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Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.

Eur J Hum Genet 2021 Jun 21. Epub 2021 Jun 21.

Department of Clinical Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.

Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. Read More

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TBX20 Contributes to Balancing the Differentiation of Perivascular Adipose-Derived Stem Cells to Vascular Lineages and Neointimal Hyperplasia.

Front Cell Dev Biol 2021 2;9:662704. Epub 2021 Jun 2.

Department of Cardiology, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China.

Background: Perivascular adipose-derived stem cells (PVASCs) can contribute to vascular remodeling, which are also capable of differentiating into multiple cell lineages. The present study aims to investigate the mechanism of PVASC differentiation toward smooth muscle cells (SMCs) and endothelial cells (ECs) as well as its function in neointimal hyperplasia.

Methods: Single-cell sequencing and bulk mRNA sequencing were applied for searching key genes in PVASC regarding its role in vascular remodeling. Read More

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Morphological characterization of Etv2 explants using fractal analysis and atomic force microscopy.

Microvasc Res 2021 Jun 16:104205. Epub 2021 Jun 16.

Bioengineering Program, DeMatteis School of Engineering and Applied Science, Hofstra University, Hempstead, NY, USA; Division of Regenerative Medicine, Ansary Stem Cell Institute, Department of Medicine, Weill Cornell Medicine, New York, NY, USA. Electronic address:

The rapid engraftment of vascular networks is critical for functional incorporation of tissue explants. However, existing methods for inducing angiogenesis utilize approaches that yield vasculature with poor temporal stability or inadequate mechanical integrity, which reduce their robustness in vivo. The transcription factor Ets variant 2 (Etv2) specifies embryonic hematopoietic and vascular endothelial cell (EC) development, and is transiently reactivated during postnatal vascular regeneration and tumor angiogenesis. Read More

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Evolutionary Protection of Krüppel-Like Factors 2 and 4 in the Development of the Mature Hemovascular System.

Front Cardiovasc Med 2021 17;8:645719. Epub 2021 May 17.

Case Cardiovascular Research Institute, Case Western Reserve University, Cleveland, OH, United States.

A properly functioning hemovascular system, consisting of circulating innate immune cells and endothelial cells (ECs), is essential in the distribution of nutrients to distant tissues while ensuring protection from invading pathogens. Professional phagocytes (e.g. Read More

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Neutralizing interferon-α blocks inflammation-mediated vascular injury via PI3K and AMPK in systemic lupus erythematosus.

Immunology 2021 Jun 2. Epub 2021 Jun 2.

Institute of Pediatrics, The Second Xiangya Hospital, Central South University, Changsha, China.

Plasmacytoid dendritic cells (pDCs) play a key role in the initiation and amplification of systemic lupus erythematosus (SLE)-associated vascular injury. In this study, we found that dsDNA induced dose- and time-dependent increase in IFN-α and Toll-like receptor 7 (TLR7), TLR9 and IRF7 expression in pDCs. Co-cultured circulating endothelial cells (ECs) with activated pDCs significantly decreased proliferation, tube formation and migration in ECs. Read More

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Altered endocannabinoid-dynamics in craniopharyngioma patients and their association with HPA-axis disturbances.

Eur J Endocrinol 2021 Jun 1. Epub 2021 Jun 1.

J Fuss, Human Behavior Laboratory, University Hospital Hamburg Eppendorf Institute for Sex Research and Forensic Psychiatry, Hamburg, Germany.

Objective Patients with craniopharyngioma (CP) frequently suffer from morbid obesity. Endocannabinoids (ECs) are involved in weight gain and rewarding behavior but have not been investigated in this context. Design Cross-sectional single-center study. Read More

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Social Experience Regulates Endocannabinoids Modulation of Zebrafish Motor Behaviors.

Front Behav Neurosci 2021 11;15:668589. Epub 2021 May 11.

Department of Biology, East Carolina University, Greenville, NC, United States.

Social status-dependent modulation of neural circuits has been investigated extensively in vertebrate and invertebrate systems. However, the effects of social status on neuromodulatory systems that drive motor activity are poorly understood. Zebrafish form a stable social relationship that consists of socially dominant and subordinate animals. Read More

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Taxed and untaxed beverage intake by South African young adults after a national sugar-sweetened beverage tax: A before-and-after study.

PLoS Med 2021 May 25;18(5):e1003574. Epub 2021 May 25.

Faculty of Community and Health Sciences, University of the Western Cape, Bellville, South Africa.

Background: In an effort to prevent and reduce the prevalence rate of people with obesity and diabetes, South Africa implemented a sugar-content-based tax called the Health Promotion Levy in April 2018, one of the first sugar-sweetened beverage (SSB) taxes to be based on each gram of sugar (beyond 4 g/100 ml). This before-and-after study estimated changes in taxed and untaxed beverage intake 1 year after the tax, examining separately, to our knowledge for the first time, the role of reformulation distinct from behavioral changes in SSB intake.

Methods And Findings: We collected single-day 24-hour dietary recalls from repeat cross-sectional surveys of adults aged 18-39 years in Langa, South Africa. Read More

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Reduced Synaptic Plasticity Contributes to Resistance Against Constant-Stimulus Electroconvulsive Treatment in a Rat Model of Stress-Induced Depression.

Neuropsychiatr Dis Treat 2021 11;17:1433-1442. Epub 2021 May 11.

Department of Anesthesiology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, People's Republic of China.

Purpose: Depression is a common mood disorder in humans worldwide. Electroconvulsive therapy (ECT) remains the most effective treatment for patients with drug-resistant or severe depression; however, during ECT, electrical resistance can occur, antagonizing ECT efficacy. We aimed to investigate how depressed patients develop resistance to electric shocks during ECT. Read More

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Alkaline phosphatase activity during a phosphate replete dinoflagellate bloom caused by Prorocentrum obtusidens.

Harmful Algae 2021 03 29;103:101979. Epub 2021 Jan 29.

Research Center of Harmful Algae and Marine Biology, and Key Laboratory of Eutrophication and Red Tide Prevention of Guangdong Higher Education Institutes, Jinan University, Guangzhou, China.

Prorocentrum obtusidens Schiller (formerly P. donghaiense Lu), a harmful algal species common in the East China Sea (ECS), often thrives with the depletion of phosphate. Three cruises in the spring of 2013 sampled an entire P. Read More

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Acute effects of graduated and progressive compression stockings on leg vein cross-sectional area and viscoelasticity in patients with chronic venous disease.

J Vasc Surg Venous Lymphat Disord 2021 May 5. Epub 2021 May 5.

Vascular Medicine, Montpellier University Hospital, France; EA2992, Montpellier University, France.

Objective: To determine the effects of graduated and progressive elastic compression stockings (ECS) on postural diameter changes and viscoelasticity of leg veins in healthy controls and in limbs with chronic venous disease (CVD).

Methods: In 57 patients whose legs presented with C, C, or C CEAP classes of CVD and treated primarily with compression, and 54 healthy controls matched for age and body mass index, we recorded interface pressures at 9 reference leg levels. Cross-sectional areas of the small saphenous vein (SSV) and a deep calf vein (DCV) were measured with B-mode ultrasound with subjects supine and standing, recording the force (PF) applied on the ultrasound probe to collapse each vein with progressive ECS, and with and without graduated 15‒20 mmHg and 20‒36 mmHg elastic stockings. Read More

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Mechanoresponsive Smad5 Enhances MiR-487a Processing to Promote Vascular Endothelial Proliferation in Response to Disturbed Flow.

Front Cell Dev Biol 2021 20;9:647714. Epub 2021 Apr 20.

Institute of Cellular and System Medicine, National Health Research Institutes, Miaoli, Taiwan.

MicroRNAs (miRs) and bone morphogenetic protein receptor-specific Smads are mechano-responsive molecules that play vital roles in modulating endothelial cell (EC) functions in response to blood flow. However, the roles of interplay between these molecules in modulating EC functions under flows remain unclear. We elucidated the regulatory roles of the interplay between miR-487a and Smad5 in EC proliferation in response to different flow patterns. Read More

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Cannabis alters epigenetic integrity and endocannabinoid signalling in the human follicular niche.

Hum Reprod 2021 Jun;36(7):1922-1931

CReATe Fertility Centre, Toronto, ON, Canada.

Study Question: Do phytocannabinoids (PCs) affect follicular endocannabinoid signalling and the epigenome in the surrounding granulosa cells (GCs)?

Summary Answer: Exposure to PCs increases the expression of endocannabinoid receptors and reduces DNA methylation enzyme expression and global DNA methylation in naïve GCs.

What Is Known Already: Cannabis plant derivatives, known as PCs, are used for medicinal and recreational purposes. The main PC, tetrahydrocannabinol (THC), is the third most commonly used substance by women of childbearing age, hence knowledge of the effect it has on reproduction is of utmost importance. Read More

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Age-Dependent Dysregulation of Muscle Vasculature and Blood Flow Recovery after Hindlimb Ischemia in the Model of Duchenne Muscular Dystrophy.

Biomedicines 2021 Apr 27;9(5). Epub 2021 Apr 27.

Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, Jagiellonian University, 30-387 Kraków, Poland.

Duchenne muscular dystrophy (DMD), caused by a lack of functional dystrophin, is characterized by progressive muscle degeneration. Interestingly, dystrophin is also expressed in endothelial cells (ECs), and insufficient angiogenesis has already been hypothesized to contribute to DMD pathology, however, its status in mice, a model of DMD, is still not fully clear. Our study aimed to reveal angiogenesis-related alterations in skeletal muscles of mice compared to wild-type (WT) counterparts. Read More

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High-risk endometrial cancer proteomic profiling reveals that FBXW7 mutation alters L1CAM and TGM2 protein levels.

Cancer 2021 Apr 19. Epub 2021 Apr 19.

Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Background: FBXW7 is frequently somatically mutated in grade 3 endometrioid endometrial cancers (G3EECs) and serous endometrial cancers (SECs), which are high-risk cancers associated with poor outcomes and in need of novel treatment options. The aim of this study was to determine the proteomic effects of 3 FBXW7 mutations in high-risk endometrial cancers (ECs).

Methods: Clustered regularly interspaced short palindromic repeats (CRISPR) editing was used to generate 3 HEC-50B G3EEC derivative cell lines, each of which harbored 1 FBXW7 mutation, and to revert an endogenous FBXW7 mutation in HEC-1-B grade 2 endometrioid endometrial cancer (G2EEC) cells to the wild-type genotype. Read More

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Cannabidiol modulates the METH-induced conditioned place preference through D2-like dopamine receptors in the hippocampal CA1 region.

Brain Res Bull 2021 Jul 16;172:43-51. Epub 2021 Apr 16.

Neuroscience Research Center, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

The main problem with addiction is a relapse with a high rate in methamphetamine (METH) abusers. Using addictive drugs repetitively will cause the reward. METH reward is due to an increase in dopamine levels, and the endocannabinoid system (ECS) has a modulatory role in reward through CB1 receptors. Read More

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Delta-like 4 is required for pulmonary vascular arborization and alveolarization in the developing lung.

JCI Insight 2021 Apr 8;6(7). Epub 2021 Apr 8.

Division of Neonatology, Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA.

The molecular mechanisms by which endothelial cells (ECs) regulate pulmonary vascularization and contribute to alveolar epithelial cell development during lung morphogenesis remain unknown. We tested the hypothesis that delta-like 4 (DLL4), an EC Notch ligand, is critical for alveolarization by combining lung mapping and functional studies in human tissue and DLL4-haploinsufficient mice (Dll4+/lacz). DLL4 expressed in a PECAM-restricted manner in capillaries, arteries, and the alveolar septum from the canalicular to alveolar stage in mice and humans. Read More

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MMP-9 Knockdown Inhibits Oral Squamous Cell Carcinoma Lymph Node Metastasis in the Nude Mouse Tongue-Xenografted Model through the RhoC/Src Pathway.

Anal Cell Pathol (Amst) 2021 19;2021:6683391. Epub 2021 Mar 19.

Beijing Institute of Dental Research, Beijing Stomatological Hospital & School of Stomatology, Capital Medical University, Beijing, China.

Oral squamous cell carcinoma (OSCC) is one of the most common types of cancers in developing countries. A major contributor to the high mortality rate of OSCC is the tendency of oral cancer cells to metastasize to lymph nodes around the head and neck during the early stages of cancer development. Matrix metalloproteinase 9 (MMP-9), an endopeptidase, can degrade the extracellular matrix and basement membrane and plays a key role in tumor invasion and metastasis. Read More

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Bacterial Dimethylsulfoniopropionate Biosynthesis in the East China Sea.

Microorganisms 2021 Mar 22;9(3). Epub 2021 Mar 22.

College of Marine Life Sciences, Ocean University of China, 5 Yushan Road, Qingdao 266003, China.

Dimethylsulfoniopropionate (DMSP) is one of Earth's most abundant organosulfur molecules. Recently, many marine heterotrophic bacteria were shown to produce DMSP, but few studies have combined culture-dependent and independent techniques to study their abundance, distribution, diversity and activity in seawater or sediment environments. Here we investigate bacterial DMSP production potential in East China Sea (ECS) samples. Read More

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Cryoprecipitate attenuates the endotheliopathy of trauma in mice subjected to hemorrhagic shock and trauma.

J Trauma Acute Care Surg 2021 Jun;90(6):1022-1031

From the Department of Surgery (M.B., D.S.) and Department of Laboratory Medicine (A.T., B.Y.M., L.R.V., M.K., H.Z., P.P., S.P.), University of California, San Francisco; Cerus Corporation (A.B., M.G.G.), Concord, California; and Shock Trauma Center (R.K.), University of Maryland School of Medicine, Baltimore, Maryland.

Background: Plasma has been shown to mitigate the endotheliopathy of trauma. Protection of the endothelium may be due in part to fibrinogen and other plasma-derived proteins found in cryoprecipitate; however, the exact mechanisms remain unknown. Clinical trials are underway investigating early cryoprecipitate administration in trauma. Read More

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Effect of Rosolic acid on endothelial dysfunction under ER stress in pancreatic microenvironment.

Free Radic Res 2021 Mar 31:1-16. Epub 2021 Mar 31.

SRM Research Institute and Department of Biotechnology, School of Bioengineering, SRM Institute of Science and Technology, Kattankulathur, India.

Endothelial cell (EC) dysfunction is the underlying cause for the development of several pathologies, and the interdependency between the pancreatic β-cells and ECs has been established in the pathophysiology of diabetes. ECs release several factors that govern the expression of genes involved in the proliferation, physiology, and survival of the β-cells. Of the known factors that collapse this intricately balanced system, endothelial dysfunction is the crucial condition that manifests as the causative factor for micro and macrovascular diseases. Read More

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Ethics Consultation in U.S. Hospitals: A National Follow-Up Study.

Am J Bioeth 2021 Mar 26:1-14. Epub 2021 Mar 26.

Altarum Institute.

A 1999-2000 national study of U.S. hospitals raised concerns about ethics consultation (EC) practices and catalyzed improvement efforts. Read More

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Mediterranean diet consumption affects the endocannabinoid system in overweight and obese subjects: possible links with gut microbiome, insulin resistance and inflammation.

Eur J Nutr 2021 Mar 24. Epub 2021 Mar 24.

Department of Agricultural Sciences, University of Naples Federico II, Parco Gussone Ed. 84, 80055, Portici, NA), Italy.

Purpose: To investigate whether a Mediterranean diet (MD) affected the plasma concentrations of endocannabinoids (ECs), N-acylethanolamines (NAEs) and their specific ratios in subjects with lifestyle risk factors for metabolic diseases. To identify the relationship between circulating levels of these compounds and gut microbiome, insulin resistance and systemic inflammation.

Methods: A parallel 8-week randomised controlled trial was performed involving 82 overweight and obese subjects aged (mean ± SEM) 43 ± 1. Read More

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Feedback regulation of coronary artery disease susceptibility gene ADTRP and LDL receptors LDLR/CD36/LOX-1 in endothelia cell functions involved in atherosclerosis.

Biochim Biophys Acta Mol Basis Dis 2021 Jul 18;1867(7):166130. Epub 2021 Mar 18.

Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Cardio-X Institute, Huazhong University of Science and Technology, Wuhan 430074, Hubei, PR China. Electronic address:

A high level of low-density lipoprotein cholesterol (LDL) is one of the most important risk factors for coronary artery disease (CAD), the leading cause of death worldwide. However, a low concentration of LDL may be protective. Genome-wide association studies revealed that variation in ADTRP gene increased the risk of CAD. Read More

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Angiotensin II-induced upregulation of SGLT1 and 2 contributes to human microparticle-stimulated endothelial senescence and dysfunction: protective effect of gliflozins.

Cardiovasc Diabetol 2021 03 16;20(1):65. Epub 2021 Mar 16.

Regenerative Nanomedicine, Faculty of Pharmacy, UMR 1260, INSERM (French National Institute of Health and Medical Research), University of Strasbourg, 67000, Strasbourg, France.

Background: Sodium-glucose cotransporter 2 (SGLT2) inhibitors reduced cardiovascular risk in type 2 diabetes patients independently of glycemic control. Although angiotensin II (Ang II) and blood-derived microparticles are major mediators of cardiovascular disease, their impact on SGLT1 and 2 expression and function in endothelial cells (ECs) and isolated arteries remains unclear.

Methods: ECs were isolated from porcine coronary arteries, and arterial segments from rats. Read More

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Mitoferrin 2 deficiency prevents mitochondrial iron overload-induced endothelial injury and alleviates atherosclerosis.

Exp Cell Res 2021 May 9;402(1):112552. Epub 2021 Mar 9.

Department of Cardiology, Nanjing First Hospital, Nanjing Medical University, Nanjing, China. Electronic address:

Endothelial dysfunction is an early step in the development of atherosclerotic cardiovascular disease. Iron overload can lead to excessive mitochondrial reactive oxygen species (mtROS) production, resulting in mitochondrial dysfunction and vascular endothelial cell (EC) damage. Mitoferrin 2 (Mfrn2) is an iron transporter in the inner mitochondrial membrane. Read More

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Simvastatin inhibits POVPC-mediated induction of endothelial-to-mesenchymal cell transition.

J Lipid Res 2021 Mar 10;62:100066. Epub 2021 Mar 10.

National-Guangdong Joint Engineering Laboratory for Diagnosis and Treatment of Vascular Diseases, Guangzhou, People's Republic of China; NHC key Laboratory of Assisted Circulation (Sun Yat-sen University), Guangzhou, People's Republic of China; Guangdong Provincial Engineering and Technology Center for Diagnosis and Treatment of Vascular Diseases, Guangzhou, People's Republic of China; Division of Hypertension and Vascular Diseases, Department of Cardiology, Heart Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, People's Republic of China. Electronic address:

Endothelial-to-mesenchymal transition (EndMT), the process by which an endothelial cell (EC) undergoes a series of molecular events that result in a mesenchymal cell phenotype, plays an important role in atherosclerosis. 1-Palmitoyl-2-(5-oxovaleroyl)-sn-glycero-3-phosphocholine (POVPC), derived from the oxidation of 1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphatidylcholine, is a proinflammatory lipid found in atherosclerotic lesions. Whether POVPC promotes EndMT and how simvastatin influences POVPC-mediated EndMT remains unclear. Read More

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Establishment of an in vitro safety assessment model for lipid-lowering drugs using same-origin human pluripotent stem cell-derived cardiomyocytes and endothelial cells.

Acta Pharmacol Sin 2021 Mar 8. Epub 2021 Mar 8.

Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Medical College, Soochow University, Suzhou, 215000, China.

Cardiovascular safety assessment is vital for drug development, yet human cardiovascular cell models are lacking. In vitro mass-generated human pluripotent stem cell (hPSC)-derived cardiovascular cells are a suitable cell model for preclinical cardiovascular safety evaluations. In this study, we established a preclinical toxicology model using same-origin hPSC-differentiated cardiomyocytes (hPSC-CMs) and endothelial cells (hPSC-ECs). Read More

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Long non-coding RNA NEAT1 regulates endothelial functions in subclinical hypothyroidism through miR-126/TRAF7 pathway.

Hum Cell 2021 May 7;34(3):825-835. Epub 2021 Mar 7.

Department of Endocrinology, Second Affiliated Hospital of Shandong First Medical University, No. 706 of Taishan Street, Tai'an, 271000, Shandong Province, China.

Subclinical hypothyroidism (SCH) is associated with increased risks of endothelial dysfunction and atherosclerosis, but the mechanisms remain unclear. In our previous study, microRNA-126-3p was downregulated in SCH, but the role and regulatory mechanism of miR-126 in SCH has not been investigated. A SCH mouse model was established by feeding mice methimazole. Read More

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SREBF2 triggers endoplasmic reticulum stress and Bax dysregulation to promote lipopolysaccharide-induced endothelial cell injury.

Cell Biol Toxicol 2021 Mar 6. Epub 2021 Mar 6.

Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.

An increased lipopolysaccharide (LPS) level in patients with cirrhosis induced the dysregulation of sterol regulatory element-binding transcription factor 2 (SREBF2), which participated in the modulation of tumor inflammatory microenvironment. However, the role of SREBF2 in the LPS-induced injury of portal vein endothelium was scarcely reported. This study aimed to investigate the effects of SREBF2 on the LPS-induced injury to endothelial cells (ECs) in vitro and in vivo and explore the underlying mechanism. Read More

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