von Willebrand Disease, Paula D. James, Jorge Di Paola, Et Al.

Open Access Publications

No abstract provided.


Impaired Eif5a Function Causes A Mendelian Disorder That Is Partially Rescued In Model Systems By Spermidine, Victor Faundes, Jorge L. Granadillo, Et Al. Jan 2021

Impaired Eif5a Function Causes A Mendelian Disorder That Is Partially Rescued In Model Systems By Spermidine, Victor Faundes, Jorge L. Granadillo, Et Al.

Open Access Publications

No abstract provided.


Diffusion Histology Imaging Differentiates Distinct Pediatric Brain Tumor Histology, Zezhong Ye, Komal Srinivasa, Ashely Meyer, Peng Sun, Joshua Lin, Jeffrey D. Viox, Chunyu Song, Anthony T. Wu, Sheng-Kwei Song, Sonika Dahiya, Joshua B. Rubin Jan 2021

Diffusion Histology Imaging Differentiates Distinct Pediatric Brain Tumor Histology, Zezhong Ye, Komal Srinivasa, Ashely Meyer, Peng Sun, Joshua Lin, Jeffrey D. Viox, Chunyu Song, Anthony T. Wu, Sheng-Kwei Song, Sonika Dahiya, Joshua B. Rubin

Open Access Publications

No abstract provided.


Targeting Primary And Metastatic Uveal Melanoma With A G Protein Inhibitor, Michael D. Onken, Carol M. Makepeace, Kevin M. Kaltenbronn, Joelle Choi, Leonel Hernandez-Aya, Katherine N. Weilbaecher, Kisha D. Piggott, P. Kumar Rao, Carla M. Yuede, Alethia J. Dixon, Patrick Osei-Owusu, John A. Cooper, Kendall J. Blumer Jan 2021

Targeting Primary And Metastatic Uveal Melanoma With A G Protein Inhibitor, Michael D. Onken, Carol M. Makepeace, Kevin M. Kaltenbronn, Joelle Choi, Leonel Hernandez-Aya, Katherine N. Weilbaecher, Kisha D. Piggott, P. Kumar Rao, Carla M. Yuede, Alethia J. Dixon, Patrick Osei-Owusu, John A. Cooper, Kendall J. Blumer

Open Access Publications

No abstract provided.


Glucosamine And Chondroitin Use In Relation To C-Reactive Protein Concentration: Results By Supplement Form, Formulation, And Dose, Elizabeth D. Kantor, Kelli O'Connell, Mengmeng Du, Chao Cao, Xuehong Zhang, Dong Hoon Lee, Yin Cao, Edward L. Giovannucci Jan 2021

Glucosamine And Chondroitin Use In Relation To C-Reactive Protein Concentration: Results By Supplement Form, Formulation, And Dose, Elizabeth D. Kantor, Kelli O'Connell, Mengmeng Du, Chao Cao, Xuehong Zhang, Dong Hoon Lee, Yin Cao, Edward L. Giovannucci

Open Access Publications

No abstract provided.


Long Runs Of Homozygosity Are Associated With Alzheimer’S Disease, Sonia Moreno-Grau, Maria Victoria Fernández, Fabiana Farias, John P. Budde, Carlos Cruchaga, O. Maroñas, Et Al. Jan 2021

Long Runs Of Homozygosity Are Associated With Alzheimer’S Disease, Sonia Moreno-Grau, Maria Victoria Fernández, Fabiana Farias, John P. Budde, Carlos Cruchaga, O. Maroñas, Et Al.

Open Access Publications

No abstract provided.


Single Cell Transcriptomic Analysis Of Human Pluripotent Stem Cell Chondrogenesis, Chia-Lung Wu, Amanda Dicks, Nancy Steward, Ruhang Tang, Dakota B. Katz, Yun-Rak Choi, Farshid Guilak Jan 2021

Single Cell Transcriptomic Analysis Of Human Pluripotent Stem Cell Chondrogenesis, Chia-Lung Wu, Amanda Dicks, Nancy Steward, Ruhang Tang, Dakota B. Katz, Yun-Rak Choi, Farshid Guilak

Open Access Publications

No abstract provided.


A Casz1–Nurd Complex Regulates Temporal Identity Transitions In Neural Progenitors, Pierre Mattar, Christine Jolicoeur, Thanh Dang, Sujay Shah, Brian S. Clark, Michel Cayouette Jan 2021

A Casz1–Nurd Complex Regulates Temporal Identity Transitions In Neural Progenitors, Pierre Mattar, Christine Jolicoeur, Thanh Dang, Sujay Shah, Brian S. Clark, Michel Cayouette

Open Access Publications

No abstract provided.


Anti-Inflammatory Dopamine- And Serotonin-Based Endocannabinoid Epoxides Reciprocally Regulate Cannabinoid Receptors And The Trpv1 Channel, William R. Arnold, Lauren N. Carnevale, Zili Xie, Javier L. Baylon, Emad Tajkhorshid, Hongzhen Hu, Aditi Das Jan 2021

Anti-Inflammatory Dopamine- And Serotonin-Based Endocannabinoid Epoxides Reciprocally Regulate Cannabinoid Receptors And The Trpv1 Channel, William R. Arnold, Lauren N. Carnevale, Zili Xie, Javier L. Baylon, Emad Tajkhorshid, Hongzhen Hu, Aditi Das

Open Access Publications

No abstract provided.


Choroid Plexus Nkcc1 Mediates Cerebrospinal Fluid Clearance During Mouse Early Postnatal Development, Huixin Xu, Yong Zhang, Michael J. Holtzman, Et Al. Jan 2021

Choroid Plexus Nkcc1 Mediates Cerebrospinal Fluid Clearance During Mouse Early Postnatal Development, Huixin Xu, Yong Zhang, Michael J. Holtzman, Et Al.

Open Access Publications

No abstract provided.


Redox-Responsive Hyaluronic Acid-Based Nanogels For The Topical Delivery Of The Visual Chromophore To Retinal Photoreceptors, Amine M. Laradji, Alexander V. Kolesnikov, Bedia B. Karakoçak, Vladimir J. Kefalov, Nathan Ravi Jan 2021

Redox-Responsive Hyaluronic Acid-Based Nanogels For The Topical Delivery Of The Visual Chromophore To Retinal Photoreceptors, Amine M. Laradji, Alexander V. Kolesnikov, Bedia B. Karakoçak, Vladimir J. Kefalov, Nathan Ravi

Open Access Publications

No abstract provided.


A Priori Activation Of Apoptosis Pathways Of Tumor (Aaapt) Technology: Development Of Targeted Apoptosis Initiators For Cancer Treatment, Raghu S. Pandurangi, Marco Tomasetti, Sekar T. Verapazham, Ramasamy Paulmurugan, Cynthia Ma, Sandeep Rajput, Manjushree Anjanappa, Harikrishna Nakshatri Jan 2021

A Priori Activation Of Apoptosis Pathways Of Tumor (Aaapt) Technology: Development Of Targeted Apoptosis Initiators For Cancer Treatment, Raghu S. Pandurangi, Marco Tomasetti, Sekar T. Verapazham, Ramasamy Paulmurugan, Cynthia Ma, Sandeep Rajput, Manjushree Anjanappa, Harikrishna Nakshatri

Open Access Publications

Cancer cells develop tactics to circumvent the interventions by desensitizing themselves to interventions. Amongst many, the principle routes of desensitization include a) activation of survival pathways (e.g. NF-kB, PARP) and b) downregulation of cell death pathways (e.g. CD95/CD95L). As a result, it requires high therapeutic dose to achieve tumor regression which, in turn damages normal cells through the collateral effects. Methods are needed to sensitize the low and non-responsive resistant tumor cells including cancer stem cells (CSCs) in order to evoke a better response from the current treatments. Current treatments including chemotherapy can induce cell death only in bulk cancer …