162,932 results match your criteria promoter regions


DNA Hypomethylation of the MPO Gene in Peripheral Blood Leukocytes Is Associated with Cerebral Stroke in the Acute Phase.

J Mol Neurosci 2021 Apr 17. Epub 2021 Apr 17.

Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, Tomsk, Russia.

Dysregulation of the oxidant-antioxidant system contributes to the pathogenesis of cerebral stroke (CS). Epigenetic changes of redox homeostasis genes, such as glutamate-cysteine ligase (GCLM), glutathione-S-transferase-P1 (GSTP1), thioredoxin reductase 1 (TXNRD1), and myeloperoxidase (MPO), may be biomarkers of CS. In this study, we assessed the association of DNA methylation levels of these genes with CS and clinical features of CS. Read More

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Residential surrounding greenness and DNA methylation: An epigenome-wide association study.

Environ Int 2021 Apr 12;154:106556. Epub 2021 Apr 12.

School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC 3004, Australia. Electronic address:

Background: DNA methylation is a potential biological mechanism through which residential greenness affects health, but little is known about its association with greenness and whether the association could be modified by genetic background. We aimed to evaluate the association between surrounding greenness and genome-wide DNA methylation and potential gene-greenness interaction effects on DNA methylation.

Methods: We measured blood-derived DNA methylation using the HumanMethylation450 BeadChip array (Illumina) for 479 Australian women, including 66 monozygotic, 66 dizygotic twin pairs, and 215 sisters of these twins. Read More

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Intracerebroventricular Administration of AAV9-PHP.B SYN1-EmGFP Induces Widespread Transgene Expression in the Mouse and Monkey CNS.

Hum Gene Ther 2021 Apr 16. Epub 2021 Apr 16.

Emory University, 1371, Yerkes National Primate Research Center, Atlanta, Georgia, United States.

Viral vectors made from adeno-associated virus (AAV) have emerged as preferred tools in basic and translational neuroscience research to introduce or modify genetic material in cells of interest. The use of viral vectors is particularly attractive in non-transgenic species, such as non-human primates. Injections of AAV solutions into the cerebrospinal fluid (CSF) is an effective method to achieve a broad distribution of a transgene in the central nervous system. Read More

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Homeodomain proteins POU-M2, antennapedia and abdominal-B are involved in regulation of the segment-specific expression of the clip-domain serine protease gene CLIP13 in the silkworm, Bombyx mori.

Insect Sci 2021 Apr 16. Epub 2021 Apr 16.

State Key Laboratory of Silkworm Genome Biology, Southwest University, Chongqing, 400716, China.

Clip-domain serine proteases (CLIPs) play important roles in insect innate immunity and development. Our previous studies indicated that CLIP13, an epidermis-specific gene, was involved in cuticle remodeling during molting and metamorphosis in the silkworm, Bombyx mori. However, the transcriptional regulatory mechanism and regulatory pathways of CLIP13 remained unclear. Read More

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Transcriptional Enhancer Factor Domain Family member 4 Exerts an Oncogenic Role in Hepatocellular Carcinoma by Hippo-Independent Regulation of Heat Shock Protein 70 Family Members.

Hepatol Commun 2021 Apr 20;5(4):661-674. Epub 2021 Jan 20.

Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland.

Transcriptional enhancer factor domain family member 4 (TEAD4) is a downstream effector of the conserved Hippo signaling pathway, regulating the expression of genes involved in cell proliferation and differentiation. It is up-regulated in several cancer types and is associated with metastasis and poor prognosis. However, its role in hepatocellular carcinoma (HCC) remains largely unexplored. Read More

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Effect of 5-azacytidine (5-aza) on UCP2 expression in human liver and colon cancer cells.

Int J Med Sci 2021 19;18(10):2176-2186. Epub 2021 Mar 19.

College of Veterinary Medicine & Institute of Veterinary Science, Kangwon National University, Chuncheon 24341, Korea.

The function of the uncoupling protein 2 (UCP2) is different for each cancer cell. However, the mechanism of expression is still unclear. DNA methylation affects protein expression and is one factor that transforms normal cells into cancer cells. Read More

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In vitro expression of precore proteins of hepatitis B virus subgenotype A1 is affected by HBcAg, and can affect HBsAg secretion.

Sci Rep 2021 Apr 14;11(1):8167. Epub 2021 Apr 14.

Hepatitis Virus Diversity Research Unit, Department of Internal Medicine, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

HBeAg, a non-particulate protein of hepatitis B virus (HBV), is translated from the precore/core region as a precursor, which is post-translationally modified. Subgenotype A1 of HBV, which is a risk factor for hepatocellular carcinoma (HCC), has unique molecular characteristics in the basic core promoter/precore regions. Carriers of A1 exhibit early HBeAg loss. Read More

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Inhibition of the FACT complex targets aberrant hedgehog signaling and overcomes resistance to smoothened antagonists.

Cancer Res 2021 Apr 14. Epub 2021 Apr 14.

Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine

Hedgehog signaling is aberrantly activated in hematological malignancies and solid tumors, and targeting it is a promising therapeutic strategy against these cancers. Resistance to clinically available hedgehog-targeted Smoothened inhibitor (SMOi) drugs has become a critical issue in hedgehog-driven cancer treatment. Our previous studies identified inhibition of BET and CDK7 as two epigenetic/transcriptional targeted therapeutic strategies for overcoming SMOi resistance, providing a promising direction for anti-hedgehog drug development. Read More

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Topoisomerase IIα represses transcription by enforcing promoter-proximal pausing.

Cell Rep 2021 Apr;35(2):108977

Centro Andaluz de Biología Molecular y Medicina Regenerativa-CABIMER, Universidad de Sevilla-CSIC-Universidad Pablo de Olavide, Sevilla 41092, Spain; Topology and DNA Breaks Group, Spanish National Cancer Centre (CNIO), Madrid 28029, Spain. Electronic address:

Accumulation of topological stress in the form of DNA supercoiling is inherent to the advance of RNA polymerase II (Pol II) and needs to be resolved by DNA topoisomerases to sustain productive transcriptional elongation. Topoisomerases are therefore considered positive facilitators of transcription. Here, we show that, in contrast to this general assumption, human topoisomerase IIα (TOP2A) activity at promoters represses transcription of immediate early genes such as c-FOS, maintaining them under basal repressed conditions. Read More

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ADC, D, f dataset calculated through the simplified IVIM model, with MGMT promoter methylation, age, and ECOG, in 38 patients with wildtype IDH glioblastoma.

Data Brief 2021 Apr 15;35:106950. Epub 2021 Mar 15.

Department of Radiation Oncology, Sunnybrook Health Sciences Center, University of Toronto, Toronto, ON, Canada.

Patients undergoing standard chemoradiation post-resection had MRIs at radiation planning and fractions 10 and 20 of chemoradiation. MRIs were 1.5T and 3D T2-FLAIR, pre- and post-contrast 3D T1-weighted (T1) and echo planar DWI with three b-values (0, 500, and 1000s/mm) were acquired. Read More

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Nox3-derived superoxide in cochleae induces sensorineural hearing loss Mechanisms of Nox3-dependent hearing loss.

J Neurosci 2021 Apr 13. Epub 2021 Apr 13.

Laboratory of Molecular Pharmacology, Biosignal Research Center, Kobe University, Kobe 657-8501, Japan

Reactive oxygen species (ROS) produced by NADPH oxidases (Nox) contribute to the development of different types of sensorineural hearing loss (SNHL), a common impairment in humans with no established treatment. Although the essential role of Nox3 in otoconia biosynthesis and its possible involvement in hearing have been reported in rodents, immunohistological methods targeted at detecting Nox3 expression in inner ear cells reveal ambiguous results. Therefore, the mechanism underlying -dependent SNHL remains unclear and warrants further investigation. Read More

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Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.

BMC Med Genomics 2021 Apr 13;14(1):103. Epub 2021 Apr 13.

Allergy and Molecular Immunology Laboratory, Lee Hiok Kwee Functional Genomics Laboratories, Department of Biological Sciences, Faculty of Science, National University of Singapore, Block S2, Level 5, 14 Science Drive 4, Lower Kent Ridge Road, Singapore, 117543, Singapore.

Background: Multiple factors have been attributed to acne vulgaris predisposition and individual variations in the severity of skin symptoms, and genetics stood out as one of the major factors.

Methods: We performed a systematic review on the genes and their variants that have been investigated for association with acne presentation and severity. A random-effect meta-analysis using the allele model (minor allele vs. Read More

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An insight into the promoter methylation of PHF20L1 and the gene association with metastasis in breast cancer.

Adv Clin Exp Med 2021 Apr 13. Epub 2021 Apr 13.

Department of Biomedicine, Faculty of Medicine, Meritorious Autonomous University of Puebla (BUAP), Puebla, Mexico.

Background: Plant homeodomain finger protein 20-like 1 (PHF20L1) is a protein reader involved in epigenetic regulation that binds monomethyl-lysine. An oncogenic function has been attributed to PHF20L1 but its role in breast cancer (BC) is not clear.

Objectives: To explore PHF20L1 promoter methylation and comprehensive bioinformatics analysis to improve understanding of the role of PHF20L1 in BC. Read More

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Single-cell CUT&Tag profiles histone modifications and transcription factors in complex tissues.

Nat Biotechnol 2021 Apr 12. Epub 2021 Apr 12.

Laboratory of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

In contrast to single-cell approaches for measuring gene expression and DNA accessibility, single-cell methods for analyzing histone modifications are limited by low sensitivity and throughput. Here, we combine the CUT&Tag technology, developed to measure bulk histone modifications, with droplet-based single-cell library preparation to produce high-quality single-cell data on chromatin modifications. We apply single-cell CUT&Tag (scCUT&Tag) to tens of thousands of cells of the mouse central nervous system and probe histone modifications characteristic of active promoters, enhancers and gene bodies (H3K4me3, H3K27ac and H3K36me3) and inactive regions (H3K27me3). Read More

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Dissecting cis-regulatory control of quantitative trait variation in a plant stem cell circuit.

Nat Plants 2021 Apr 12. Epub 2021 Apr 12.

Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.

Cis-regulatory mutations underlie important crop domestication and improvement traits. However, limited allelic diversity has hindered functional dissection of the large number of cis-regulatory elements and their potential interactions, thereby precluding a deeper understanding of how cis-regulatory variation impacts traits quantitatively. Here, we engineered over 60 promoter alleles in two tomato fruit size genes to characterize cis-regulatory sequences and study their functional relationships. Read More

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PRDM4 inhibits cell proliferation and tumorigenesis by inactivating the PI3K/AKT signaling pathway through targeting of PTEN in cervical carcinoma.

Oncogene 2021 Apr 12. Epub 2021 Apr 12.

Department of Reproductive Medicine, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, People's Republic of China.

PR domain zinc finger protein 4 (PRDM4) is a transcription factor that plays key roles in stem cell self-renewal and tumorigenesis. However, its biological role and exact mechanism in cervical cancer remain unknown. Here, both immunohistochemistry (IHC) and Western blot assays demonstrated that the expression of PRDM4 in cervical cancer tissues was much lower than that in the normal cervix. Read More

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DNA methylation in cord blood in association with prenatal depressive symptoms.

Clin Epigenetics 2021 Apr 12;13(1):78. Epub 2021 Apr 12.

Department of Women's and Children's Health, Uppsala University, Uppsala, Sweden.

Background: Prenatal symptoms of depression (PND) and anxiety affect up to every third pregnancy. Children of mothers with mental health problems are at higher risk of developmental problems, possibly through epigenetic mechanisms together with other factors such as genetic and environmental. We investigated DNA methylation in cord blood in relation to PND, taking into consideration a history of depression, co-morbidity with anxiety and selective serotonin reuptake inhibitors (SSRI) use, and stratified by sex of the child. Read More

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Homeodomain only protein X (HOPX) has an oncogenic activity during squamous skin carcinogenesis.

J Invest Dermatol 2021 Apr 9. Epub 2021 Apr 9.

Department of Dermatology and Venereology, University Hospital Centre (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland. Electronic address:

Cutaneous squamous cell carcinomas (cSCC) are frequent heterogeneous tumours, arising from sun-exposed regions of the skin and characterized by complex pathogenesis. HOPX is a member of the homeodomain-containing superfamily of proteins, holding an atypical homeodomain unable to bind DNA. First discovered in the heart as a regulator of cardiac development, in skin HOPX modulates terminal differentiation of keratinocytes. Read More

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Nrf2 as a potential target for Parkinson's disease therapy.

J Mol Med (Berl) 2021 Apr 12. Epub 2021 Apr 12.

The Institute of Medicine, Qiqihar Medical University, 333 BuKui Street, JianHua District, Qiqihar, 161006, China.

Parkinson's disease (PD) is a complex neurodegenerative disorder featuring both motor and nonmotor symptoms associated with a progressive loss of dopaminergic neurons in the substantia nigra pars compacta. Conventionally, PD treatment options have focused on dopamine replacement and provide only symptomatic relief. However, disease-modifying therapies are still unavailable. Read More

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The potential roles of different metacaspases in maize defense response.

Plant Signal Behav 2021 Apr 12:1906574. Epub 2021 Apr 12.

The Key Laboratory of Plant Development and Environmental Adaptation Biology, Ministry of Education, School of Life Sciences, Shandong University, Qingdao, Shandong, PR China.

Metacaspases (MCs), a class of cysteine-dependent proteases, act as important regulators in plant defense response. In maize genome, there are 11 which have been categorized into two types (type I and II) based on their structural differences. In this study, we investigated the different transcript patterns of 11 in maize defense response mediated by the nucleotide-binding, leucine-rich-repeat protein Rp1-D21. Read More

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Mining the Selective Remodeling of DNA Methylation in Promoter Regions to Identify Robust Gene-Level Associations With Phenotype.

Front Mol Biosci 2021 26;8:597513. Epub 2021 Mar 26.

Lab of Epigenetics and Advanced Health Technology, Space Science and Technology Institute, Shenzhen, China.

Epigenetics is an essential biological frontier linking genetics to the environment, where DNA methylation is one of the most studied epigenetic events. In recent years, through the epigenome-wide association study (EWAS), researchers have identified thousands of phenotype-related methylation sites. However, the overlaps of identified phenotype-related DNA methylation sites between various studies are often quite small, and it might be due to the fact that methylation remodeling has a certain degree of randomness within the genome. Read More

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Analysis of Polymorphisms in microRNAs Deregulated in Alzheimer Disease.

Front Neurosci 2021 24;15:631852. Epub 2021 Mar 24.

Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.

Background: Alzheimer's disease (AD) is a degenerative condition characterized by progressive cognitive impairment and dementia. Findings have revolutionized current knowledge of miRNA in the neurological conditions. Two regulatory mechanisms determine the level of mature miRNA expression; one is miRNA precursor processing, and the other is gene expression regulation by transcription factors. Read More

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Examination of ATM, BRCA1, and BRCA2 promoter methylation in patients with pancreatic cancer.

Pancreatology 2021 Mar 28. Epub 2021 Mar 28.

Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

Background: Pancreatic cancer is a lethal disease with a poor 5-year survival rate. Pathogenic germline variants in the coding regions of ATM, BRCA1, and BRCA2 are found in up to 4.8% of pancreatic cancer patients. Read More

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G-quadruplex stabilization via small-molecules as a potential anti-cancer strategy.

Biomed Pharmacother 2021 Apr 5;139:111550. Epub 2021 Apr 5.

Lab of Chemical Biology and Molecular Drug Design, College of Pharmaceutical Science, Zhejiang University of Technology, Hangzhou 310014, China; Institute of Drug Development & Chemical Biology, Zhejiang University of Technology, Hangzhou 310014, China. Electronic address:

G-quadruplexes (G4) are secondary four-stranded DNA helical structures consisting of guanine-rich nucleic acids, which can be formed in the promoter regions of several genes under proper conditions. Several cancer cells have been shown to emerge from genomic changes in the expression of crucial growth-regulating genes that allow cells to develop and begin to propagate in an undifferentiated state. Recent attempts have focused on producing treatments targeted at particular protein products of genes that are abnormally expressed. Read More

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Natural variation in APX9 is associated with a yield-enhancing QTL cluster in rice.

J Exp Bot 2021 Apr 8. Epub 2021 Apr 8.

Department of Agronomy, College of Agricultural and Life Science, Chungnam National University, Daejeon, Republic of Korea.

We previously identified a cluster of yield-related QTL including plant height and heading date in CR4379, a near-isogenic line from an interspecific cross between Oryza sativa spp. japonica cultivar 'Hwaseong' and the wild relative O. rufipogon. Read More

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Developmental Genetics of Corolla Tube Formation: Role of the tasiRNA-ARF Pathway and a Conceptual Model.

Plant Cell 2020 Nov;32(11):3452-3468

Department of Ecology and Evolutionary Biology, University of Connecticut, Storrs, Connecticut 06269.

Over 80,000 angiosperm species produce flowers with petals fused into a corolla tube. The corolla tube contributes to the tremendous diversity of flower morphology and plays a critical role in plant reproduction, yet it remains one of the least understood plant structures from a developmental genetics perspective. Through mutant analyses and transgenic experiments, we show that the tasiRNA-ARF pathway is required for corolla tube formation in the monkeyflower species Mimulus lewisii. Read More

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November 2020

H3K4 Methyltransferase Smyd3 Mediates Vascular Smooth Muscle Cell Proliferation, Migration, and Neointima Formation.

Arterioscler Thromb Vasc Biol 2021 Apr 8:ATVBAHA121314689. Epub 2021 Apr 8.

State Key Laboratory of Quality Research in Chinese Medicine and School of Pharmacy, Macau University of Science and Technology, Macau (D.Y., Y.Z.Z.).

Objective: Smyd3 (SET and MYND domain-containing protein 3) is an H3K4 (histone H3 lysine 4) dimethyltransferase and trimethyltransferase that activates the transcription of oncogenes and cell cycle genes in human cancer cells. We discovered its overexpression in proliferative vascular smooth muscle cells (VSMCs). However, whether Smyd3 plays a role in vascular remodeling remains unanswered. Read More

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The autism-associated protein CHD8 is required for cerebellar development and motor function.

Cell Rep 2021 Apr;35(1):108932

Department of Molecular and Cellular Biology, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan. Electronic address:

Mutations in the gene encoding the chromatin remodeler chromodomain helicase DNA-binding protein 8 (CHD8) are a highly penetrant risk factor for autism spectrum disorder (ASD). Although cerebellar abnormalities have long been thought to be related to ASD pathogenesis, it has remained largely unknown whether dysfunction of CHD8 in the cerebellum contributes to ASD phenotypes. We here show that cerebellar granule neuron progenitor (GNP)-specific deletion of Chd8 in mice impairs the proliferation and differentiation of these cells as well as gives rise to cerebellar hypoplasia and a motor coordination defect, but not to ASD-like behavioral abnormalities. Read More

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Chemotherapy-elicited exosomal miR-378a-3p and miR-378d promote breast cancer stemness and chemoresistance via the activation of EZH2/STAT3 signaling.

J Exp Clin Cancer Res 2021 Apr 6;40(1):120. Epub 2021 Apr 6.

Third Department of Breast Surgery, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.

Background: Not all breast cancer (BC) patients who receive neoadjuvant chemotherapy achieve a pathologic complete response (pCR), but the reasons for this are unknown. Previous studies have shown that exosomes produced in the tumor microenvironment in response to chemotherapy promote a chemotherapy-resistant phenotype in tumors. However, the role of BC chemotherapy-elicited exosomes in regulating chemoresistance is poorly understood. Read More

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Phase separation, transcriptional elongation control and human diseases.

J Mol Cell Biol 2021 Apr 5. Epub 2021 Apr 5.

School of Life Science and Technology, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing 210096, China.

Precise regulation of gene transcription is of great importance to development and diseases. Promoter-proximal transcriptional pause is a key and general mechanism to precisely control transcription in metazoans. Subsequent to transcription initiation and synthesis of a short RNA, RNA polymerase II (Pol II) usually pauses at the promoter-proximal regions, standing by for further signals to be released into the productive elongation stage. Read More

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