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Articles 9271 - 9300 of 96595
Full-Text Articles in Entire DC Network
The Role Of Biological Sex In The Treatment Of Acute Cholecystitis, Desiree Duncan, Camden Gardner, Polina Chuikov, Matthew George, Sadaf Hashemian, Jeffrey Johnson, Md
The Role Of Biological Sex In The Treatment Of Acute Cholecystitis, Desiree Duncan, Camden Gardner, Polina Chuikov, Matthew George, Sadaf Hashemian, Jeffrey Johnson, Md
Medical Student Research Symposium
Background
Some patients with symptomatic gallstones present with more severe disease, have more difficult anatomy and require more complex operations. While cholecystitis has a female preponderance, some observe a trend towards more challenging disease in male patients. The confluence of gender and patient acuity has not been thoroughly investigated. We hypothesize that males present with worse disease compared to females.
Methods
The analysis cohort of adults who underwent cholecystectomies was filtered from a five-hospital health system administration registry containing inpatients admitted from Fall 2015 to Fall 2021. The dataset contained demographics, health characteristics, and variables reflecting disease severity and acuity. …
A Long Non-Coding Erna Forms R-Loops To Shape Emotional Experience-Induced Behavioral Adaptations, Rose Marie Akiki
A Long Non-Coding Erna Forms R-Loops To Shape Emotional Experience-Induced Behavioral Adaptations, Rose Marie Akiki
MUSC Theses and Dissertations
Emotional experiences often evoke neural plasticity that supports adaptive changes in behavior, including maladaptive plasticity associated with mood and substance use disorders. These adaptations are supported in part by experience-dependent activation of immediate-early response genes, such as Npas4. We discovered that a conserved, long non-coding enhancer RNA (lnc-eRNA) transcribed from an activity-sensitive enhancer produces DNA-RNA hybrid R-loop structures that support 3D chromatin-looping of the enhancer and proximal promoter and stimulus-induced, rapid Npas4 gene induction. We also show that this Npas4 lnceRNA and its R-loops are required for the development of behavioral adaptations produced by chronic psychosocial stress or cocaine exposure, …
The Impact Of Childhood Sexual Abuse On Resilience And Empathy In Adulthood: Exploring Psychological Outcomes And Interrelationships Among Adult Survivors, Helen Dao
NYMC Student Theses and Dissertations
Background: Childhood sexual abuse (CSA) is a traumatic experience that can have lasting psychological impacts on its survivors. Resilience and empathy are crucial for the recovery and social functioning of CSA survivors. However, the relationship between CSA and these constructs remains complex and not fully understood. Purpose: This study aimed to determine whether significant differences exist between individuals who have experienced CSA and those who have not. Additionally, the study also investigated the relationship between empathy and resilience. Methodology: A cross-sectional study was conducted with 36 adult participants, including CSA survivors and non-CSA participants. The Connor-Davidson Resilience Scale was used …
Social Support And Treatment Outcomes Among Multi-Drug Resistant Tuberculosis And Persons Living With Hiv In Nigeria, Abiodun Olusegun Hassan
Social Support And Treatment Outcomes Among Multi-Drug Resistant Tuberculosis And Persons Living With Hiv In Nigeria, Abiodun Olusegun Hassan
Walden Dissertations and Doctoral Studies
An estimated 40% of people with tuberculosis (TB) are missed due to underdiagnosis, and among those previously treated TB cases, about a quarter develop drug-resistant TB in Nigeria. The emergence of multi-drug-resistant TB (MDR-TB) is stalling the effort towards TB’s control and eradication. Few studies have examined the impact of the psychosocial effect and support systems for TB, particularly for MDR-TB. In this quantitative, cross-sectional study, the predictive relationship between social support given to MDR-TB patients and their treatment outcomes was examined using secondary data of 594 MDR-TB cases enrolled between January 2018 and December 2021. The theoretical framework for …
Case Report: Myeloid Neoplasms With The T(3;12)(Q26.2;P13.1)/ Mecom-Etv6 Translocation: Report Of Two New Cases And Review Of The Literature, Soumya Mikkilineni, Juan Pablo Pineda-Reyes, Lindsay Wilde, Andres Ferber, Zi-Xuan Wang, Stephen Peiper, Guldeep Uppal, Md, Jerald Gong, Jinglan Liu
Case Report: Myeloid Neoplasms With The T(3;12)(Q26.2;P13.1)/ Mecom-Etv6 Translocation: Report Of Two New Cases And Review Of The Literature, Soumya Mikkilineni, Juan Pablo Pineda-Reyes, Lindsay Wilde, Andres Ferber, Zi-Xuan Wang, Stephen Peiper, Guldeep Uppal, Md, Jerald Gong, Jinglan Liu
Department of Pathology, Anatomy, and Cell Biology Faculty Papers
The MECOM (MDS1 and EVI1 complex locus) gene, located at 3q26.2, encodes an oncogenic transcription factor implicated in multiple signaling pathways. Rearrangements involving MECOM/3q26.2, including inversions, translocations, insertions and cryptic chromosomal changes, are observed in myeloid neoplasms and are associated with high-risk disease features and poor clinical outcomes. The translocation t(3;12)(q26.2;p13.1) is a rare genetic event, resulting in a fusion of the MECOM gene at 3q26.2 with the ETV6 gene at 12p13.1. To date, only 78 cases of hematologic neoplasms harboring t(3;12) have been reported in the English literature, primarily as case reports or case series. T(3;12) has …
Normalized And Directional Interplay Scoring For The Interrogation Of Proteoform Data
Normalized And Directional Interplay Scoring For The Interrogation Of Proteoform Data
Faculty, Staff and Students Publications
Histone proteoforms, often presenting multiple co-occurring post-translational modifications (PTMs), are central to chromatin regulation and gene expression. A proteoform is a specific form of a protein that includes variations arising from genetic changes, alternative RNA splicing, proteolytic processing, and PTMs. Genome-indexed histone proteoforms define the histone code, influencing cellular phenotype by dictating DNA interacting partners. Understanding the dynamics of histone proteoforms is essential for elucidating chromatin-based regulatory mechanisms. Advances in middle-down and top-down proteomics enable accurate identification and quantitation of thousands of proteoforms in a single run. However, the resulting data complexity presents significant challenges for analysis and visualization. Here, …
Bright And Photostable Yellow Fluorescent Proteins For Extended Imaging, Shiqun Zhao, Francisco A Blanco, Anne C Lyons, Raquel Merino-Urteaga, John F Ahrens, Nathan A Nguyen, Haixin Liu, Zhuohe Liu, Gerard G Lambert, Nathan C Shaner, Liangyi Chen, Kimberley F Tolias, Jin Zhang, Taekjip Ha, François St-Pierre
Bright And Photostable Yellow Fluorescent Proteins For Extended Imaging, Shiqun Zhao, Francisco A Blanco, Anne C Lyons, Raquel Merino-Urteaga, John F Ahrens, Nathan A Nguyen, Haixin Liu, Zhuohe Liu, Gerard G Lambert, Nathan C Shaner, Liangyi Chen, Kimberley F Tolias, Jin Zhang, Taekjip Ha, François St-Pierre
Faculty, Staff and Students Publications
Fluorescent proteins are indispensable molecular tools for visualizing biological structures and processes, but their limited photostability restricts the duration of dynamic imaging experiments. Yellow fluorescent proteins (YFPs), in particular, photobleach rapidly. Here, we introduce mGold2s and mGold2t, YFPs with up to 25-fold greater photostability than mVenus and mCitrine, two commonly used YFPs, while maintaining comparable brightness. These variants were identified using a high-throughput pooled single-cell platform, simultaneously screening for high brightness and photostability. Compared with our previous benchmark, mGold, the mGold2 variants display a ~4-fold increase in photostability without sacrificing brightness. mGold2s and mGold2t extend imaging durations across diverse modalities, …
Culturally Appropriate Mental Health Awareness To Reduce Mental Health Stigmatization And Improve Quality Of Life Among People Of African Descent., Nicoline Frinwie
Culturally Appropriate Mental Health Awareness To Reduce Mental Health Stigmatization And Improve Quality Of Life Among People Of African Descent., Nicoline Frinwie
Walden Dissertations and Doctoral Studies
No abstract provided.
Alpha-Synuclein Seed Amplification Assays: Data Sharing, Standardization Needed For Clinical Use, Byron Caughey, Ronald Melki
Alpha-Synuclein Seed Amplification Assays: Data Sharing, Standardization Needed For Clinical Use, Byron Caughey, Ronald Melki
Faculty, Staff and Student Publications
Alpha-synuclein seed amplification assays can improve neurodegenerative disease diagnosis and care, but widespread use depends on a framework that standardizes protocols and encourages data sharing.
The Efficacy And Safety Profile Of Adalimumab And Secukinumab In Treating Hidradenitis Suppurativa, Abby Witte, Ella Eibensteiner, Madelyn Wilkinson, Andrea Crew
The Efficacy And Safety Profile Of Adalimumab And Secukinumab In Treating Hidradenitis Suppurativa, Abby Witte, Ella Eibensteiner, Madelyn Wilkinson, Andrea Crew
Celebration of Research
Hidradenitis suppurativa is a chronic inflammatory disorder of the follicular epithelium in the axilla, groin, peritoneum, and intertriginous areas that presents with painful nodules and abscesses. Due to the poorly understood etiology of the disorder, there are various different treatment options targeting proposed mechanisms of actions which results in a lot of trial and error to find the appropriate treatment plan. Clinicians must consider the whole patient while understanding the efficacy of the medication, possible adverse reactions, and patient compliance when creating a treatment plan, especially with the use of systematic biologics. This review aims to compare two currently FDA-approved …
Determining The Wound Closure Capabilities Of A Biological Engineered Blood Vessel For Hd Access, Brianna Regan, Alex Dumitru, Mai Lam
Determining The Wound Closure Capabilities Of A Biological Engineered Blood Vessel For Hd Access, Brianna Regan, Alex Dumitru, Mai Lam
Medical Student Research Symposium
End stage renal disease (ESRD) is a prominent chronic condition with dialysis as a primary treatment option. Dialysis necessitates implementation of an access point, with the gold standard being an AV fistula which possesses multiple shortcomings. Alternative access points, namely synthetic grafts, do not allow wound healing characteristics. This work aims to explore how a tissue engineered vascular graft (TEVG) may be able to address these issues by allowing a long-term access point for HD that can close puncture wounds.
The effects of growth factors on our cells were tested preliminarily by means of a scratch assay on plates of …
Analysis Of Chromatin Accessibility Changes In Endothelial Cells Exposed To Plastic Contaminants, Mikhail Y. Salnikov, Carly Boye, David B. Witonsky, Gabrielle Garlicki, Adnan Alazizi, Francesca Luca, Roger Pique-Regi
Analysis Of Chromatin Accessibility Changes In Endothelial Cells Exposed To Plastic Contaminants, Mikhail Y. Salnikov, Carly Boye, David B. Witonsky, Gabrielle Garlicki, Adnan Alazizi, Francesca Luca, Roger Pique-Regi
Medical Student Research Symposium
Degradation products from everyday plastic products are known to bioaccumulate and have also been shown to contaminate drinking water and food sources. BPA and phthalates are endocrine disrupting chemicals and plastic components that have previously been associated with endothelial cell dysfunction, atherosclerotic and other adverse cardiovascular events. However, there is a limited understanding of the mechanisms underlying these associations, such as genome-wide chromatin accessibility changes in endothelial cells exposed to these compounds. The purpose of this study is to explore genome-wide changes in chromatin accessibility associated with plastic exposure, as well as the discovery of transcription factor binding motifs dysregulated …
Characterizing Kmt2d In Endometrial Cancer, Katherine R. Davanzo
Characterizing Kmt2d In Endometrial Cancer, Katherine R. Davanzo
Medical Student Research Symposium
Endometrial cancer is rising in incidence in the United States, notably among premenopausal women. This increase and the trend of delayed childbearing warrant the need for further advancement in fertility-sparing treatment for endometrial cancer. A gene left widely unexplored in its possible clinical utility as a target for fertility-sparing treatment is KMT2D, a lysine-specific methyltransferase and tumor suppressor. Preliminary gene set enrichment analysis on a 12Z endometriotic epithelial cell line identified TIMP3 as a gene that is possibly regulated by KMT2D expression. TIMP3 encodes an irreversible inhibitor of matrix metalloproteinases (MMPs), a well-recognized class of proteins as contributing to the …
Skin Of Color Representation In Biologic Advertisements For Psoriasis And Psoriatic Arthritis, Grace Doakes, Sydney Martin, Melissa Baithey, Julia Riley, Kelsey Flood, Rithu Srikantha
Skin Of Color Representation In Biologic Advertisements For Psoriasis And Psoriatic Arthritis, Grace Doakes, Sydney Martin, Melissa Baithey, Julia Riley, Kelsey Flood, Rithu Srikantha
Medical Student Research Symposium
Skin of color (SoC) patients with psoriasis experience more severe disease, lower quality of life, and increased psoriasis-related hospitalizations compared to non-SoC counterparts (1-2). SoC patients with psoriasis demonstrate decreased familiarity with biologic medications (3-4) , which could lead to undertreatment and greater disease burden. In light of previous findings indicating inadequate SoC representation in dermatologic direct-to-consumer (DTC) advertising, we compared skin tone representation in patient-facing materials for 13 biologics FDA-approved for psoriasis and psoriatic arthritis (PsA) on pharmaceutical DTC advertising websites from July 20, 2023 to August 20, 2023. Images of 331 people, excluding videos, were analyzed via Fitzpatrick …
Implications Of Glyphosate-Based Herbicides On The Female Reproductive System And Reproductive Outcomes, Alexandra Stone, Olivia G. Camp Ms, David Bai Md, Awoniyi Awonuga, Husam M. Abu-Soud
Implications Of Glyphosate-Based Herbicides On The Female Reproductive System And Reproductive Outcomes, Alexandra Stone, Olivia G. Camp Ms, David Bai Md, Awoniyi Awonuga, Husam M. Abu-Soud
Medical Student Research Symposium
Background
Glyphosate-based herbicides (GBHs) are the most widely used herbicides in the United States, accounting for 19% of estimated global use. Although the Environmental Protection Agency has reaffirmed that the active ingredient glyphosate (GLY) is safe for humans, recent studies on exposure have suggested an association with cancer, metabolic disorders, endocrine disruption and infertility, and Alzheimer’s and Parkinson’s disease. Recently, we have shown that GLY exposure deteriorates metaphase II oocyte quality through zinc deficiency, ROS accumulation, and chromosome disruption. In this work, we review the mechanisms of GLY toxicity in the female reproductive tract and discuss the potential clinical implications …
Androgen Hormones Regulate The Production On The Pain-Inducing Inflammatory Molecule Il-1Β In A Mouse Model Of Inflammatory Pain, Hariharan Ramakrishnan, Geoffroy Laumet, Jaewon Sim
Androgen Hormones Regulate The Production On The Pain-Inducing Inflammatory Molecule Il-1Β In A Mouse Model Of Inflammatory Pain, Hariharan Ramakrishnan, Geoffroy Laumet, Jaewon Sim
Medical Student Research Symposium
Chronic pain prevalence varies between sexes with a higher incidence and duration reported in women compared to men. This disparity suggests that biological factors, such as sexual hormones, may influence pain perception and development. Among the key players in pain mechanisms, interleukin-1 beta (IL-1β), an inflammatory molecule, has been identified to activate neurons involved in pain sensation. This study explores the hypothesis that sexual hormones, particularly androgens, regulate IL-1β production in inflamed tissues, thereby influencing pain responses. To investigate this, we induced inflammatory pain in male and female mice using Complete Freund’s Adjuvant (CFA), injected into the hind paw. To …
The Role Of Age, Experience, And Physical Fitness In Technical Performance In Karate: An Observational Analysis, Rui Miguel Silva, Joaquim Ferreira, Georgian Badicu, Jarosław Muracki, Beata Pożarowszczyk-Kuczko, Adam Kawczyński
The Role Of Age, Experience, And Physical Fitness In Technical Performance In Karate: An Observational Analysis, Rui Miguel Silva, Joaquim Ferreira, Georgian Badicu, Jarosław Muracki, Beata Pożarowszczyk-Kuczko, Adam Kawczyński
Baltic Journal of Health and Physical Activity
Background: This study aimed to investigate the relationships between age, experience, anthropometric measures, physical fitness, and the quality of technical performance in karate practitioners. We conducted an observational cross-sectional study with 53 federated karate athletes, aged 5 to 55, affiliated with the Youth Karate Association Portugal. The participants were divided into age and experience groups to assess differences in anthropometric measures (body mass, height, BMI) and physical fitness (strength, power, flexibility). The technical performance of four specific karate techniques – kizami, gyaku zuki, mawashi geri, and ura mawashi geri – was evaluated using a custom-designed technical evaluation …
Safety Study Of Polyunsaturated Fatty Acids Extracted From New Zealand Green Lipped Mussel And Krill On Hematology And Blood Chemistry Profiles Of Healthy Dogs And Cats, Uttra Jamikorn, Panumas Kongpanna
Safety Study Of Polyunsaturated Fatty Acids Extracted From New Zealand Green Lipped Mussel And Krill On Hematology And Blood Chemistry Profiles Of Healthy Dogs And Cats, Uttra Jamikorn, Panumas Kongpanna
The Thai Journal of Veterinary Medicine
New Zealand green-lipped mussel (Perna canaliculus) is a shellfish with a green shell containing many types of fatty acids, especially polyunsaturated fatty acids (PUFAs). The aim of the present study was to investigate the safety of dietary PUFAs supplementation on blood hematology, chemistry and coagulogram pancreatic enzymes in dogs and cats. Twelve healthy beagle dogs and healthy mature cats were used in these studies. Complete randomized block and triplicate 4×4 Latin square designs were used for these dog and cat safety studies, respectively. Experimental diets composed of sham control (0X) and 3 treatment groups, including 1X, 3X, and …
Medical School Watercooler Newsletter - April 3, 2025, Lindsay Hughes
Medical School Watercooler Newsletter - April 3, 2025, Lindsay Hughes
Watercooler Newsletter
This is the Thursday, April 3, 2025 edition of the Frederick P. Whiddon College of Medicine's newsletter -- Watercooler.
Contents include:
- USA scientist challenges study on mitochondrial DNA inheritance
- EDGE session focuses on communication, collaboration and 'Crucial Conversations'
- Whiddon COM hosts internal medicine meeting about precision healthcare
- 'IMPROV Your Networking' event builds student confidence, connection skills
- Medical student awarded scholarship from USA Department of Neurology
- Radiology residents receive Outstanding Trainee Poster Award at Southern Radiological Conference
De Novo Variants In Cdkl1 And Cdkl2 Are Associated With Neurodevelopmental Symptoms, Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja, Stephanie Bivona, Wendy K Chung, Shinya Yamamoto, Michael F Wangler, Shane Mckee, Mustafa Tekin, Hugo J Bellen, Oguz Kanca
De Novo Variants In Cdkl1 And Cdkl2 Are Associated With Neurodevelopmental Symptoms, Ali H Bereshneh, Jonathan C Andrews, Daniel F Eberl, Guney Bademci, Nicholas A Borja, Stephanie Bivona, Wendy K Chung, Shinya Yamamoto, Michael F Wangler, Shane Mckee, Mustafa Tekin, Hugo J Bellen, Oguz Kanca
Duncan NRI Faculty and Staff Publications
The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and variants in CDKL5 cause developmental and epileptic encephalopathy type 2 (DEE2). Here, we study four de novo variants in CDKL2 identified in five individuals, including three unrelated probands and monozygotic twins. These individuals present with overlapping symptoms, including global developmental delay, intellectual disability, childhood-onset epilepsy, dyspraxia, and speech deficits. We also identified two individuals with de novo missense variants in CDKL1 in the published Deciphering Developmental Disorders (DDD) and GeneDx …
The Effects Of Diluted Fungicide On Western Tiger Salamander (Ambystoma Mavortium) Health, Sage Veomett
The Effects Of Diluted Fungicide On Western Tiger Salamander (Ambystoma Mavortium) Health, Sage Veomett
Honors Program: Senior Projects (Public)
The Western Tiger Salamander (Ambystoma mavortium) is a species of salamander that is native to Nebraska. The Western Tiger Salamander population has been in decline, specifically in Southeast Nebraska (Ferraro, 2016). The purpose of this study was to determine whether low levels of Azoxystrobin fungicide deposited in the soil are harmful to the Western Tiger Salamander. In this study, soil in tanks containing pairs of Western Tiger Salamanders was treated with levels of Azoxystrobin 0.5x under the recommended label amount for usage. Fifteen salamanders in total were used. Four tanks of salamander pairs were treated with the Azoxystrobin …
Biochemical Profiling And Structural Basis Of Adar1-Mediated Rna Editing, Rashmi Basavaraj, Jin Wang, Yi-Lan Weng, Yang Gao
Biochemical Profiling And Structural Basis Of Adar1-Mediated Rna Editing, Rashmi Basavaraj, Jin Wang, Yi-Lan Weng, Yang Gao
Faculty, Staff and Students Publications
ADAR1 regulates RNA-induced immune responses by converting adenosine to inosine in double-stranded RNA. Mutations in ADAR1 are associated with human autoimmune disease, and targeting ADAR1 has been proposed for cancer immunotherapy. However, the molecular mechanisms underlying ADAR1-mediated editing remain unclear. Here, we provide detailed biochemical and structural characterizations of human ADAR1. Our biochemical profiling reveals that ADAR1 editing is both sequence and RNA-duplex-length dependent but can well tolerate mismatches near the editing site. High-resolution ADAR1-RNA complex structures, combined with mutagenesis, elucidate RNA binding, substrate selection, dimerization, and the essential role of RNA-binding domain 3. The ADAR1 structures also help explain …
Widespread Variation In Molecular Interactions And Regulatory Properties Among Transcription Factor Isoforms, Gloria Sheynkman, Sachi Inukai, Babita Kaundal, Anna Berenson, Kerstin Spirohn-Fitzgerald, Anukana Bhattacharjee, Elisabeth Rothman, Shaleen Shrestha, Florent Laval, Brent S Carroll, Stephen P Plassmeyer, Ryan J Emenecker, Zhipeng Yang, Deepa Bisht, Jared A Sewell, Guangyuan Li, Anisa Prasad, Sabrina Phanor, Ryan Lane, Devlin C Moyer, Toby Hunt, Dawit Balcha, Marinella Gebbia, Jean-Claude Twizere, Tong Hao, Alex S Holehouse, Adam Frankish, Josh A Riback, Nathan Salomonis, Michael A Calderwood, David E Hill, Nidhi Sahni, Marc Vidal, Martha L Bulyk, Juan I Fuxman Bass
Widespread Variation In Molecular Interactions And Regulatory Properties Among Transcription Factor Isoforms, Gloria Sheynkman, Sachi Inukai, Babita Kaundal, Anna Berenson, Kerstin Spirohn-Fitzgerald, Anukana Bhattacharjee, Elisabeth Rothman, Shaleen Shrestha, Florent Laval, Brent S Carroll, Stephen P Plassmeyer, Ryan J Emenecker, Zhipeng Yang, Deepa Bisht, Jared A Sewell, Guangyuan Li, Anisa Prasad, Sabrina Phanor, Ryan Lane, Devlin C Moyer, Toby Hunt, Dawit Balcha, Marinella Gebbia, Jean-Claude Twizere, Tong Hao, Alex S Holehouse, Adam Frankish, Josh A Riback, Nathan Salomonis, Michael A Calderwood, David E Hill, Nidhi Sahni, Marc Vidal, Martha L Bulyk, Juan I Fuxman Bass
Faculty, Staff and Students Publications
Most human transcription factor (TF) genes encode multiple protein isoforms differing in DNA-binding domains, effector domains, or other protein regions. The global extent to which this results in functional differences between isoforms remains unknown. Here, we systematically compared 693 isoforms of 246 TF genes, assessing DNA binding, protein binding, transcriptional activation, subcellular localization, and condensate formation. Relative to reference isoforms, two-thirds of alternative TF isoforms exhibit differences in one or more molecular activities, which often could not be predicted from sequence. We observed two primary categories of alternative TF isoforms: "rewirers" and "negative regulators," both of which were associated with …
Breaking The Synaptic Vesicle Cycle: Mechanistic Insights Into Presynaptic Dysfunctions In Epilepsy, Kevin Jiang, Lu-Tang Yang, Mingshan Xue
Breaking The Synaptic Vesicle Cycle: Mechanistic Insights Into Presynaptic Dysfunctions In Epilepsy, Kevin Jiang, Lu-Tang Yang, Mingshan Xue
Duncan NRI Faculty and Staff Publications
Synaptic dysfunction is a hallmark of many neurological disorders including epilepsy. An increasing number of epilepsy-causing pathogenic variants are being identified in genes encoding presynaptic proteins that affect every step of the synaptic vesicle cycle, from vesicle loading, tethering, docking, priming, calcium sensing, fusing, to recycling. These different molecular dysfunctions result in converging impairment of presynaptic neurotransmitter release, yet lead to diverse epileptic disorders. This review focuses on representative monogenic epileptic disorders caused by pathogenic variants of key presynaptic proteins involved in different stages of the synaptic vesicle cycle: SYN1 (vesicle pool regulation), STXBP1 (vesicle docking, priming, and fusion), and …
Oral Hygiene And Cardiovascular Health, Md. S. Zaman, S. M. Golam Alam, Mohammed S. Razzaque
Oral Hygiene And Cardiovascular Health, Md. S. Zaman, S. M. Golam Alam, Mohammed S. Razzaque
School of Medicine Publications
The human oral microbiome plays a vital role in maintaining oral and systemic health. This diverse microbial community includes over 700 bacterial species, some of which are implicated in developing systemic diseases, particularly cardiovascular diseases (CVDs). Research highlights a strong association between periodontal disease and increased cardiovascular risk, suggesting that good oral hygiene practices may reduce the incidence of CVDs. Porphyromonas gingivalis and Fusobacterium nucleatum drive chronic inflammation in periodontal disease; these bacteria can extend beyond the mouth and contribute to systemic inflammatory responses. The inflammatory factors, including C-reactive protein (CRP), interleukins (IL-1, IL-6), and tumor necrosis factor-alpha (TNF-α), damage …
Hif Regulates Multiple Translated Endogenous Retroviruses: Implications For Cancer Immunotherapy, Qinqin Jiang, David A Braun, Karl R Clauser, Vijyendra Ramesh, Nitin H Shirole, Nancy Nabilsi, Cleo Forman, Isabelle E Lippincott, Susan Klaeger, Kshiti M Phulphagar, Vipheaviny Chea, Nawoo Kim, Allison P Vanasse, Eddy Saad, Teagan Parsons, Melissa Carr-Reynolds, Isabel Carulli, Katarina Pinjusic, Yijia Jiang, Rong Li, Sudeepa Syamala, Suzanna Rachimi, Eva K Verzani, Jonathan D Stevens, William J Lane, Sabrina Y Camp, Kevin Meli, Melissa B Pappalardi, Zachary T Herbert, Xintao Qiu, Paloma Cejas, Henry W Long, Sachet A Shukla, Eliezer M Van Allen, Toni K Choueiri, L Stirling Churchman, Jennifer G Abelin, Cagan Gurer, Gavin Macbeath, Richard W Childs, Steven A Carr, Derin B Keskin, Catherine J Wu, William G Kaelin
Hif Regulates Multiple Translated Endogenous Retroviruses: Implications For Cancer Immunotherapy, Qinqin Jiang, David A Braun, Karl R Clauser, Vijyendra Ramesh, Nitin H Shirole, Nancy Nabilsi, Cleo Forman, Isabelle E Lippincott, Susan Klaeger, Kshiti M Phulphagar, Vipheaviny Chea, Nawoo Kim, Allison P Vanasse, Eddy Saad, Teagan Parsons, Melissa Carr-Reynolds, Isabel Carulli, Katarina Pinjusic, Yijia Jiang, Rong Li, Sudeepa Syamala, Suzanna Rachimi, Eva K Verzani, Jonathan D Stevens, William J Lane, Sabrina Y Camp, Kevin Meli, Melissa B Pappalardi, Zachary T Herbert, Xintao Qiu, Paloma Cejas, Henry W Long, Sachet A Shukla, Eliezer M Van Allen, Toni K Choueiri, L Stirling Churchman, Jennifer G Abelin, Cagan Gurer, Gavin Macbeath, Richard W Childs, Steven A Carr, Derin B Keskin, Catherine J Wu, William G Kaelin
Faculty, Staff and Student Publications
Clear cell renal cell carcinoma (ccRCC), despite having a low mutational burden, is considered immunogenic because it occasionally undergoes spontaneous regressions and often responds to immunotherapies. The signature lesion in ccRCC is inactivation of the VHL tumor suppressor gene and consequent upregulation of the HIF transcription factor. An earlier case report described a ccRCC patient who was cured by an allogeneic stem cell transplant and later found to have donor-derived T cells that recognized a ccRCC-specific peptide encoded by a HIF-responsive endogenous retrovirus (ERV), ERVE-4. We report that ERVE-4 is one of many ERVs that are induced by HIF, translated …
Bone-Induced Her2 Promotes Secondary Metastasis In Hr+/Her2- Breast Cancer, Bree M Lege, Laura S Munoz-Arcos, Carolina Reduzzi, Swarnima Singh, Xiaoxin Hao, Yi-Hsuan Wu, Zeru Tian, Laura M Natalee, Gargi Damle, Deniz Demircioglu, Yixian Wang, Ling Wu, Elisabetta Molteni, Dan Hasson, Bora Lim, Zbigniew Gugala, Jerry E Chipuk, Julie E Lang, Joseph A Sparano, Chonghui Cheng, Massimo Cristofanilli, Han Xiao, Xiang H-F Zhang, Igor L Bado
Bone-Induced Her2 Promotes Secondary Metastasis In Hr+/Her2- Breast Cancer, Bree M Lege, Laura S Munoz-Arcos, Carolina Reduzzi, Swarnima Singh, Xiaoxin Hao, Yi-Hsuan Wu, Zeru Tian, Laura M Natalee, Gargi Damle, Deniz Demircioglu, Yixian Wang, Ling Wu, Elisabetta Molteni, Dan Hasson, Bora Lim, Zbigniew Gugala, Jerry E Chipuk, Julie E Lang, Joseph A Sparano, Chonghui Cheng, Massimo Cristofanilli, Han Xiao, Xiang H-F Zhang, Igor L Bado
Faculty, Staff and Students Publications
Bone metastases can disseminate to secondary sites and promote breast cancer progression creating additional clinical challenges. The mechanisms contributing to secondary metastasis are barely understood. Here, we evaluate the prediction power of Her2-expressing (Her2E) circulating tumor cells (CTCs) after analyzing over 13,000 CTCs from a cohort of 137 metastatic breast cancer (MBC) patients with initial HR+/Her2− status and employ preclinical models of bone metastasis (BM) to validate the role of Her2E CTCs in multi-organ metastases. While Her2 expression was higher in patients with bone metastasis, experimental analyses revealed that Her2E CTCs derived from bone lesions were more dependent on Her2 …
Assessment Of Cognitive Domains In Major Depressive Disorders Using The Cambridge Neuropsychological Test Automated Battery (Cantab): Systematic Review And Meta-Analysis Of Cross-Sectional And Longitudinal Studies, Danilo Arnone, Reshma Ramaraj, Linda Östlundh, Teresa Arora, Syed Javaid, Romona Devi Govender, Emmanuel Stip, Allan H. Young
Assessment Of Cognitive Domains In Major Depressive Disorders Using The Cambridge Neuropsychological Test Automated Battery (Cantab): Systematic Review And Meta-Analysis Of Cross-Sectional And Longitudinal Studies, Danilo Arnone, Reshma Ramaraj, Linda Östlundh, Teresa Arora, Syed Javaid, Romona Devi Govender, Emmanuel Stip, Allan H. Young
All Works
Cognitive difficulties are known to persist after remission of symptoms and to affect psychosocial functioning and quality of life. Cognitive function, measured with the Cambridge Neuro-psychological Test Automated Battery (CANTAB), is a reliable approach to measure cognitive function in major depression. This systematic review and meta-analysis appraise cross-sectional and longitudinal studies that used specific CANTAB tests to measure cognitive function in major depression and the effect of treatment (PROSPERO ID: CRD42022355903). 1212 studies were identified and 41 were included, 1793 patients and 1445 healthy controls. Deficits in executive functions were detected with the Stocking Of Cambridge (SOC) ‘number of problems …
Unraveling The Complexities Of Myeloid-Derived Suppressor Cells In Inflammatory Bowel Disease, Yangzhuangzhuang Zhu, Siyan Cao
Unraveling The Complexities Of Myeloid-Derived Suppressor Cells In Inflammatory Bowel Disease, Yangzhuangzhuang Zhu, Siyan Cao
2020-Current year OA Pubs
Myeloid-derived suppressor cells (MDSCs) regulate immune responses in many pathological conditions, one of which is inflammatory bowel disease (IBD), an incurable chronic disorder of the digestive tract and beyond. The pathophysiology of IBD remains unclear, likely involving aberrant innate and adaptive immunity. Studies have reported altered population of MDSCs in patients with IBD. However, their distribution varies among patients and different preclinical models of IBD. The expansion and activation of MDSCs are likely driven by various stimuli during intestinal inflammation, but the in-depth mechanisms remain poorly understood. The role of MDSCs in the pathogenesis of IBD appears to be paradoxical. …
Methylome-Wide Association Analyses Of Lipids And Modifying Effects Of Behavioral Factors In Diverse Race And Ethnicity Participants, Eric A Whitsel, Mindy Szeto, Laura M Raffield, Scott Ratliff, Yuxuan Wang, Xuzhi Wang, Alison E Fohner, Megan T Lynch, Yesha M Patel, S Lani Park, Huichun Xu, Braxton D Mitchell, Joshua C Bis, Nona Sotoodehnia, Jennifer A Brody, Bruce M Psaty, Gina M Peloso, Michael Y Tsai, Stephen S Rich, Jerome I Rotter, Jennifer A Smith, Sharon L R Kardia, Alex P Reiner, Leslie Lange, Myriam Fornage, James S Pankow, Mariaelisa Graff, Kari E North, Charles Kooperberg, Ulrike Peters
Methylome-Wide Association Analyses Of Lipids And Modifying Effects Of Behavioral Factors In Diverse Race And Ethnicity Participants, Eric A Whitsel, Mindy Szeto, Laura M Raffield, Scott Ratliff, Yuxuan Wang, Xuzhi Wang, Alison E Fohner, Megan T Lynch, Yesha M Patel, S Lani Park, Huichun Xu, Braxton D Mitchell, Joshua C Bis, Nona Sotoodehnia, Jennifer A Brody, Bruce M Psaty, Gina M Peloso, Michael Y Tsai, Stephen S Rich, Jerome I Rotter, Jennifer A Smith, Sharon L R Kardia, Alex P Reiner, Leslie Lange, Myriam Fornage, James S Pankow, Mariaelisa Graff, Kari E North, Charles Kooperberg, Ulrike Peters
Faculty, Staff and Student Publications
Circulating lipid concentrations are clinically associated with cardiometabolic diseases. The phenotypic variance explained by identified genetic variants remains limited, highlighting the importance of searching for additional factors beyond genetic sequence variants. DNA methylation has been linked to lipid concentrations in previous studies, although most of the studies harbored moderate sample sizes and exhibited underrepresentation of non-European ancestry populations. In addition, knowledge of nongenetic factors on lipid profiles is extremely limited. In the Population Architecture Using Genomics and Epidemiology (PAGE) Study, we performed methylome-wide association analysis on 9,561 participants from diverse race and ethnicity backgrounds for HDL-c, LDL-c, TC, and TG …