keyword
https://read.qxmd.com/read/38424630/polymorphism-rs143384-gdf5-reduces-the-risk-of-knee-osteoarthritis-development-in-obese-individuals-and-increases-the-disease-risk-in-non-obese-population
#1
JOURNAL ARTICLE
Vitaly Novakov, Olga Novakova, Maria Churnosova, Inna Aristova, Marina Ponomarenko, Yuliya Reshetnikova, Vladimir Churnosov, Inna Sorokina, Irina Ponomarenko, Olga Efremova, Valentina Orlova, Irina Batlutskaya, Alexey Polonikov, Evgeny Reshetnikov, Mikhail Churnosov
BACKGROUND: We investigated the effect of obesity on the association of genome-wide associative studies (GWAS)-significant genes with the risk of knee osteoarthritis (KOA). METHODS: All study participants (n = 1,100) were divided into 2 groups in terms of body mass index (BMI): BMI ≥ 30 (255 KOA patients and 167 controls) and BMI < 30 (245 KOA and 433 controls). The eight GWAS-significant KOA single nucleotide polymorphisms (SNP) of six candidate genes, such as LYPLAL1 (rs2820436, rs2820443), SBNO1 (rs1060105, rs56116847), WWP2 (rs34195470), NFAT5 (rs6499244), TGFA (rs3771501), GDF5 (rs143384), were genotyped...
March 1, 2024: Arthroplasty
https://read.qxmd.com/read/38392646/-lpl-rs264-procr-rs867186-and-pdgf-rs974819-gene-polymorphisms-in-patients-with-unstable-angina
#2
JOURNAL ARTICLE
Damian Malinowski, Krzysztof Safranow, Andrzej Pawlik
BACKGROUND: Coronary artery disease is caused by changes in the coronary arteries due to the atherosclerotic process and thrombotic changes. A very important role in the development of the atherosclerotic process in the coronary vessels is played by the inflammatory process and the immune response. Due to the important role of lipids and the coagulation process in the atherosclerotic process, research has also focused on genes affecting lipid metabolism and the coagulation system. Lipoprotein lipase (LPL) is an enzyme that metabolises lipids, hydrolysing triglycerides to produce free fatty acids and glycerol...
February 16, 2024: Journal of Personalized Medicine
https://read.qxmd.com/read/38300190/meta-analysis-of-ace-inhibitor-induced-angioedema-identifies-novel-risk-locus
#3
JOURNAL ARTICLE
Carina M Mathey, Carlo Maj, Niclas Eriksson, Kristi Krebs, Julia Westmeier, Friederike S David, Maria Koromina, Annika B Scheer, Nora Szabo, Bettina Wedi, Dorothea Wieczorek, Philipp M Amann, Harald Löffler, Lukas Koch, Clemens Schöffl, Heinrich Dickel, Nomun Ganjuur, Thorsten Hornung, Timo Buhl, Jens Greve, Gerda Wurpts, Emel Aygören-Pürsün, Michael Steffens, Stefan Herms, Stefanie Heilmann-Heimbach, Per Hoffmann, Börge Schmidt, Laven Mavarani, Trine Andresen, Signe Bek Sørensen, Vibeke Andersen, Ulla Vogel, Mikael Landén, Cynthia M Bulik, Anette Bygum, Patrik K E Magnusson, Christian von Buchwald, Pär Hallberg, Sisse Rye Ostrowski, Erik Sørensen, Ole B Pedersen, Henrik Ullum, Christian Erikstrup, Henning Bundgaard, Lili Milani, Eva Rye Rasmussen, Mia Wadelius, Jonas Ghouse, Bernhardt Sachs, Markus M Nöthen, Andreas J Forstner
BACKGROUND: Angioedema is a rare but potentially life-threatening adverse drug reaction in patients receiving angiotensin-converting enzyme inhibitors (ACEis). Research suggests that susceptibility to ACEi-induced angioedema (ACEi-AE) involves both genetic and nongenetic risk factors. Genome- and exome-wide studies of ACEi-AE have identified the first genetic risk loci. However, understanding of the underlying pathophysiology remains limited. OBJECTIVE: We sought to identify further genetic factors of ACEi-AE to eventually gain a deeper understanding of its pathophysiology...
January 22, 2024: Journal of Allergy and Clinical Immunology
https://read.qxmd.com/read/38237862/the-breast-cancer-coagulome-in-the-tumor-microenvironment-and-its-role-in-prognosis-and-treatment-response-to-chemotherapy
#4
JOURNAL ARTICLE
Mari Tinholt, Xavier Tekpli, Lilly Anne Torland, Andliena Tahiri, Jürgen Geisler, Vessela Kristensen, Per Morten Sandset, Nina Iversen
BACKGROUND: The procoagulant phenotype in cancer is linked to thrombosis, cancer progression and immune response. It remains to identify novel treatment that reduces both the risk of thrombosis and cancer progression, without excess bleeding risk. OBJECTIVES: Here, we aimed to broadly investigate the breast tumor coagulome and its relation to prognosis, treatment response to chemotherapy, and the tumor microenvironment. METHODS: Key coagulation related genes (n=35) were studied in a Norwegian cohort with tumor (n=134) and normal (n=189) tissue and in the cancer genome atlas (TCGA) (n=1052) dataset...
January 16, 2024: Journal of Thrombosis and Haemostasis: JTH
https://read.qxmd.com/read/38141612/niche-inflammatory-signals-control-oscillating-mammary-regeneration-and-protect-stem-cells-from-cytotoxic-stress
#5
JOURNAL ARTICLE
Chunye Liu, Yishu Xu, Guowei Yang, Yu Tao, Jiali Chang, Shihui Wang, Tom H Cheung, Jianfeng Chen, Yi Arial Zeng
Stem cells are known for their resilience and enhanced activity post-stress. The mammary gland undergoes frequent remodeling and is subjected to recurring stress during the estrus cycle, but it remains unclear how mammary stem cells (MaSCs) respond to the stress and contribute to regeneration. We discovered that cytotoxic stress-induced activation of CD11c+ ductal macrophages aids stem cell survival and prevents differentiation. These macrophages boost Procr+ MaSC activity through IL1β-IL1R1-NF-κB signaling during the estrus cycle in an oscillating manner...
January 4, 2024: Cell Stem Cell
https://read.qxmd.com/read/38075960/the-association-between-epcr-gene-p-ser219gly-polymorphism-and-venous-thromboembolism-risk-a-case-control-study-meta-analysis-and-a-reproducibility-study
#6
REVIEW
Dóra Pituk, Tünde Miklós, Ágota Schlammadinger, Katalin Rázsó, Zsuzsanna Bereczky
BACKGROUND: The rs867186 single-nucleotide polymorphism in the PROCR gene (g.6936A > G, c.4600A > G) results in a serine-to-glycine substitution at codon 219 of endothelial protein C receptor (EPCR). We performed a case-control study followed by an updated meta-analysis of the association between this polymorphism and the risk of venous thromboembolism (VTE). OBJECTIVE AND METHODS: We enrolled 263 VTE patients and 320 unrelated healthy controls for the case-control study...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/37990533/bioinformatics-analysis-of-differentially-expressed-genes-related-to-ischemia-and-hypoxia-in-spinal-cord-injury-and-construction-of-mirna-mrna-or-mrna-transcription-factor-interaction-network
#7
JOURNAL ARTICLE
Lijuan Zhu, Na Gao, Zhibo Zhu, Shiping Zhang, Xi Li, Jing Zhu
Background: Previous studies show that spinal cord ischemia and hypoxia is an important cause of spinal cord necrosis and neurological loss. Therefore, the study aimed to identify genes related to ischemia and hypoxia after spinal cord injury (SCI) and analyze their functions, regulatory mechanism, and potential in regulating immune infiltration. Methods: The expression profiles of GSE5296, GSE47681, and GSE217797 were downloaded from the Gene Expression Omnibus database. Gene ontology and Kyoto Encyclopedia of Genes and Genomes analyses were performed to determine function and pathway enrichment of ischemia- and hypoxia-related differentially expressed genes (IAHRDEGs) in SCI...
November 21, 2023: Toxicology Mechanisms and Methods
https://read.qxmd.com/read/37967531/reprogramming-tumor-associated-macrophages-to-outcompete-endovascular-endothelial-progenitor-cells-and-suppress-tumor-neoangiogenesis
#8
JOURNAL ARTICLE
Mytrang H Do, Wei Shi, Liangliang Ji, Erik Ladewig, Xian Zhang, Raghvendra M Srivastava, Kristelle J Capistrano, Chaucie Edwards, Isha Malik, Briana G Nixon, Efstathios G Stamatiades, Ming Liu, Shun Li, Peng Li, Chun Chou, Ke Xu, Ting-Wei Hsu, Xinxin Wang, Timothy A Chan, Christina S Leslie, Ming O Li
Tumors develop by invoking a supportive environment characterized by aberrant angiogenesis and infiltration of tumor-associated macrophages (TAMs). In a transgenic model of breast cancer, we found that TAMs localized to the tumor parenchyma and were smaller than mammary tissue macrophages. TAMs had low activity of the metabolic regulator mammalian/mechanistic target of rapamycin complex 1 (mTORC1), and depletion of negative regulator of mTORC1 signaling, tuberous sclerosis complex 1 (TSC1), in TAMs inhibited tumor growth in a manner independent of adaptive lymphocytes...
November 14, 2023: Immunity
https://read.qxmd.com/read/37925455/identification-of-novel-diagnostic-panel-for-mild-cognitive-impairment-and-alzheimer-s-disease-findings-based-on-urine-proteomics-and-machine-learning
#9
JOURNAL ARTICLE
Yuye Wang, Yu Sun, Yu Wang, Shuhong Jia, Yanan Qiao, Zhi Zhou, Wen Shao, Xiangfei Zhang, Jing Guo, Bin Zhang, Xiaoqian Niu, Yi Wang, Dantao Peng
BACKGROUND: Alzheimer's disease is a prevalent disease with a heavy global burden. Proteomics is the systematic study of proteins and peptides to provide comprehensive descriptions. Aiming to obtain a more accurate and convenient clinical diagnosis, researchers are working for better biomarkers. Urine is more convenient which could reflect the change of disease at an earlier stage. Thus, we conducted a cross-sectional study to investigate novel diagnostic panels. METHODS: We firstly enrolled participants from China-Japan Friendship Hospital from April 2022 to November 2022, collected urine samples, and conducted an LC-MS/MS analysis...
November 4, 2023: Alzheimer's Research & Therapy
https://read.qxmd.com/read/37709737/stromal-heterogeneity-may-explain-increased-incidence-of-metaplastic-breast-cancer-in-women-of-african-descent
#10
JOURNAL ARTICLE
Brijesh Kumar, Aditi S Khatpe, Jiang Guanglong, Katie Batic, Poornima Bhat-Nakshatri, Maggie M Granatir, Rebekah Joann Addison, Megan Szymanski, Lee Ann Baldridge, Constance J Temm, George Sandusky, Sandra K Althouse, Michele L Cote, Kathy D Miller, Anna Maria Storniolo, Harikrishna Nakshatri
The biologic basis of genetic ancestry-dependent variability in disease incidence and outcome is just beginning to be explored. We recently reported enrichment of a population of ZEB1-expressing cells located adjacent to ductal epithelial cells in normal breasts of women of African ancestry compared to those of European ancestry. In this study, we demonstrate that these cells have properties of fibroadipogenic/mesenchymal stromal cells that express PROCR and PDGFRα and transdifferentiate into adipogenic and osteogenic lineages...
September 14, 2023: Nature Communications
https://read.qxmd.com/read/37308506/thrombogenesis-associated-genetic-determinants-as-predictors-of-thromboembolism-and-prognosis-in-cervical-cancer
#11
JOURNAL ARTICLE
Beatriz Vieira Neto, Valéria Tavares, José Brito da Silva, Joana Liz-Pimenta, Inês Soares Marques, Luísa Carvalho, Lurdes Salgado, Deolinda Pereira, Rui Medeiros
Venous thromboembolism (VTE) is a leading cause of death among cancer patients. Khorana score (KS) is the most studied tool to predict cancer-related VTE, however, it exerts poor sensitivity. Several single-nucleotide polymorphisms (SNPs) have been associated with VTE risk in the general population, but whether they are predictors of cancer-related VTE is a matter of discussion. Compared to other solid tumours, little is known about VTE in the setting of cervical cancer (CC) and whether thrombogenesis-related polymorphisms could be valuable biomarkers in patients with this neoplasia...
June 12, 2023: Scientific Reports
https://read.qxmd.com/read/37244747/directive-clinique-n-o-437-diagnostic-et-prise-en-charge-de-l-ad%C3%A3-nomyose
#12
E Shirin Dason, Madalina Maxim, Ari Sanders, Jessica Papillon-Smith, Danny Ng, Crystal Chan, Mara Sobel
OBJECTIF: Décrire les pratiques actuelles fondées sur des données probantes pour le diagnostic et la prise en charge de l'adénomyose. POPULATION CIBLE: Toutes les patientes en âge de procréer qui ont un utérus. OPTIONS: Les options diagnostiques sont l'échographie endovaginale et l'imagerie par résonance magnétique. Les options thérapeutiques doivent être adaptées aux symptômes (saignements menstruels abondants, douleur et/ou infertilité) et comprendre des options médicamenteuses (anti-inflammatoires non stéroïdiens, acide tranexamique, contraceptifs oraux combinés, système intra-utérin à libération de lévonorgestrel, diénogest, autres progestatifs, analogues de la gonadotrophine), des options interventionnelles (embolisation de l'artère utérine) et des options chirurgicales (ablation de l'endomètre, excision de l'adénomyose, hystérectomie)...
June 2023: Journal of Obstetrics and Gynaecology Canada: JOGC
https://read.qxmd.com/read/37175682/an-exploratory-study-using-next-generation-sequencing-to-identify-prothrombotic-variants-in-patients-with-cerebral-vein-thrombosis
#13
JOURNAL ARTICLE
Robert Anton Kramer, Robert Zimmermann, Julian Strobel, Susanne Achenbach, Armin Michael Ströbel, Holger Hackstein, David Alexander Christian Messerer, Sabine Schneider
Prothrombotic hereditary risk factors for cerebral vein thrombosis (CVT) are of clinical interest to better understand the underlying pathophysiology and stratify patients for the risk of recurrence. This study explores prothrombotic risk factors in CVT patients. An initial screening in patients of the outpatient clinic of the Department of Transfusion Medicine and Hemostaseology of the University Hospital Erlangen, Germany, revealed 183 patients with a history of CVT. An initial screening identified a number of common prothrombic risk factors, including Factor V Leiden (rs6025) and Prothrombin G20210A (rs1799963)...
April 28, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37025067/spatially-multicellular-variability-of-intervertebral-disc-degeneration-by-comparative-single-cell-analysis
#14
JOURNAL ARTICLE
Peng Lin, Pulin Yan, Jun Zhu, Sha Huang, Zhong Wang, Ou Hu, Huaijian Jin, Yangyang Li, Liang Zhang, Jianhua Zhao, Lin Chen, Bing Liu, Jian He, Yibo Gan, Peng Liu
Previous studies have revealed cellular heterogeneity in intervertebral discs (IVDs). However, the cellular and molecular alteration patterns of cell populations during degenerative progression remain to be fully elucidated. To illustrate the cellular and molecular alteration of cell populations in intervertebral disc degeneration (IDD), we perform single cell RNA sequencing on cells from four anatomic sites of healthy and degenerative goat IVDs. EGLN3+ StressCs, TGFBR3+ HomCs and GPRC5A+ RegCs exhibit the characteristics associated with resistance to stress, maintaining homeostasis and repairing, respectively...
April 6, 2023: Cell Proliferation
https://read.qxmd.com/read/36912588/function-of-stem-cells-in-radiation-induced-damage
#15
JOURNAL ARTICLE
Yingtong Liu, Zheran Liu, Liqiang Hu, Ling He, Lianlian Yang, Zijian Qin, Yuping Xie, Xingchen Peng, Lei Dai
PURPOSE: The aim of this review is to discuss previous studies on the function of stem cells in radiation-induced damage, and the factors affecting these processes, in the hope of improving our understanding of the different stem cells and the communication networks surrounding them. This is essential for the development of effective stem cell-based therapies to regenerate or replace normal tissues damaged by radiation. CONCLUSION: In salivary glands, senescence-associated cytokines and inflammation-associated cells have a greater effect on stem cells...
March 23, 2023: International Journal of Radiation Biology
https://read.qxmd.com/read/36814838/identifying-key-multifunctional-components-shared-by-critical-cancer-and-normal-liver-pathways-via-sparsegmm
#16
JOURNAL ARTICLE
Shaimaa Bakr, Kevin Brennan, Pritam Mukherjee, Josepmaria Argemi, Mikel Hernaez, Olivier Gevaert
Despite the abundance of multimodal data, suitable statistical models that can improve our understanding of diseases with genetic underpinnings are challenging to develop. Here, we present SparseGMM, a statistical approach for gene regulatory network discovery. SparseGMM uses latent variable modeling with sparsity constraints to learn Gaussian mixtures from multiomic data. By combining coexpression patterns with a Bayesian framework, SparseGMM quantitatively measures confidence in regulators and uncertainty in target gene assignment by computing gene entropy...
January 23, 2023: Cell Rep Methods
https://read.qxmd.com/read/36497199/insulitis-in-human-type-1-diabetic-pancreas-from-stem-cell-grafting-to-islet-organoids-for-a-successful-cell-based-therapy
#17
REVIEW
Marcella La Noce, Giovanni Francesco Nicoletti, Gianpaolo Papaccio, Vitale Del Vecchio, Federica Papaccio
Type 1 diabetes (T1D) is an autoimmune disease with immune cells' islet infiltration (called "insulitis"), which leads to beta cell loss. Despite being the critical element of T1D occurrence and pathogenesis, insulitis is often present in a limited percentage of islets, also at diagnosis. Therefore, it is needed to define reproducible methods to detect insulitis and beta-cell decline, to allow accurate and early diagnosis and to monitor therapy. However, this goal is still far due to the morphological aspect of islet microvasculature, which is rather dense and rich, and is considerably rearranged during insulitis...
December 6, 2022: Cells
https://read.qxmd.com/read/36016774/comparative-transcriptome-analysis-of-mdbk-cells-reveals-that-boifn-%C3%AE-augmented-host-immune-responses-to-bovine-herpesvirus-1-infection
#18
JOURNAL ARTICLE
Bo Jiang, Jing Wang, Wenxiao Liu, Jing Cheng, Jian Xu, Mengyao Cao, Yongqing Li
Bovine herpesvirus 1 (BoHV-1) is an alphaherpesvirus that causes infectious bovine rhinotracheitis and infectious pustular vulvovaginitis in cattle. Ιnterferon-gamma (IFN-γ) is a pleiotropic cytokine with antiviral activity that modulates the innate and adaptive immune responses. In this study, we prepared high-purity bovine interferon gamma (BoIFN-γ) dimer protein using prokaryotic expression system and affinity chromatography. We subsequently investigated the effect of BoIFN-γ on BoHV-1 infection in Madin-Darby bovine kidney (MDBK) cells...
2022: Frontiers in Microbiology
https://read.qxmd.com/read/35936748/differential-expression-and-prognostic-correlation-of-immune-related-factors-between-right-and-left-side-colorectal-cancer
#19
JOURNAL ARTICLE
Yue Hu, Jie Ding, Chengjiang Wu, Hong Gao, Meiling Ge, Qixiang Shao, Yanhong Liu, Qing Ye
Background: Growing evidence suggests that colorectal cancer (CRC) should be considered a heterogeneous disease. The right side (RCC) and left side (LCC) colorectal cancer have different clinical characteristics and immune landscapes. The aim of this study was to analyze differential expression and prognostic correlation of immune-related factors between RCC and LCC. Methods: The gene expression profile and clinical characteristics of CRC patients were retrieved from The Cancer Genome Atlas data portal (n=525)...
2022: Frontiers in Oncology
https://read.qxmd.com/read/35717947/n-glycosylation-deficiency-reduces-the-activation-of-protein-c-and-disrupts-endothelial-barrier-integrity
#20
JOURNAL ARTICLE
Tiffany Pascreau, François Saller, Elsa P Bianchini, Dominique Lasne, Arnaud Bruneel, Christelle Reperant, François Foulquier, Cécile V Denis, Pascale De Lonlay, Delphine Borgel
Phosphomannomutase 2 (PMM2) deficiency is the most prevalent congenital disorder of glycosylation. It is associated with coagulopathy, including protein C deficiency. Since all components of the anticoagulant and cytoprotective protein C system are glycosylated, we sought to investigate the impact of an N -glycosylation deficiency on this system as a whole. To this end, we developed a PMM2 knockdown model in the brain endothelial cell line hCMEC/D3. The resulting PMM2low cells were less able to generate activated protein C (APC), due to lower surface expression of thrombomodulin and endothelial protein C receptor...
September 2022: Thrombosis and Haemostasis
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