Open Access. Powered by Scholars. Published by Universities.®
- Institution
-
- The Texas Medical Center Library (17388)
- General Organization of Teaching Hospitals and Institutes (GOTHI) (526)
- Thomas Jefferson University (510)
- University of Kentucky (457)
- University of Nebraska - Lincoln (346)
-
- Lehigh Valley Health Network (263)
- LSU Health New Orleans (240)
- Roseman University of Health Sciences (186)
- Dartmouth College (180)
- University of Nebraska Medical Center (171)
- Children's Mercy Kansas City (148)
- Marshall University (145)
- JSS Academy of Higher Education and Research (139)
- Chapman University (131)
- Saudi Medical Journal (118)
- Himmelfarb Health Sciences Library, The George Washington University (98)
- Old Dominion University (85)
- Wayne State University (80)
- Valparaiso University (68)
- Aga Khan University (66)
- Zucker School of Medicine at Hofstra/Northwell (66)
- University of South Carolina (64)
- University of Texas Rio Grande Valley (59)
- Rowan University (58)
- City University of New York (CUNY) (55)
- Virginia Commonwealth University (51)
- HCA Healthcare (48)
- Providence (45)
- Ohio Northern University (44)
- University of Louisville (41)
- Keyword
-
- Humans (10782)
- Female (4472)
- Male (3840)
- Animals (3615)
- Mice (2552)
-
- Adult (2052)
- Middle Aged (2018)
- Aged (1727)
- Child (1300)
- Retrospective Studies (1019)
- Tumor (896)
- Neoplasms (878)
- Adolescent (871)
- Mutation (762)
- Cell Line (704)
- Biomarkers (703)
- Treatment Outcome (686)
- Carcinoma (660)
- Cell Line, Tumor (657)
- United States (655)
- Risk Factors (602)
- COVID-19 (598)
- Infant (595)
- Young Adult (589)
- Child, Preschool (556)
- Immunotherapy (548)
- Receptors (545)
- Animal (535)
- Inbred C57BL (532)
- Preschool (531)
- Publication Year
- Publication
-
- Faculty, Staff and Students Publications (8403)
- Faculty, Staff and Student Publications (8062)
- Journal of Medicine in Scientific Research (526)
- Children’s Nutrition Research Center Staff Publications (414)
- Nebraska Center for Virology: Faculty Publications (263)
-
- Duncan NRI Faculty and Staff Publications (259)
- Department of Medicine (232)
- Annual Research Symposium (185)
- School of Medicine Faculty Publications (178)
- Dartmouth Scholarship (177)
- Digital Journal of Clinical Medicine (139)
- Journal Articles: Pathology and Microbiology (123)
- Saudi Medical Journal (118)
- Manuscripts, Articles, Book Chapters and Other Papers (108)
- Sanders-Brown Center on Aging Faculty Publications (103)
- Dissertations and Theses (Open Access) (99)
- Department of Pathology, Anatomy, and Cell Biology Faculty Papers (93)
- Saha Cardiovascular Research Center Faculty Publications (93)
- Center on Aging Staff Publications (78)
- Pharmacy Faculty Articles and Research (74)
- Journal of Mind and Medical Sciences (68)
- Journal Articles (67)
- Microbiology, Immunology, and Tropical Medicine Faculty Publications (64)
- Clinical Practice in Athletic Training (58)
- School of Graduate Studies Faculty Publications (49)
- Biochemistry and Microbiology (48)
- Center for Medical Ethics and Health Policy Staff Publications (47)
- Food for Health: Publications (47)
- Markey Cancer Center Faculty Publications (46)
- Pharmacy and Wellness Review (43)
- Publication Type
Articles 12331 - 12360 of 23134
Full-Text Articles in Medical Specialties
Epigenomic Dissection Of Alzheimer’S Disease Pinpoints Causal Variants And Reveals Epigenome Erosion, Yongjin P Park, Kyriaki Galani, Matheus B Victor, Na Sun, Lei Hou, Li-Lun Ho, Julio Mantero, Aine Ni Scannail, Vishnu Dileep, Weixiu Dong, Hansruedi Mathys, David A Bennett, Li-Huei Tsai, Manolis Kellis
Epigenomic Dissection Of Alzheimer’S Disease Pinpoints Causal Variants And Reveals Epigenome Erosion, Yongjin P Park, Kyriaki Galani, Matheus B Victor, Na Sun, Lei Hou, Li-Lun Ho, Julio Mantero, Aine Ni Scannail, Vishnu Dileep, Weixiu Dong, Hansruedi Mathys, David A Bennett, Li-Huei Tsai, Manolis Kellis
Faculty, Staff and Students Publications
Recent work has identified dozens of non-coding loci for Alzheimer's disease (AD) risk, but their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here, we profile epigenomic and transcriptomic landscapes of 850,000 nuclei from prefrontal cortexes of 92 individuals with and without AD to build a map of the brain regulome, including epigenomic profiles, transcriptional regulators, co-accessibility modules, and peak-to-gene links in a cell-type-specific manner. We develop methods for multimodal integration and detecting regulatory modules using peak-to-gene linking. We show AD risk loci are enriched in microglial enhancers and for specific TFs including SPI1, ELF2, and RUNX1. We detect …
Pro- And Anti-Inflammatory Biomarkers As Predictors Of Response To Valproate In Patients With Comorbid Alcohol Use And Bipolar Disorder-Preliminary Findings, Ilya Blokhin, Lisa Harlow, Eleonore Beurel, Feng Miao, Dana Ascherman, Claes Wahlestedt, Ihsan Salloum
Pro- And Anti-Inflammatory Biomarkers As Predictors Of Response To Valproate In Patients With Comorbid Alcohol Use And Bipolar Disorder-Preliminary Findings, Ilya Blokhin, Lisa Harlow, Eleonore Beurel, Feng Miao, Dana Ascherman, Claes Wahlestedt, Ihsan Salloum
Research Symposium
Objective/Hypothesis: Bipolar disorder (BD) has the highest association with alcohol and other substance use disorders compared to other major psychiatric disorders. This patient population is particularly challenging to treat. We have previously shown that some patients with co-occurring alcohol use and bipolar disorders respond to the GABAergic agonist valproate (VPA), which is known to modulates the dopaminergic system, and also as an epigenetic modifier. Predictors of therapeutic response to VPA in patients with AUD/BD are not known, and the subgroup which would benefit from VPA is still to be identified. Recent evidence suggests that AUD promotes a pro-inflammatory state while …
Can Alternative Medical Methods Evoke Neuro-Functional Somatosensory Responses? A Case Study Suggesting Functional Improvement, Alhasn Otaif, Mashan E. Alshammari, Christine G. Gerin
Can Alternative Medical Methods Evoke Neuro-Functional Somatosensory Responses? A Case Study Suggesting Functional Improvement, Alhasn Otaif, Mashan E. Alshammari, Christine G. Gerin
Research Symposium
Somatosensory pathways act as the avenue in transferring information concerning the body and its interaction with the external environment to the brain. We aim to demonstrate that through studying somatosensory, motor cortical and subcortical networks, we can explain functional recovery after stimulations applied as an alternative medical treatment. Those stimulations might have evidenced neural pathways and networks important in recovery of function. Materials and methods: The de-identified medical reports of nine patients with initial presentations of cerebral trauma or stroke inducing paralysis were studied.These included the alternative treatments they received and other available materials such as videos and photographs. Patients …
Adjunctive Diagnostic Studies Completed Following Detection Of Candidemia In Children: Secondary Analysis Of Observed Practice From A Multicenter Cohort Study Conducted By The Pediatric Fungal Network, Rachael K Ross, Inci Yildirim, Theoklis E Zaoutis, Debra L Palazzi, Surabhi B Vora, Elio Castagnola, Martha Avilés-Robles, Lara Danziger-Isakov, Alison C Tribble, Tanvi S Sharma, Antonio C Arrieta, Gabriela Maron, David M Berman, Dwight E Yin, Lillian Sung, Michael Green, Emmanuel Roilides, Kiran Belani, José Romero, Pere Soler-Palacin, Eduardo López-Medina, Dawn Nolt, Ibrahim Zaid Bin Hussain, William J Muller, Sarmistha B Hauger, Natasha Halasa, Daniel Dulek, Alice Pong, Blanca E Gonzalez, Mark J Abzug, Fabianne Carlesse, Anna R Huppler, Sujatha Rajan, Catherine Aftandilian, Monica I Ardura, Arunaloke Chakrabarti, Benjamin Hanisch, Christine M Salvatore, Lena Klingspor, Elizabeth D Knackstedt, Irja Lutsar, Maria E Santolaya, Sydney Shuster, Sarah K Johnson, William J Steinbach, Brian T Fisher
Adjunctive Diagnostic Studies Completed Following Detection Of Candidemia In Children: Secondary Analysis Of Observed Practice From A Multicenter Cohort Study Conducted By The Pediatric Fungal Network, Rachael K Ross, Inci Yildirim, Theoklis E Zaoutis, Debra L Palazzi, Surabhi B Vora, Elio Castagnola, Martha Avilés-Robles, Lara Danziger-Isakov, Alison C Tribble, Tanvi S Sharma, Antonio C Arrieta, Gabriela Maron, David M Berman, Dwight E Yin, Lillian Sung, Michael Green, Emmanuel Roilides, Kiran Belani, José Romero, Pere Soler-Palacin, Eduardo López-Medina, Dawn Nolt, Ibrahim Zaid Bin Hussain, William J Muller, Sarmistha B Hauger, Natasha Halasa, Daniel Dulek, Alice Pong, Blanca E Gonzalez, Mark J Abzug, Fabianne Carlesse, Anna R Huppler, Sujatha Rajan, Catherine Aftandilian, Monica I Ardura, Arunaloke Chakrabarti, Benjamin Hanisch, Christine M Salvatore, Lena Klingspor, Elizabeth D Knackstedt, Irja Lutsar, Maria E Santolaya, Sydney Shuster, Sarah K Johnson, William J Steinbach, Brian T Fisher
Faculty, Staff and Students Publications
BACKGROUND: Adjunctive diagnostic studies (aDS) are recommended to identify occult dissemination in patients with candidemia. Patterns of evaluation with aDS across pediatric settings are unknown.
METHODS: Candidemia episodes were included in a secondary analysis of a multicenter comparative effectiveness study that prospectively enrolled participants age 120 days to 17 years with invasive candidiasis (predominantly candidemia) from 2014 to 2017. Ophthalmologic examination (OE), abdominal imaging (AbdImg), echocardiogram, neuroimaging, and lumbar puncture (LP) were performed per clinician discretion. Adjunctive diagnostic studies performance and positive results were determined per episode, within 30 days from candidemia onset. Associations of aDS performance with episode characteristics …
Author Correction: Histone H2a Lys130 Acetylation Epigenetically Regulates Androgen Production In Prostate Cancer, Cody Weimholt, Audrey Wilson, Jingqin Luo, Tiandao Li, John Koomen, Bin Fang, Nagireddy Putluri, Arun Sreekumar, Felix Y Feng, Kiran Mahajan, Nupam P Mahajan
Author Correction: Histone H2a Lys130 Acetylation Epigenetically Regulates Androgen Production In Prostate Cancer, Cody Weimholt, Audrey Wilson, Jingqin Luo, Tiandao Li, John Koomen, Bin Fang, Nagireddy Putluri, Arun Sreekumar, Felix Y Feng, Kiran Mahajan, Nupam P Mahajan
Faculty, Staff and Students Publications
No abstract provided.
Differential Effects Of Pancreatic Cancer-Derived Extracellular Vesicles Driving A Suppressive Environment, Anurag Purushothaman, Jacqueline Oliva-Ramírez, Warapen Treekitkarnmongkol, Deivendran Sankaran, Mark W Hurd, Anirban Maitra, Subrata Sen
Differential Effects Of Pancreatic Cancer-Derived Extracellular Vesicles Driving A Suppressive Environment, Anurag Purushothaman, Jacqueline Oliva-Ramírez, Warapen Treekitkarnmongkol, Deivendran Sankaran, Mark W Hurd, Anirban Maitra, Subrata Sen
Faculty, Staff and Student Publications
Pancreatic ductal adenocarcinoma (PDAC) cells display extensive crosstalk with their surrounding environment to regulate tumor growth, immune evasion, and metastasis. Recent advances have attributed many of these interactions to intercellular communication mediated by small extracellular vesicles (sEVs), involving cancer-associated fibroblasts (CAF). To explore the impact of sEVs on monocyte lineage transition as well as the expression of checkpoint receptors and activation markers, peripheral blood monocytes from healthy subjects were exposed to PDAC-derived sEVs. Additionally, to analyze the role of sEV-associated HA in immune regulation and tissue-resident fibroblasts, monocytes and pancreatic stellate cells were cultured in the presence of PDAC sEVs …
Author Correction: Synthetic Oct-A Blood Vessel Maps Using Fundus Images And Generative Adversarial Networks, Ivan Coronado, Samiksha Pachade, Emanuele Trucco, Rania Abdelkhaleq, Juntao Yan, Amanda Jagolino-Cole, Roomasa Channa, Sunil A Sheth, Luca Giancardo
Author Correction: Synthetic Oct-A Blood Vessel Maps Using Fundus Images And Generative Adversarial Networks, Ivan Coronado, Samiksha Pachade, Emanuele Trucco, Rania Abdelkhaleq, Juntao Yan, Amanda Jagolino-Cole, Roomasa Channa, Sunil A Sheth, Luca Giancardo
Faculty, Staff and Student Publications
No abstract provided.
Antibodies To Coagulase Of Staphylococcus Aureus Crossreact To Efb And Reveal Different Binding Of Shared Fibrinogen Binding Repeats, Federico Bertoglio, Ya-Ping Ko, Sheila Thomas, Liliana Giordano, Francesca Romana Scommegna, Saskia Polten, Srishtee Arora, Michael Hust, Magnus Höök, Livia Visai
Antibodies To Coagulase Of Staphylococcus Aureus Crossreact To Efb And Reveal Different Binding Of Shared Fibrinogen Binding Repeats, Federico Bertoglio, Ya-Ping Ko, Sheila Thomas, Liliana Giordano, Francesca Romana Scommegna, Saskia Polten, Srishtee Arora, Michael Hust, Magnus Höök, Livia Visai
Faculty, Staff and Student Publications
Staphylococcus aureus pathology is caused by a plethora of virulence factors able to combat multiple host defence mechanisms. Fibrinogen (Fg), a critical component in the host coagulation cascade, plays an important role in the pathogenesis of this bacterium, as it is the target of numerous staphylococcal virulence proteins. Amongst its secreted virulence factors, coagulase (Coa) and Extracellular fibrinogen-binding protein (Efb) share common Fg binding motives and have been described to form a Fg shield around staphylococcal cells, thereby allowing efficient bacterial spreading, phagocytosis escape and evasion of host immune system responses. Targeting these proteins with monoclonal antibodies thus represents a …
Inhibition Of Trap1 Accelerates The Dna Damage Response, Activation Of The Heat Shock Response And Metabolic Reprogramming In Colon Cancer Cells, Sheng Pan, Ru Chen
Inhibition Of Trap1 Accelerates The Dna Damage Response, Activation Of The Heat Shock Response And Metabolic Reprogramming In Colon Cancer Cells, Sheng Pan, Ru Chen
Faculty, Staff and Students Publications
BACKGROUND: Colorectal cancer (CRC) is one of the major causes of cancer-related mortality worldwide. The tumor microenvironment plays a significant role in CRC development, progression and metastasis. Oxidative stress in the colon is a major etiological factor impacting tumor progression. Tumor necrosis factor receptor-associated protein 1 (TRAP1) is a mitochondrial member of the heat shock protein 90 (HSP90) family that is involved in modulating apoptosis in colon cancer cells under oxidative stress. We undertook this study to provide mechanistic insight into the role of TRAP1 under oxidative stress in colon cells.
METHODS: We first assessed the The Cancer Genome Atlas …
Setd2 Safeguards The Genome Against Isochromosome Formation, Rashmi Dahiya, Tiffany Guess, Abid Khan, Logan Vlach, Stephen R Norris, Courtney A Lovejoy, Ruhee Dere, Brian D Strahl, Ryoma Ohi, Peter Ly, Cheryl Lyn Walker, W Kimryn Rathmell
Setd2 Safeguards The Genome Against Isochromosome Formation, Rashmi Dahiya, Tiffany Guess, Abid Khan, Logan Vlach, Stephen R Norris, Courtney A Lovejoy, Ruhee Dere, Brian D Strahl, Ryoma Ohi, Peter Ly, Cheryl Lyn Walker, W Kimryn Rathmell
Faculty, Staff and Students Publications
Isochromosomes are mirror-imaged chromosomes with simultaneous duplication and deletion of genetic material which may contain two centromeres to create isodicentric chromosomes. Although isochromosomes commonly occur in cancer and developmental disorders and promote genome instability, mechanisms that prevent isochromosomes are not well understood. We show here that the tumor suppressor and methyltransferase SETD2 is essential to prevent these errors. Using cellular and cytogenetic approaches, we demonstrate that loss of SETD2 or its epigenetic mark, histone H3 lysine 36 trimethylation (H3K36me3), results in the formation of isochromosomes as well as isodicentric and acentric chromosomes. These defects arise during DNA replication and are …
In Vivo Crispr/Cas9 Screening Identifies Pbrm1 As A Regulator Of Myeloid Leukemia Development In Mice, Qian Zhu, Davide Seruggia, Yuko Fujiwara, Christopher R Vakoc, Stuart H Orkin
In Vivo Crispr/Cas9 Screening Identifies Pbrm1 As A Regulator Of Myeloid Leukemia Development In Mice, Qian Zhu, Davide Seruggia, Yuko Fujiwara, Christopher R Vakoc, Stuart H Orkin
Faculty, Staff and Students Publications
CRISPR/Cas9 screening approaches are powerful tool for identifying in vivo cancer dependencies. Hematopoietic malignancies are genetically complex disorders in which the sequential acquisition of somatic mutations generates clonal diversity. Over time, additional cooperating mutations may drive disease progression. Using an in vivo pooled gene editing screen of epigenetic factors in primary murine hematopoietic stem and progenitor cells (HSPCs), we sought to uncover unrecognized genes that contribute to leukemia progression. We, first, modeled myeloid leukemia in mice by functionally abrogating both Tet2 and Tet3 in HSPCs, followed by transplantation. We, then, performed pooled CRISPR/Cas9 editing of genes encoding epigenetic factors and …
A Peptide-Binding Domain Shared With An Antarctic Bacterium Facilitates, Cameron J Lloyd, Shuaiqi Guo, Brett Kinrade, Hossein Zahiri, Robert Eves, Fitnat Yildiz, Peter L Davies, Karl E Klose
A Peptide-Binding Domain Shared With An Antarctic Bacterium Facilitates, Cameron J Lloyd, Shuaiqi Guo, Brett Kinrade, Hossein Zahiri, Robert Eves, Fitnat Yildiz, Peter L Davies, Karl E Klose
Faculty, Staff and Student Publications
No abstract provided.
Axl-Initiated Paracrine Activation Of Pstat3 Enhances Mesenchymal And Vasculogenic Supportive Features Of Tumor-Associated Macrophages, Chia-Nung Hung, Meizhen Chen, Daniel T Dearmond, Cheryl H-L Chiu, Catherine A Limboy, Meena Kusi, Li-Ling Lin, Zhao Zhang, Chiou-Miin Wang, Chun-Liang Chen, Kohzoh Mitsuya, Pawel A Osmulski, Maria E Gaczynska, Nameer B Kirma, Ratna K Vadlamudi, Don L Gibbons, Steve Warner, Andrew J Brenner, Daruka Mahadevan, Joel E Michalek, Tim H-M Huang, Josephine A Taverna
Axl-Initiated Paracrine Activation Of Pstat3 Enhances Mesenchymal And Vasculogenic Supportive Features Of Tumor-Associated Macrophages, Chia-Nung Hung, Meizhen Chen, Daniel T Dearmond, Cheryl H-L Chiu, Catherine A Limboy, Meena Kusi, Li-Ling Lin, Zhao Zhang, Chiou-Miin Wang, Chun-Liang Chen, Kohzoh Mitsuya, Pawel A Osmulski, Maria E Gaczynska, Nameer B Kirma, Ratna K Vadlamudi, Don L Gibbons, Steve Warner, Andrew J Brenner, Daruka Mahadevan, Joel E Michalek, Tim H-M Huang, Josephine A Taverna
Faculty, Staff and Student Publications
Tumor-associated macrophages (TAMs) are integral to the development of complex tumor microenvironments (TMEs) and can execute disparate cellular programs in response to extracellular cues. However, upstream signaling processes underpinning this phenotypic plasticity remain to be elucidated. Here, we report that concordant AXL-STAT3 signaling in TAMs is triggered by lung cancer cells or cancer-associated fibroblasts in the cytokine milieu. This paracrine action drives TAM differentiation toward a tumor-promoting "M2-like" phenotype with upregulation of CD163 and putative mesenchymal markers, contributing to TAM heterogeneity and diverse cellular functions. One of the upregulated markers, CD44, mediated by AXL-IL-11-pSTAT3 signaling cascade, enhances macrophage ability to …
Pet Imaging Of Microglia Using Pbr28suv Determines Therapeutic Efficacy Of Autologous Bone Marrow Mononuclear Cells Therapy In Traumatic Brain Injury, Henry W Caplan, Fanni Cardenas, Franciska Gudenkauf, Karen Uray, Amit K Srivastava, Alan R Prossin, Charles S Cox
Pet Imaging Of Microglia Using Pbr28suv Determines Therapeutic Efficacy Of Autologous Bone Marrow Mononuclear Cells Therapy In Traumatic Brain Injury, Henry W Caplan, Fanni Cardenas, Franciska Gudenkauf, Karen Uray, Amit K Srivastava, Alan R Prossin, Charles S Cox
Faculty, Staff and Student Publications
Traumatic brain injury (TBI) results in activated microglia. Activated microglia can be measured in vivo by using positron emission topography (PET) ligand peripheral benzodiazepine receptor standardized uptake values (PBR28suv). Cell based therapies have utilized autologous bone marrow mononuclear cells (BMMNCs) to attenuate activated microglia after TBI. This study aims to utilize in vivo PBR28suv to assess the efficacy of BMMNCs therapy after TBI. Seventy-two hours after CCI injury, BMMNCs were harvested from the tibia and injected via tail-vein at 74 h after injury at a concentration of 2 million cells per kilogram of body weight. There were three groups of …
Oral Dosages Of The Nsaid Aspirin Decreased The Growth Rate Of Species Found In The Human Gut Microbiome Including Akkermansia Muciniphila, Bacteroides Fragilis, Clostridium Sordellii, And Clostridium Difficile, Wyatt H. Greenbaum, Garrett J. Greenbaum, Anna Spiezio
Oral Dosages Of The Nsaid Aspirin Decreased The Growth Rate Of Species Found In The Human Gut Microbiome Including Akkermansia Muciniphila, Bacteroides Fragilis, Clostridium Sordellii, And Clostridium Difficile, Wyatt H. Greenbaum, Garrett J. Greenbaum, Anna Spiezio
PANDION: The Osprey Journal of Research and Ideas
Over past few decades, new insight has been revealed in the scientific community about the importance of the human gut microbiome relating to general health. It is known that imbalances in the species that reside in the human gut can cause organism-wide problems in humans. When prescribing or injecting oral medications, the thought of the downstream effects on the gut microbiome are not always considered. By exposing known healthy members of the gut; Akkermansia muciniphila, Bacteroides fragilis, Clostridium sordellii, and Clostridium difficile to the Aspirin, this study attempted to provide insight into the effects of the drug on bacterial growth. …
Dopamine Signaling From Ganglion Cells Directs Layer-Specific Angiogenesis In The Retina, Mohamed Tawfik, Shane P D'Souza, Morven A Cameron, Richard A Lang, Melanie A Samuel
Dopamine Signaling From Ganglion Cells Directs Layer-Specific Angiogenesis In The Retina, Mohamed Tawfik, Shane P D'Souza, Morven A Cameron, Richard A Lang, Melanie A Samuel
Faculty, Staff and Students Publications
During central nervous system (CNS) development, a precisely patterned vasculature emerges to support CNS function. How neurons control angiogenesis is not well understood. Here, we show that the neuromodulator dopamine restricts vascular development in the retina via temporally limited production by an unexpected neuron subset. Our genetic and pharmacological experiments demonstrate that elevating dopamine levels inhibits tip-cell sprouting and vessel growth, whereas reducing dopamine production by all retina neurons increases growth. Dopamine production by canonical dopaminergic amacrine interneurons is dispensable for these events. Instead, we found that temporally restricted dopamine production by retinal ganglion cells (RGCs) modulates vascular development. RGCs …
Novel Genetic And Phenotypic Expansion In Gosr2-Related Progressive Myoclonus Epilepsy, Rohini Coorg, Tom J De Koning, Kha M Nguyen, Calvin K Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
Novel Genetic And Phenotypic Expansion In Gosr2-Related Progressive Myoclonus Epilepsy, Rohini Coorg, Tom J De Koning, Kha M Nguyen, Calvin K Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
Faculty, Staff and Students Publications
Biallelic variants in the Golgi SNAP receptor complex member 2 gene (GOSR2) have been reported in progressive myoclonus epilepsy with neurodegeneration. Typical clinical features include ataxia and areflexia during early childhood, followed by seizures, scoliosis, dysarthria, and myoclonus. Here, we report two novel patients from unrelated families with a GOSR2-related disorder and novel genetic and clinical findings. The first patient, a male compound heterozygous for the GOSR2 splice site variant c.336+1G>A and the novel c.364G>A,p.Glu122Lys missense variant showed global developmental delay and seizures at the age of 2 years, followed by myoclonus at the age …
Blockade Of Interferon Signaling Decreases Gut Barrier Integrity And Promotes Severe West Nile Virus Disease, Adrian Gervais, Summer Rucknagel, Kristy O Murray, Jean-Laurent Casanova, Michael S Diamond
Blockade Of Interferon Signaling Decreases Gut Barrier Integrity And Promotes Severe West Nile Virus Disease, Adrian Gervais, Summer Rucknagel, Kristy O Murray, Jean-Laurent Casanova, Michael S Diamond
Faculty, Staff and Students Publications
The determinants of severe disease caused by West Nile virus (WNV) and why only ~1% of individuals progress to encephalitis remain poorly understood. Here, we use human and mouse enteroids, and a mouse model of pathogenesis, to explore the capacity of WNV to directly infect gastrointestinal (GI) tract cells and contribute to disease severity. At baseline, WNV poorly infects human and mouse enteroid cultures and enterocytes in mice. However, when STAT1 or type I interferon (IFN) responses are absent, GI tract cells become infected, and this is associated with augmented GI tract and blood-brain barrier (BBB) permeability, accumulation of gut-derived …
Transcriptomic Analysis Of Stem Cells From Chorionic Villi Uncovers The Impact Of Chromosomes 2, 6 And 22 In The Clinical Manifestations Of Down Syndrome, Marcos Quintela, Alessandra Preziuso, Richard H Finnell, Robert Steven Conlan, Lewis W Francis, Bruna Corradetti
Transcriptomic Analysis Of Stem Cells From Chorionic Villi Uncovers The Impact Of Chromosomes 2, 6 And 22 In The Clinical Manifestations Of Down Syndrome, Marcos Quintela, Alessandra Preziuso, Richard H Finnell, Robert Steven Conlan, Lewis W Francis, Bruna Corradetti
Faculty, Staff and Students Publications
BACKGROUND: Down syndrome (DS) clinical multisystem condition is generally considered the result of a genetic imbalance generated by the extra copy of chromosome 21. Recent discoveries, however, demonstrate that the molecular mechanisms activated in DS compared to euploid individuals are more complex than previously thought. Here, we utilize mesenchymal stem cells from chorionic villi (CV) to uncover the role of comprehensive functional genomics-based understanding of DS complexity.
METHODS: Next-generation sequencing coupled with bioinformatic analysis was performed on CV obtained from women carrying fetuses with DS (DS-CV) to reveal specific genome-wide transcriptional changes compared to their euploid counterparts. Functional assays were …
Comparative Genomics Analysis Of Three Conserved Plasmid Families In The Western Hemisphere Soft Tick-Borne Relapsing Fever Borreliae Provides Insight Into Variation In Genome Structure And Antigenic Variation Systems
Faculty, Staff and Students Publications
Borrelia spirochetes, causative agents of Lyme disease and relapsing fever (RF), have uniquely complex genomes, consisting of a linear chromosome and both circular and linear plasmids. The plasmids harbor genes important for the vector-host life cycle of these tick-borne bacteria. The role of plasmids from Lyme disease causing spirochetes is more refined compared to RF Borrelia because of limited plasmid-resolved genome assemblies for the latter. We recently addressed this limitation and found that three linear plasmid families (F6, F27, and F28) were syntenic across all the RF Borrelia species that we examined. Given this conservation, we further investigated the three …
Impaired Bone Morphogenetic Protein Signaling Pathways Disrupt Decidualization In Endometriosis, Ting Geng, Dominique I Cope, Timothy N Dunn, Joie Guner, Linda Alpuing Radilla, Xiaoming Guan, Diana Monsivais
Impaired Bone Morphogenetic Protein Signaling Pathways Disrupt Decidualization In Endometriosis, Ting Geng, Dominique I Cope, Timothy N Dunn, Joie Guner, Linda Alpuing Radilla, Xiaoming Guan, Diana Monsivais
Faculty, Staff and Students Publications
It is hypothesized that impaired endometrial decidualization contributes to decreased fertility in individuals with endometriosis. To identify the molecular defects that underpin defective decidualization in endometriosis, we subjected endometrial stromal cells from individuals with or without endometriosis to time course in vitro decidualization with estradiol, progesterone, and 8-bromo-cyclic-AMP (EPC) for 2, 4, 6, or 8 days. Transcriptomic profiling identified differences in key pathways between the two groups, including defective bone morphogenetic protein (BMP)/SMAD4 signaling (ID2, ID3, FST), oxidate stress response (NFE2L2, ALOX15, SLC40A1), and retinoic acid signaling pathways (RARRES, RARB, ALDH1B1). Genome-wide binding analyses …
Interpreting Randomized Controlled Trials, Pavlos Msaouel, Juhee Lee, Peter F Thall
Interpreting Randomized Controlled Trials, Pavlos Msaouel, Juhee Lee, Peter F Thall
Faculty, Staff and Student Publications
This article describes rationales and limitations for making inferences based on data from randomized controlled trials (RCTs). We argue that obtaining a representative random sample from a patient population is impossible for a clinical trial because patients are accrued sequentially over time and thus comprise a convenience sample, subject only to protocol entry criteria. Consequently, the trial's sample is unlikely to represent a definable patient population. We use causal diagrams to illustrate the difference between random allocation of interventions within a clinical trial sample and true simple or stratified random sampling, as executed in surveys. We argue that group-specific statistics, …
Social Vulnerability Of The People Exposed To Wildfires In Us West Coast States, Arash Modaresi Rad, John T Abatzoglou, Erica Fleishman, Miranda H Mockrin, Volker C Radeloff, Megan Cattau, Philip Higuera, Nicholas J Nauslar, Mojtaba Sadegh
Social Vulnerability Of The People Exposed To Wildfires In Us West Coast States, Arash Modaresi Rad, John T Abatzoglou, Erica Fleishman, Miranda H Mockrin, Volker C Radeloff, Megan Cattau, Philip Higuera, Nicholas J Nauslar, Mojtaba Sadegh
Faculty, Staff and Student Publications
Understanding of the vulnerability of populations exposed to wildfires is limited. We used an index from the U.S. Centers for Disease Control and Prevention to assess the social vulnerability of populations exposed to wildfire from 2000-2021 in California, Oregon, and Washington, which accounted for 90% of exposures in the western United States. The number of people exposed to fire from 2000-2010 to 2011-2021 increased substantially, with the largest increase, nearly 250%, for people with high social vulnerability. In Oregon and Washington, a higher percentage of exposed people were highly vulnerable (>40%) than in California (~8%). Increased social vulnerability of …
Applications Of Degradable Hydrogels In Novel Approaches To Disease Treatment And New Modes Of Drug Delivery
Faculty, Staff and Student Publications
Hydrogels are particularly suitable materials for loading drug delivery agents; their high water content provides a biocompatible environment for most biomolecules, and their cross-linked nature protects the loaded agents from damage. During delivery, the delivered substance usually needs to be released gradually over time, which can be achieved by degradable cross-linked chains. In recent years, biodegradable hydrogels have become a promising technology in new methods of disease treatment and drug delivery methods due to their many advantageous properties. This review briefly discusses the degradation mechanisms of different types of biodegradable hydrogel systems and introduces the specific applications of degradable hydrogels …
Prevalence Of Fibromyalgia And Chronic Fatigue Syndrome Among Individuals With Irritable Bowel Syndrome: An Analysis Of United States National Inpatient Sample Database, Yezaz A Ghouri
Faculty, Staff and Student Publications
Background and Aim: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder associated with other somatic disorders. We studied the prevalence and predictors of fibromyalgia and chronic fatigue syndrome (CFS) in IBS patients. Methods: We used the National Inpatient Sample and included hospitalization of individuals with IBS, using ICD-10 codes, from 2016–2019. The prevalence and predictors of fibromyalgia and CFS in IBS patients were studied. Univariate and multivariate patient- and hospital-level regression models were used to calculate the adjusted odds of fibromyalgia and CFS in the IBS patient population. Results: Of 1,256,325 patients with an ICD-10 code of IBS included …
Boosting Glycolysis To Combat Fragile Bone In Type 1 Diabetes
Boosting Glycolysis To Combat Fragile Bone In Type 1 Diabetes
Faculty, Staff and Students Publications
Individuals with type 1 diabetes (T1D) have an increased risk of osteoporosis and fracture. In this issue of Cell Chemical Biology, Ji et al.1 show that impaired glucose metabolism in the bone-forming osteoblast drives diabetic osteoporosis in Akita mice, a mouse model of T1D.
Epichaperome Inhibition Targets Tp53-Mutant Aml And Aml Stem/Progenitor Cells, Bing Z Carter, Po Yee Mak, Muharrem Muftuoglu, Wenjing Tao, Baozhen Ke, Andrea D Bedoy, Yuki Nishida, Sevinj Isgandarova, Mary Sobieski, Nghi Nguyen, Reid T Powell, Margarita Martinez-Moczygemba, Clifford Stephan, Mahesh Basyal, Naveen Pemmaraju, Steffen Boettcher, Benjamin L Ebert, Elizabeth J Shpall, Barbara Wallner, Robert A Morgan, Georgios I Karras, Ute M Moll, Michael Andreeff
Epichaperome Inhibition Targets Tp53-Mutant Aml And Aml Stem/Progenitor Cells, Bing Z Carter, Po Yee Mak, Muharrem Muftuoglu, Wenjing Tao, Baozhen Ke, Andrea D Bedoy, Yuki Nishida, Sevinj Isgandarova, Mary Sobieski, Nghi Nguyen, Reid T Powell, Margarita Martinez-Moczygemba, Clifford Stephan, Mahesh Basyal, Naveen Pemmaraju, Steffen Boettcher, Benjamin L Ebert, Elizabeth J Shpall, Barbara Wallner, Robert A Morgan, Georgios I Karras, Ute M Moll, Michael Andreeff
Faculty, Staff and Student Publications
TP 53-mutant acute myeloid leukemia (AML) remains the ultimate therapeutic challenge. Epichaperomes, formed in malignant cells, consist of heat shock protein 90 (HSP90) and associated proteins that support the maturation, activity, and stability of oncogenic kinases and transcription factors including mutant p53. High-throughput drug screening identified HSP90 inhibitors as top hits in isogenic TP53-wild-type (WT) and -mutant AML cells. We detected epichaperomes in AML cells and stem/progenitor cells with TP53 mutations but not in healthy bone marrow (BM) cells. Hence, we investigated the therapeutic potential of specifically targeting epichaperomes with PU-H71 in TP53-mutant AML based on its preferred binding to …
Response Patterns And Impact Of Mrd In Patients With Idh1/2-Mutated Aml Treated With Venetoclax And Hypomethylating Agents, Danielle Hammond, Sanam Loghavi, Sa A Wang, Marina Y Konopleva, Tapan M Kadia, Maro Ohanian, Yesid Alvarado, Nicholas J Short, Koji Sasaki, Naveen Pemmaraju, Guillermo Montalban-Bravo, Curtis A Lachowiez, Abhishek Maiti, Guillermo Garcia-Manero, Elias J Jabbour, Gautam Borthakur, Farhad Ravandi, Koichi Takahashi, Sherry R Pierce, Hagop M Kantarjian, Courtney D Dinardo
Response Patterns And Impact Of Mrd In Patients With Idh1/2-Mutated Aml Treated With Venetoclax And Hypomethylating Agents, Danielle Hammond, Sanam Loghavi, Sa A Wang, Marina Y Konopleva, Tapan M Kadia, Maro Ohanian, Yesid Alvarado, Nicholas J Short, Koji Sasaki, Naveen Pemmaraju, Guillermo Montalban-Bravo, Curtis A Lachowiez, Abhishek Maiti, Guillermo Garcia-Manero, Elias J Jabbour, Gautam Borthakur, Farhad Ravandi, Koichi Takahashi, Sherry R Pierce, Hagop M Kantarjian, Courtney D Dinardo
Faculty, Staff and Student Publications
No abstract provided.
Evaluation Of Acceptability, Functionality, And Validity Of A Passive Image-Based Dietary Intake Assessment Method In Adults And Children Of Ghanaian And Kenyan Origin Living In London, Uk, Modou L Jobarteh, Megan A Mccrory, Benny Lo, Konstantinos K Triantafyllidis, Jianing Qiu, Jennifer P Griffin, Edward Sazonov, Mingui Sun, Wenyan Jia, Tom Baranowski, Alex K Anderson, Kathryn Maitland, Gary Frost
Evaluation Of Acceptability, Functionality, And Validity Of A Passive Image-Based Dietary Intake Assessment Method In Adults And Children Of Ghanaian And Kenyan Origin Living In London, Uk, Modou L Jobarteh, Megan A Mccrory, Benny Lo, Konstantinos K Triantafyllidis, Jianing Qiu, Jennifer P Griffin, Edward Sazonov, Mingui Sun, Wenyan Jia, Tom Baranowski, Alex K Anderson, Kathryn Maitland, Gary Frost
Children’s Nutrition Research Center Staff Publications
Background: Accurate estimation of dietary intake is challenging. However, whilst some progress has been made in high-income countries, low- and middle-income countries (LMICs) remain behind, contributing to critical nutritional data gaps. This study aimed to validate an objective, passive image-based dietary intake assessment method against weighed food records in London, UK, for onward deployment to LMICs.
Methods: Wearable camera devices were used to capture food intake on eating occasions in 18 adults and 17 children of Ghanaian and Kenyan origin living in London. Participants were provided pre-weighed meals of Ghanaian and Kenyan cuisine and camera devices to automatically capture images …
Kcnq2/3 Gain-Of-Function Variants And Cell Excitability: Differential Effects In Ca1 Versus L2/3 Pyramidal Neurons, Kristen Springer, Erika Ortiz, Heun Soh, Sabato Santaniello, Atul Maheshwari, Anastasios V Tzingounis
Kcnq2/3 Gain-Of-Function Variants And Cell Excitability: Differential Effects In Ca1 Versus L2/3 Pyramidal Neurons, Kristen Springer, Erika Ortiz, Heun Soh, Sabato Santaniello, Atul Maheshwari, Anastasios V Tzingounis
Faculty, Staff and Students Publications
Gain-of-function (GOF) pathogenic variants in the potassium channels KCNQ2 and KCNQ3 lead to hyperexcitability disorders such as epilepsy and autism spectrum disorders. However, the underlying cellular mechanisms of how these variants impair forebrain function are unclear. Here, we show that the R201C variant in KCNQ2 has opposite effects on the excitability of two types of mouse pyramidal neurons of either sex, causing hyperexcitability in layer 2/3 (L2/3) pyramidal neurons and hypoexcitability in CA1 pyramidal neurons. Similarly, the homologous R231C variant in KCNQ3 leads to hyperexcitability in L2/3 pyramidal neurons and hypoexcitability in CA1 pyramidal neurons. However, the effects of KCNQ3 …