263,225 results match your criteria single genetic


Effect of rare coding variants of charged amino acid residues on the function of human organic anion transporting polypeptide 1B3 (SLCO1B3).

Biochem Biophys Res Commun 2021 Apr 11;557:1-7. Epub 2021 Apr 11.

College of Pharmaceutical Sciences, Soochow University, 199 Renai Road, Suzhou Industrial Park, Suzhou, Jiangsu, 215123, China. Electronic address:

Human organic anion transporting polypeptide 1B3 (OATP1B3, gene symbol SLCO1B3) is a liver-specific uptake transporter. Its function was reported to be largely affected by some positively charged amino acid residues. However, so far the effect of naturally occurring genetic variants of charged residues on OATP1B3's function has not been explored yet. Read More

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Cannabis use, pulmonary function, and lung cancer susceptibility: A Mendelian randomization study.

J Thorac Oncol 2021 Apr 11. Epub 2021 Apr 11.

Lunenfeld-Tanenbaum Research Institute, Sinai Health System; Division of Epidemiology, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.

Introduction: Because of widespread use, understanding the pulmonary effects of cannabis use is important but its role independent from tobacco smoking is yet to be elucidated. We used Mendelian randomization (MR) to assess the effect of genetic liability to lifetime cannabis use and cannabis use disorder on pulmonary function and lung cancer.

Methods: We used four single nucleotide polymorphisms (SNPs) associated with lifetime cannabis use (p value <5x10) from a genome-wide association study (GWAS) of 184,765 individuals of European descent from the International Cannabis Consortium, 23andme and UK Biobank as instrumental variables. Read More

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Stabilized epithelial phenotype of cancer cells in primary tumors leads to increased colonization of liver metastasis in pancreatic cancer.

Cell Rep 2021 Apr;35(2):108990

Department of Cancer Biology, Metastasis Research Center, University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA; Department of Bioengineering, Rice University, Houston, TX 77030, USA; Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

Pancreatic ductal adenocarcinoma (PDAC) is therapeutically recalcitrant and metastatic. Partial epithelial to mesenchymal transition (EMT) is associated with metastasis; however, a causal connection needs further unraveling. Here, we use single-cell RNA sequencing and genetic mouse models to identify the functional roles of partial EMT and epithelial stabilization in PDAC growth and metastasis. Read More

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Mapping Spatial Genetic Landscapes in Tissue Sections through Microscale Integration of Sampling Methodology into Genomic Workflows.

Small 2021 Apr 14:e2007901. Epub 2021 Apr 14.

IBM Research Europe, Säumerstrasse 4, Rüschlikon, CH-8803, Switzerland.

In cancer research, genomic profiles are often extracted from homogenized macrodissections of tissues, with the histological context lost and a large fraction of material underutilized. Pertinently, the spatial genomic landscape provides critical complementary information in deciphering disease heterogeneity and progression. Microscale sampling methods such as microdissection to obtain such information are often destructive to a sizeable fraction of the biopsy sample, thus showing limited multiplexability and adaptability to different assays. Read More

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Heterogeneous frailty and the expression of linear enamel hypoplasia in a genealogical population.

Am J Phys Anthropol 2021 Apr 14. Epub 2021 Apr 14.

Department of Anthropology, The Ohio State University, Columbus, Ohio, USA.

Objectives: Linear enamel hypoplasia (LEH) is a common skeletal marker of physiological stress (e.g., malnutrition or illness) that is studied within and across populations, without reference to familial risk. Read More

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High circulating insulin-like growth factor-1 reduces the risk of renal cell carcinoma: a Mendelian randomization study.

Carcinogenesis 2021 Apr 14. Epub 2021 Apr 14.

Departments of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States.

Insulin and insulin-like growth factors play important roles in carcinogenesis. Circulating insulin-like growth factor-1 (IGF-1) and insulin-like growth factor-binding protein-3 (IGFBP-3) have been linked to cancer susceptibility. The associations of circulating IGF-1 and IGFBP-3 with the risk of renal cell carcinoma (RCC) are inconsistent. Read More

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Development and Validation of a Clinical-Genetic Risk Score to Predict Hepatic Encephalopathy in Patients With Liver Cirrhosis.

Am J Gastroenterol 2021 Mar 2. Epub 2021 Mar 2.

SeLiver Group at Institute of Biomedicine of Seville (IBiS), Virgen del Rocio University Hospital/CSIC/University of Seville, Seville, Spain; CIBERehd, Instituto de Salud Carlos III, Madrid, Spain; UCM Digestive Diseases, Virgen del Rocío University Hospital, Seville, Spain; Department of Immunology, Hospital Universitario Virgen del Rocío, Seville, Spain; IIS Isabial, Hospital Universitario de Alicante, Alicante, Spain; Department of Clinical Medicine, Miguel Hernández University, Alicante, Spain; Department of Gastroenterology, Hospital de la Santa Creu y Sant Pau, Barcelona, Spain.

Introduction: We aimed to define the impact of the genetic background on overt hepatic encephalopathy (HE) in patients with liver cirrhosis by developing a combined clinical-genetic risk score.

Methods: Patients suffering from liver cirrhosis from the outpatient clinics of 4 hospitals (n = 600) were included and followed up for at least 5 years until HE bouts, liver transplant, or death. Patients were genotyped for 60 candidate single nucleotide polymorphisms together with the microsatellite in the promoter region of the gene GLS. Read More

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Multi-Objective Evolutionary Algorithm for PET Image Reconstruction: Concept.

IEEE Trans Med Imaging 2021 Apr 14;PP. Epub 2021 Apr 14.

In many diagnostic imaging settings, including positron emission tomography (PET), images are typically used for multiple tasks such as detecting disease and quantifying disease. Unlike conventional image reconstruction that optimizes a single objective, this work proposes a multi-objective optimization algorithm for PET image reconstruction to identify a set of images that are optimal for more than one task. This work is reliant on a genetic algorithm to evolve a set of solutions that satisfies two distinct objectives. Read More

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Bioactive Dimeric Tetrahydroxanthones with 2,2'- and 4,4'-Axial Linkages from the Entomopathogenic Fungus .

J Nat Prod 2021 Apr 14. Epub 2021 Apr 14.

National Center for Genetic Engineering and Biotechnology (BIOTEC), National Science and Technology Development Agency (NSTDA), Thailand Science Park, Phaholyothin Road, Khlong Luang, Pathum Thani 12120, Thailand.

Thirteen tetrahydroxanthone dimers, -ascherxanthone A (), ascherxanthones C-G (-), and confluxanthones A-G (-), were isolated from the entomopathogenic fungus BCC53152. The chemical structures were determined based on analysis of NMR spectroscopic and mass spectrometric data. The absolute configurations of compounds and were confirmed by single-crystal X-ray diffraction experiments, while the configurations of other compounds were assigned based upon evidence from NOESY and NOEDIFF experiments, modified Mosher's method, and ECD spectroscopic data together with biogenetic considerations. Read More

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Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.

J Pediatr Endocrinol Metab 2021 Apr 12. Epub 2021 Apr 12.

Department of Pediatrics, Division of Pediatric Endocrinology, Cukurova University Faculty of Medicine, Adana, Turkey.

Objectives: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way. Read More

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Single Nucleotide Polymorphisms (SNPs) in PRKG1 & SPATA13-AS1 are associated with bronchodilator response: a pilot study during acute asthma exacerbations in African American children.

Pharmacogenet Genomics 2021 Apr 12. Epub 2021 Apr 12.

Department of Emergency Medicine, Division of Research, University of Florida College of Medicine - Jacksonville Center for Data Solutions, University of Florida College of Medicine - Jacksonville University of Florida Health Jacksonville, Jacksonville Department of Pathology, University of Florida College of Medicine - Jacksonville Nemours Center for Pharmacogenomics and Translational Research, Jacksonville, Florida, USA.

Objective: Inhaled bronchodilators are the first-line treatment for asthma exacerbations, but individual bronchodilator response (BDR) varies by race and ethnicity. Studies have examined BDR's genetic underpinnings, but many did not include children or were not conducted during an asthma exacerbation. This pilot study tested single-nucleotide polymorphisms' (SNPs') association with pediatric African American BDR during an acute asthma exacerbation. Read More

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Rapid Acquisition of High-Quality SARS-CoV-2 Genome via Amplicon-Oxford Nanopore Sequencing.

Virol Sin 2021 Apr 13. Epub 2021 Apr 13.

CAS Key Laboratory of Special Pathogens and Biosafety, Wuhan Institute of Virology, Center for Biosafety Mega-Science, Chinese Academy of Sciences, Wuhan, 430071, China.

Genome sequencing has shown strong capabilities in the initial stages of the COVID-19 pandemic such as pathogen identification and virus preliminary tracing. While the rapid acquisition of SARS-CoV-2 genome from clinical specimens is limited by their low nucleic acid load and the complexity of the nucleic acid background. To address this issue, we modified and evaluated an approach by utilizing SARS-CoV-2-specific amplicon amplification and Oxford Nanopore PromethION platform. Read More

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Structural Covariance of Cortical Gyrification at Illness Onset in Treatment Resistance: A Longitudinal Study of First-Episode Psychoses.

Schizophr Bull 2021 Apr 14. Epub 2021 Apr 14.

Department of Psychosis Studies, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

Treatment resistance (TR) in patients with first-episode psychosis (FEP) is a major cause of disability and functional impairment, yet mechanisms underlying this severe disorder are poorly understood. As one view is that TR has neurodevelopmental roots, we investigated whether its emergence relates to disruptions in synchronized cortical maturation quantified using gyrification-based connectomes. Seventy patients with FEP evaluated at their first presentation to psychiatric services were followed up using clinical records for 4 years; of these, 17 (24. Read More

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Voluntary wheel running complements microdystrophin gene therapy to improve muscle function in mdx mice.

Mol Ther Methods Clin Dev 2021 Jun 3;21:144-160. Epub 2021 Mar 3.

Department of Human Nutrition, Foods, and Exercise and Metabolism Core, Virginia Tech, Blacksburg, VA 24060, USA.

We tested the hypothesis that voluntary wheel running would complement microdystrophin gene therapy to improve muscle function in young mdx mice, a model of Duchenne muscular dystrophy. mdx mice injected with a single dose of AAV9-CK8-microdystrophin or vehicle at age 7 weeks were assigned to three groups: mdxRGT (run, gene therapy), mdxGT (no run, gene therapy), or mdx (no run, no gene therapy). Wild-type (WT) mice were assigned to WTR (run) and WT (no run) groups. Read More

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Functional genetic variants in the 3'UTR of PTPRD associated with the risk of gestational diabetes mellitus.

Exp Ther Med 2021 Jun 26;21(6):562. Epub 2021 Mar 26.

Department of Obstetrics and Gynecology, Qinghai Red-Cross Hospital, Xining, Qinghai 810000, P.R. China.

A previous study revealed that protein tyrosine phosphatase receptor type D (PTPRD) is highly associated with diabetes mellitus, particularly for type 2 diabetes, through a genome-wide association study. However, the influence of the human polymorphism in the 3'-untranslated region (3'-UTR) of PTPRD on gestational diabetes mellitus (GDM) has remained to be defined. The present study focused on the functional polymorphism located in the 3'-UTR of PTPRD and whether it is associated with the susceptibility to develop GDM. Read More

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Moving somatic gene editing to the clinic: routes to market access and reimbursement in Europe.

Eur J Hum Genet 2021 Apr 14. Epub 2021 Apr 14.

Amsterdam UMC, Vrije Universiteit Amsterdam, Clinical Genetics, Section Community Genetics, Amsterdam Public Health research institute, Amsterdam, the Netherlands.

Somatic gene editing (SGE) holds great promise for making genetic therapy possible for many monogenic conditions very soon. Is our current system of European market authorization and reimbursement ready for the expected tsunami of gene therapies? At a recent workshop of the Netherlands ZonMw consortium on ethical, legal, and social implications of personalized medicine, we discussed the current possibilities for bringing new gene therapies to the clinic. In Europe, it is not yet clear whether the route via the European medicines agency as an advanced therapy medicinal product is the most appropriate for evaluation of highly personalized SGE applications, although this may optimally guarantee safety and effectiveness. Read More

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ABCC4 single-nucleotide polymorphisms as markers of tenofovir disoproxil fumarate-induced kidney impairment.

Pharmacogenomics J 2021 Apr 13. Epub 2021 Apr 13.

Unit of Clinical Pharmacology, Department of Laboratory Medicine, ASST Fatebenefratelli Sacco, Milan, Italy.

Recently, the use of antiretroviral drug tenofovir disoproxil fumarate (TDF) is increased, thanks to the new co-formulation with doravirine, the availability of booster-free regimens, and its advantageous lipid-lowering effect. The aim of our study was to identify genetic markers that contribute to assess the risk of TDF-related renal toxicity. We have retrospectively investigated, in 179 HIV positive patients treated with TDF, the association between the main variants in ABCC2, ABCC4, and ABCC10 genes and four safety endpoints, three clinically relevant as renal outcomes and a higher tenofovir plasma concentration. Read More

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Impact of Rap-Phr system abundance on adaptation of Bacillus subtilis.

Commun Biol 2021 Apr 13;4(1):468. Epub 2021 Apr 13.

Terrestrial Biofilms Group, Institute of Microbiology, Friedrich-Schiller-University Jena, Jena, Germany.

Microbes commonly display great genetic plasticity, which has allowed them to colonize all ecological niches on Earth. Bacillus subtilis is a soil-dwelling organism that can be isolated from a wide variety of environments. An interesting characteristic of this bacterium is its ability to form biofilms that display complex heterogeneity: individual, clonal cells develop diverse phenotypes in response to different environmental conditions within the biofilm. Read More

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Association of common TMPRSS6 and TF gene variants with hepcidin and iron status in healthy rural Gambians.

Sci Rep 2021 Apr 13;11(1):8075. Epub 2021 Apr 13.

Nutrition Theme, MRC Unit, The Gambia at London School of Hygiene & Tropical Medicine, Atlantic Boulevard, Fajara, P.O. Box 273, Banjul, The Gambia.

Genome-wide association studies in Europeans and Asians have identified numerous variants in the transmembrane protease serine 6 (TMPRSS6) and transferrin (TF) genes that are associated with changes in iron status. We sought to investigate the effects of common TMPRSS6 and TF gene SNPs on iron status indicators in a cohort of healthy Africans from rural Gambia. We measured iron biomarkers and haematology traits on individuals participating in the Keneba Biobank with genotype data on TMPRSS6 (rs2235321, rs855791, rs4820268, rs2235324, rs2413450 and rs5756506) and TF (rs3811647 and rs1799852), n = 1316. Read More

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Anti-Acanthamoeba synergistic effect of chlorhexidine and Garcinia mangostana extract or α-mangostin against Acanthamoeba triangularis trophozoite and cyst forms.

Sci Rep 2021 Apr 13;11(1):8053. Epub 2021 Apr 13.

School of Allied Health Sciences, Southeast Asia Water Team (SEA Water Team), World Union for Herbal Drug Discovery (WUHeDD), and Research Excellence Center for Innovation and Health Products (RECIHP), Walailak University, Nakhon Si Thammarat, Thailand.

Acanthamoeba spp. can cause amoebic keratitis (AK). Chlorhexidine is effective for AK treatment as monotherapy, but with a relative failure on drug bioavailability in the deep corneal stroma. Read More

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Evaluation and SNP typing of DNA from ultraviolet-irradiated human bloodstains using TaqMan assay.

Sci Rep 2021 Apr 13;11(1):8029. Epub 2021 Apr 13.

Division of Legal Medicine, Department of Social Medicine, Nihon University School of Medicine, Tokyo, 1738610, Japan.

When detecting DNA profiles from forensic materials, it is pivotal to know the extent of degradation and which DNA marker can be genotyped. Ultraviolet (UV) is one of the common external factors that causes DNA damage, through which, an attempt to reveal cardinal genetic information can be made. In this study, after irradiation with three different UV wavelengths, UV-damaged DNA in the bloodstains was analyzed with long and short TaqMan assays using real-time PCR. Read More

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Quantifying the Evolutionary Constraints and Potential of Hepatitis C Virus NS5A Protein.

mSystems 2021 Apr 13;6(2). Epub 2021 Apr 13.

Cancer Institute, ZJU-UCLA Joint Center for Medical Education and Research, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China

RNA viruses, such as hepatitis C virus (HCV), influenza virus, and SARS-CoV-2, are notorious for their ability to evolve rapidly under selection in novel environments. It is known that the high mutation rate of RNA viruses can generate huge genetic diversity to facilitate viral adaptation. However, less attention has been paid to the underlying fitness landscape that represents the selection forces on viral genomes, especially under different selection conditions. Read More

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Repeated mutation of a developmental enhancer contributed to human thermoregulatory evolution.

Proc Natl Acad Sci U S A 2021 Apr;118(16)

Department of Genetics, Perelman School of Medicine, Philadelphia, PA 19104;

Humans sweat to cool their bodies and have by far the highest eccrine sweat gland density among primates. Humans' high eccrine gland density has long been recognized as a hallmark human evolutionary adaptation, but its genetic basis has been unknown. In humans, expression of the () transcription factor correlates with the onset of eccrine gland formation. Read More

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An Infection-Tolerant Mammalian Reservoir for Several Zoonotic Agents Broadly Counters the Inflammatory Effects of Endotoxin.

mBio 2021 Apr 13;12(2). Epub 2021 Apr 13.

Department of Microbiology & Molecular Genetics, School of Medicine, University of California Irvine, Irvine, California, USA

Animals that are competent reservoirs of zoonotic pathogens commonly suffer little morbidity from the infections. To investigate mechanisms of this tolerance of infection, we used single-dose lipopolysaccharide (LPS) as an experimental model of inflammation and compared the responses of two rodents: , the white-footed deermouse and reservoir for the agents of Lyme disease and other zoonoses, and the house mouse Four hours after injection with LPS or saline, blood, spleen, and liver samples were collected and subjected to transcriptome sequencing (RNA-seq), metabolomics, and specific reverse transcriptase quantitative PCR (RT-qPCR). Differential expression analysis was at the gene, pathway, and network levels. Read More

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Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the gene.

BMJ Case Rep 2021 Apr 13;14(4). Epub 2021 Apr 13.

Division of Endocrinology and Metabolism, Jewish General Hospital, McGill University, Montreal, Québec, Canada

A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and coarse facial features, suggestive of CNC; however, she did not meet major diagnostic criteria for CNC. Previous extensive investigations revealed a mild insulin-like growth factor 1 elevation, a stable left adrenal gland adenoma and a slightly enlarged pituitary gland. Read More

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Leveraging Genomic Associations in Precision Digital Care for Weight Loss: Cohort Study.

J Med Internet Res 2021 Apr 11. Epub 2021 Apr 11.

Health Informatics, University of San Francisco, 2130 Fulton St, San Francisco, US.

Background: In this age of global COVID-19 pandemic, the urgency of addressing an epidemic of obesity and associated inflammatory illnesses has come to the fore. Studies have demonstrated that interactions between single nucleotide polymorphisms (SNPs) and lifestyle interventions like food and exercise may vary metabolic outcomes, contributing to obesity and therapeutic response. However, there is a paucity of research relating outcomes from digital therapeutics to inclusion of genetic data in care interventions. Read More

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Serum anti-Müllerian hormone levels are not associated with aneuploidy rates in human blastocysts.

Reprod Biomed Online 2021 Mar 15. Epub 2021 Mar 15.

IVI RMA Madrid, Av del Talgo 68, Madrid 28035, Spain; Rey Juan Carlos University, Madrid, Spain. Electronic address:

Research Question: Anti-Müllerian hormone (AMH) is the most established biomarker for estimating ovarian reserve. No reliable marker of oocyte quality, however, is available. Is there an association between the rates of aneuploidy and the different ranges of serum AMH levels?

Design: Retrospective, single-centre study of 1718 patients undergoing intracytoplasmic sperm injection and preimplantation genetic testing with aneuploidy at the blastocyst stage between January 2015 and December 2019. 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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The Pectobacterium pangenome, with a focus on Pectobacterium brasiliense, shows a robust core and extensive exchange of genes from a shared gene pool.

BMC Genomics 2021 Apr 14;22(1):265. Epub 2021 Apr 14.

Biointeractions and Plant Health, Wageningen Plant Research, Droevendaalsesteeg 1, 6708 PB, Wageningen, The Netherlands.

Background: Bacterial plant pathogens of the Pectobacterium genus are responsible for a wide spectrum of diseases in plants, including important crops such as potato, tomato, lettuce, and banana. Investigation of the genetic diversity underlying virulence and host specificity can be performed at genome level by using a comprehensive comparative approach called pangenomics. A pangenomic approach, using newly developed functionalities in PanTools, was applied to analyze the complex phylogeny of the Pectobacterium genus. Read More

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Association of cyclin-dependent kinase inhibitor 2B antisense RNA 1 gene expression and rs2383207 variant with breast cancer risk and survival.

Cell Mol Biol Lett 2021 Apr 13;26(1):14. Epub 2021 Apr 13.

Department of Medical Biochemistry, Faculty of Medicine, Taibah University, Medina, Saudi Arabia.

Background: The expression signature of deregulated long non-coding RNAs (lncRNAs) and related genetic variants is implicated in every stage of tumorigenesis, progression, and recurrence. This study aimed to explore the association of lncRNA cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) gene expression and the rs2383207A>G intronic variant with breast cancer (BC) risk and prognosis and to verify the molecular role and networks of this lncRNA in BC by bioinformatics gene analysis.

Methods: Serum CDKN2B-AS1 relative expression and rs2383207 genotypes were determined in 214 unrelated women (104 primary BC and 110 controls) using real-time PCR. Read More

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