Digital Commons Network^™

Gene-By-Gene Interactions Associated With The Risk Of Conotruncal Heart Defects, Chen Lyu, Daniel M Webber, Stewart L Macleod, Charlotte A Hobbs, Ming Li, National Birth Defects Prevention Study

Open Access Publications

BACKGROUND: The development of conotruncal heart defects (CTDs) involves a complex relationship among genetic variants and maternal lifestyle factors. In this article, we focused on the interactions between 13 candidate genes within folate, homocysteine, and transsulfuration pathways for potential association with CTD risk.

METHODS: Targeted sequencing was used for 328 case-parental triads enrolled in the National Birth Defects Prevention Study (NBDPS). To evaluate the interaction of two genes, we applied a conditional logistic regression model for all possible SNP pairs within two respective genes by contrasting the affected infants with their pseudo-controls. The findings were replicated in an independent sample …

Mouse Genetics Identifies Unique And Overlapping Functions Of Fibroblast Growth Factor Receptors In Keratinocytes, Michael Meyer, Maya Ben-Yehuda Greenwald, Theresa Rauschendorfer, Catharina Sänger, Marko Jukic, Haruka Iizuka, Fumimasa Kubo, Lin Chen, David M Ornitz, Sabine Werner

Open Access Publications

Fibroblast growth factors (FGFs) are key regulators of tissue development, homeostasis and repair, and abnormal FGF signalling is associated with various human diseases. In human and murine epidermis, FGF receptor 3 (FGFR3) activation causes benign skin tumours, but the consequences of FGFR3 deficiency in this tissue have not been determined. Here, we show that FGFR3 in keratinocytes is dispensable for mouse skin development, homeostasis and wound repair. However, the defect in the epidermal barrier and the resulting inflammatory skin disease that develops in mice lacking FGFR1 and FGFR2 in keratinocytes were further aggravated upon additional loss of FGFR3. This caused …

Targeting Cd47 As A Novel Immunotherapy For Multiple Myeloma, Jennifer Sun, Barbara Muz, Kinan Alhallak, Matea Markovic, Shannon Gurley, Zhe Wang, Nicole Guenthner, Katherine Wasden, Mark Fiala, Justin King, Daniel Kohnen, Noha Nabil Salama, Ravi Vij, Abdel Kareem Azab

Open Access Publications

Multiple myeloma (MM) remains to be incurable despite recent therapeutic advances. CD47, an immune checkpoint known as the "don't eat me" signal, is highly expressed on the surface of various cancers, allowing cancer cells to send inhibitory signals to macrophages and impede phagocytosis and immune response. In this study, we hypothesized that blocking the "don't eat me" signaling using an anti-CD47 monoclonal antibody will induce killing of MM cells. We report that CD47 expression was directly correlated with stage of the disease, from normal to MGUS to MM. Moreover, MM cells had remarkably higher CD47 expression than other cell populations …

Roles Of Reconstituted High-Density Lipoprotein Nanoparticles In Cardiovascular Disease: A New Paradigm For Drug Discovery, Jiansheng Huang, Dongdong Wang, Li-Hao Huang, Hui Huang

Open Access Publications

Epidemiological results revealed that there is an inverse correlation between high-density lipoprotein (HDL) cholesterol levels and risks of atherosclerotic cardiovascular disease (ASCVD). Mounting evidence supports that HDLs are atheroprotective, therefore, many therapeutic approaches have been developed to increase HDL cholesterol (HDL-C) levels. Nevertheless, HDL-raising therapies, such as cholesteryl ester transfer protein (CETP) inhibitors, failed to ameliorate cardiovascular outcomes in clinical trials, thereby casting doubt on the treatment of cardiovascular disease (CVD) by increasing HDL-C levels. Therefore, HDL-targeted interventional studies were shifted to increasing the number of HDL particles capable of promoting ATP-binding cassette transporter A1 (ABCA1)-mediated cholesterol efflux. One such …

Necrotizing Soft Tissue Infections: A Focused Review Of Pathophysiology, Diagnosis, Operative Management, Antimicrobial Therapy, And Pediatrics, Jeffrey M. Tessier, James Sanders, Massimo Sartelli, Jan Ulrych, Belinda De Simone, Julia Grabowski, Sara Buckman, Therese M. Duane

Open Access Publications

No abstract provided.

Melanin Deposition In Two Cryptococcus Species Depends On Cell-Wall Composition And Flexibility, Christine Chrissian, Emma Comacho, Man Shun Fu, Rafael Prados-Rosales, Subhasish Chatterjee, Radames J.B. Cordero, Jennifer K. Lodge, Arturo Casadevall, Ruth E. Stark

Open Access Publications

No abstract provided.

Mechanical Stimuli Affect Escherichia Coli Heat-Stable Enterotoxin-Cyclic Gmp Signaling In A Human Enteroid Intestine-Chip Model, Laxmi Sunuwar, Jianyi Yin, Magdalena Kasendra, Katia Karalis, James Kaper, James Fleckenstein, Mark Donowitz

Open Access Publications

No abstract provided.

Identifying Determinants Of Bacterial Fitness In A Model Of Human Gut Microbial Succession, Lihui Feng, Arjun S. Raman, Matthew C. Hibberd, Jiye Cheng, Nicholas W. Griffin, Yangqing Peng, Semen A. Leyn, Dmitry A. Rodionov, Andrei L. Osterman, Jeffrey I. Gordon

Open Access Publications

No abstract provided.

Uterine Natural Killer Cell Heterogeneity: Lessons From Mouse Models, Dorothy K Sojka

Open Access Publications

Natural killer (NK) cells are the most abundant lymphocytes at the maternal-fetal interface. Epidemiological data implicate NK cells in human pregnancy outcomes. Discoveries using mouse NK cells have guided subsequent advances in human NK cell biology. However, it remains challenging to identify mouse and human uterine NK (uNK) cell function(s) because of the dynamic changes in the systemic-endocrinological and local uterine structural microenvironments during pregnancy. This review discusses functional similarities and differences between mouse and human NK cells at the maternal-fetal interface.

The Mycl And Mxd1 Transcription Factors Regulate The Fitness Of Murine Dendritic Cells, David A. Anderson Iii, Theresa L. Murphy, Robert N. Eisenman, Kenneth M. Murphy

Open Access Publications

No abstract provided.

Real-Time Colorectal Cancer Diagnosis Using Pr-Oct With Deep Learning, Yifeng Zeng, Shiqi Xu, William C. Chapman Jr., Shuying Li, Zahra Alipour, Heba Abdelal, Deyali Chatterjee, Matthew Mutch, Quing Zhu

Open Access Publications

No abstract provided.

Intracranial Glioma Xenograft Model Rapidly Reestablishes Blood–Brain Barrier Integrity For Longitudinal Imaging Of Tumor Progression Using Fluorescence Molecular Tomography And Contrast Agents, Lemoyne Habimana-Griffin, Dezhuang Ye, Julia Carpenter, Julie Prior, Gail Sudlow, Lynne Marsala, Matthew Mixdorf, Joshua B. Rubin, Hong Chen, Samuel Achilefu

Open Access Publications

No abstract provided.

Deciphering The Factors That Influence Participation In Studies Requiring Serial Lumbar Punctures, Gregory S Day, Tracy Rappai, Sushila Sathyan, John C Morris

Open Access Publications

Introduction: Cerebrospinal fluid biomarkers increasingly inform the causes of dementia and may provide objective markers of disease progression. There is a need to decipher participant and procedural factors that promote participation in studies incorporating longitudinal biomarker measures.

Methods: Participant and procedural factors associated with participation in longitudinal biomarker studies were determined in individuals enrolled in studies of memory and aging at the Knight Alzheimer Disease Research Center (Saint Louis, MO, USA).

Results: Complications were encountered following 331 of 1484 lumbar punctures (22.3%; LPs), affecting 280 of 929 participants (30.1%); in >95% complications were minor. Three hundred fifteen of 679 eligible …

Carpal Tunnel Syndrome Among Male French Farmers And Agricultural Workers: Is It Only Associated With Physical Exposure?, Yves Roquelaure, Sylvaine Jégo, Béatrice Geoffroy-Perez, Emilie Chazelle, Alexis Descatha, Bradley Evanoff, Ronan Garlantézec, Julie Bodin

Open Access Publications

No abstract provided.

Strong Concordance Between Rna Structural And Single Nucleotide Variants Identified Via Next Generation Sequencing Techniques In Primary Pediatric Leukemia And Patient-Derived Xenograft Samples, Sonali P. Barwe, Anilkumar Gopalakrisnapillai, Nitin Mahajan, Todd E. Druley, E. Anders Kolb, Erin L. Crowgey

Open Access Publications

No abstract provided.

Mycn Amplification And Atrx Mutations Are Incompatible In Neuroblastoma, Maged Zeineldin, Xiang Chen, Michael A. Dyer

Open Access Publications

No abstract provided.

Diabetes Minimally Mediated The Association Between Pm2.5 Air Pollution And Kidney Outcomes, Benjamin Bowe, Yan Xie, Yan Yan, Hong Xian, Ziyad Al-Aly

Open Access Publications

No abstract provided.

Pharmacological Inhibition Of Ataxia-Telangiectasia Mutated Exacerbates Acute Kidney Injury By Activating P53 Signaling In Mice, Masahiro Uehara, Tetsuro Kusaba, Tomoharu Ida, Kunihiro Nakai, Tomohiro Nakata, Aya Tomita, Noriko Watanabe-Uehara, Kisho Ikeda, Takashi Kitani, Noriyuki Yamashita, Yuhei Kirita, Satoaki Matoba, Benjamin D. Humphreys, Keiichi Tamagaki

Open Access Publications

No abstract provided.

Metabolic And Addiction Indices In Patients On Opioid Agonist Medication-Assisted Treatment: A Comparison Of Buprenorphine And Methadone, Igor Elman, Margaret Howard, Jacob T. Borodovsky, David Mysels, David Rott, David Borsook, Mark Albanese

Open Access Publications

No abstract provided.

Cns Microrna Profles: A Database For Cell Type Enriched Microrna Expression Across The Mouse Central Nervous System, Nathan Pomper, Yating Liu, Mariah L. Hoye, Joseph D. Dougherty, Timothy M. Miller

Open Access Publications

No abstract provided.

Anti-Angiogenic Effects Of Vegf Stimulation On Endothelium Deficient In Phosphoinositide Recycling, Amber N. Stratman, Olivia M. Farrelly, Constantinos M. Mikelis, Mayumi F. Miller, Zhiyong Wang, Van N. Pham, Andrew E. Davis, Margaret C. Burns, Sofia A. Pezoa, Daniel Castranova, Joseph J. Yano, Tina M. Kilts, George E. Davis, J. Silvio Gutkind, Brant M. Weinstein

Open Access Publications

No abstract provided.

Activity-Dependent Isomerization Of Kv4.2 By Pin1 Regulates Cognitive Flexibility, Jia-Hua Hu, Cole Malloy, G. Travis Tabor, Jakob J. Gutzmann, Ying Liu, Daniel Abebe, Rose-Marie Karlsson, Stewart Durell, Heather A. Cameron, Dax A. Hoffman

Open Access Publications

No abstract provided.

Exploration Of Sensory And Spinal Neurons Expressing Gastrin-Releasing Peptide In Itch And Pain Related Behaviors, Devin M. Barry, Xue-Ting Liu, Benlong Liu, Xian-Yu Liu, Fang Gao, Xiansi Zeng, Juan Liu, Qianyi Yang, Steven Wilhelm, Jun Yin, Ailin Tao, Zhou-Feng Chen

Open Access Publications

No abstract provided.

Monitoring The Itinerary Of Lysosomal Cholesterol In Niemann-Pick Type C1-Deficient Cells After Cyclodextrin Treatment, Mckenna Feltes, Sarah E. Gale, Samantha Moores, Daniel S. Ory, Jean E. Schaffer

Open Access Publications

No abstract provided.

Environmental Remodeling Of Human Gut Microbiota And Antibiotic Resistome In Livestock Farms, Jian Sun, Alaric W. D'Souza, Manish Boolchandani, Gautam Dantas, Et Al.

Open Access Publications

No abstract provided.

Reporting Guidelines, Review Of Methodological Standards, And Challenges Toward Harmonization In Bone Marrow Adiposity Research. Report Of The Methodologies Working Group Of The International Bone Marrow Adiposity Society, Josefine Tratwal, Erica L Scheller, Et Al

Open Access Publications

The interest in bone marrow adiposity (BMA) has increased over the last decade due to its association with, and potential role, in a range of diseases (osteoporosis, diabetes, anorexia, cancer) as well as treatments (corticosteroid, radiation, chemotherapy, thiazolidinediones). However, to advance the field of BMA research, standardization of methods is desirable to increase comparability of study outcomes and foster collaboration. Therefore, at the 2017 annual BMA meeting, the International Bone Marrow Adiposity Society (BMAS) founded a working group to evaluate methodologies in BMA research. All BMAS members could volunteer to participate. The working group members, who are all active preclinical …

Phase 1–2 Trial Of Antisense Oligonucleotide Tofersen For Sod1 Als, Timothy Miller, Robert C. Bucelli, Alan Pestronk, Et Al.

Open Access Publications

No abstract provided.

Androgen-Influenced Polarization Of Activin A-Producing Macrophages Accompanies Post-Pyelonephritic Renal Scarring, Teri N. Hreha, Christina A. Collins, Allyssa L. Daugherty, Jessie M. Griffith, Keith A. Hruska, David A. Hunstad

Open Access Publications

No abstract provided.

Targeting Unconventional Host Components For Vaccination-Induced Protection Against Tb, Elisa Nemes, Shabaana A Khader, Rosemary V Swanson, Willem A Hanekom

Open Access Publications

The current tuberculosis (TB) vaccine, Bacille Calmette-Guerin (BCG), is effective in preventing TB in young children but was developed without a basic understanding of human immunology. Most modern TB vaccine candidates have targeted CD4

Mitofusin 2 Dysfunction And Disease In Mice And Men, Gerald W Dorn Ii

Open Access Publications

A causal relationship between Mitofusin (MFN) 2 gene mutations and the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2A (CMT2A) was described over 15 years ago. During the intervening period much has been learned about MFN2 functioning in mitochondrial fusion, calcium signaling, and quality control, and the consequences of these MFN2 activities on cell metabolism, fitness, and development. Nevertheless, the challenge of defining the central underlying mechanism(s) linking mitochondrial abnormalities to progressive dying-back of peripheral arm and leg nerves in CMT2A is largely unmet. Here, a different perspective of why, in humans, MFN2 dysfunction preferentially impacts peripheral nerves is provided based …