178,527 results match your criteria genetic background

The impact of genetic risk on liver fibrosis in non-alcoholic fatty liver disease as assessed by magnetic resonance elastography.

Aliment Pharmacol Ther 2021 May 11. Epub 2021 May 11.

Division of Gastroenterology, NAFLD Research Center, University of California at San Diego, La Jolla, CA, USA.

Background: Variants in multiple genetic loci modify the risk of non-alcoholic fatty liver disease (NAFLD) and cirrhosis but there are limited data on the quantitative impact of variant copies on liver fibrosis.

Aim: To investigate the effect of PNPLA3, TM6SF2, MBOAT7, GCKR and HSD17B13 genotype on liver fibrosis assessed by magnetic resonance elastography (MRE), a reproducible, accurate, continuous biomarker of liver fibrosis.

Methods: This is a cross-sectional analysis derived from a well-characterised cohort at risk for NAFLD who underwent genotyping and MRE assessment. Read More

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Parental income and mental disorders in children and adolescents: prospective register-based study.

Int J Epidemiol 2021 May 11. Epub 2021 May 11.

Norwegian Institute of Public Health, Oslo, Norway.

Background: Children with low-income parents have a higher risk of mental disorders, although it is unclear whether other parental characteristics or genetic confounding explain these associations and whether it is true for all mental disorders.

Methods: In this registry-based study of all children in Norway (n = 1 354 393) aged 5-17 years from 2008 to 2016, we examined whether parental income was associated with childhood diagnoses of mental disorders identified through national registries from primary healthcare, hospitalizations and specialist outpatient services.

Results: There were substantial differences in mental disorders by parental income, except for eating disorders in girls. Read More

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Polymorphisms in TNFAIP3, but not in STAT4, BANK1, BLK, and TNFSF4, are associated with susceptibility to Takayasu arteritis.

Cell Immunol 2021 May 4;365:104375. Epub 2021 May 4.

Unidad de Investigación, Hospital Juárez de México, México City, Mexico. Electronic address:

Background: Takayasu arteritis (TAK) is considered a rare disease characterized by nonspecific inflammation of the large arteries, especially the aorta and its major branches. Because TAK is an autoimmune disease (AD), it could share susceptibility loci with other pathologies such as systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA), among others. Widely explored polymorphisms in non-HLA genes, including TNFAIP3, STAT4, TNFSF4, BANK1, and BLK have been consistently associated with both SLE and RA, but they have not been evaluated in TAK. Read More

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Differential expression of insulin receptor substrate-1(IRS-1) in visceral and subcutaneous adipose depots of morbidly obese subjects undergoing bariatric surgery in a tertiary care center in north India; SNP analysis and correlation with metabolic profile.

Diabetes Metab Syndr 2021 May 5;15(3):981-986. Epub 2021 May 5.

Department of Biochemistry, All India Institute of Medical Sciences, Delhi, India. Electronic address:

Background: /aim: Abdominal obesity and associated metabolic consequences are a burgeoning problem in Asian Indians and studying their genetic predisposition is important. This study is aimed at assessing variations in Insulin receptor substrate-1 (IRS-1), its expression at regional fat-depots (visceral and subcutaneous) in morbidly obese patients, and correlation with genotype-phenotype traits.

Methods: Gene expression of IRS-1 in paired adipose tissue from 35 morbidly obese subjects (BMI) > 40 kg/m) with co-morbidities and 15 controls (BMI<25 kg/m), undergoing bariatric/elective abdominal surgery, respectively was determined by quantitative real time PCR. Read More

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Comparative transcriptome analysis of NaCl and KCl stress response in Malus hupehensis Rehd. Provide insight into the regulation involved in Na and K homeostasis.

Plant Physiol Biochem 2021 May 4;164:101-114. Epub 2021 May 4.

College of Horticulture, Qingdao Agricultural University, Qingdao, 266109, China; Qingdao Key Laboratory of Genetic Improvement and Breeding in Horticulture Plants, Qingdao, 266109, China. Electronic address:

Background: Apple is among the most widely cultivated perennial fruit crops worldwide. It is sensitive to salt stress, which seriously affects the growth and productivity of apple trees by destroying the homeostasis of Na and K. Previous studies focused on the molecular mechanism underlying NaCl stress. Read More

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Adult and adolescent C57BL/6 J and DBA/2 J mice are differentially susceptible to fear learning deficits after acute ethanol or MK-801 treatment.

Behav Brain Res 2021 May 8:113351. Epub 2021 May 8.

Department of Biobehavioral Health, Penn State University, 219 Biobehavioral Health Building, University Park, PA, 16801, United States. Electronic address:

Ethanol and other drugs of abuse disrupt learning and memory processes, creating problems associated with drug use and addiction. Understanding individual factors that determine susceptibility to drug-induced cognitive deficits, such as genetic background, age, and sex, is important for prevention and treatment. Comparison of adolescent and adult mice of both sexes across inbred mouse strains can reveal age, sex, and genetic contributions to phenotypes. Read More

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Technique for analyzing the transfer of colored cosmetics onto face masks.

Skin Res Technol 2021 May 11. Epub 2021 May 11.

Skin Clinical Trials Center, OATC Inc., Seoul, South Korea.

Background: With the rapid spread of COVID-19, the makeup trend in the cosmetics market is changing as mask-wearing has become a common practice. This study was conducted to establish an objective and reliable method for analyzing the transfer of colored cosmetics onto face masks.

Methods: A total of 24 women participated in this test. Read More

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Human immunotypes impose selection on viral genotypes through viral epitope specificity.

J Infect Dis 2021 May 11. Epub 2021 May 11.

Centre for Genomic Medicine, Copenhagen University Hospital, Copenhagen, Denmark.

Background: Understanding the genetic interplay between human hosts and infectious pathogens is crucial for how we interpret virulence factors. Here, we tested for associations between HIV and host genetics, and interactive genetic effects on viral load (VL) in HIV+ ART-naive clinical trial participants.

Methods: HIV genomes were sequenced and the encoded amino acid (AA) variants were associated with VL, human single nucleotide polymorphisms (SNPs) and imputed HLA alleles, using generalized linear models with Bonferroni correction. Read More

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Genetic variants and immune responses in a cohort of patients with varicella zoster virus encephalitis.

J Infect Dis 2021 May 11. Epub 2021 May 11.

Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark.

Background: Infection with varicella zoster virus (VZV) may involve different central nervous system (CNS) manifestations, including meningitis, encephalitis, and vasculitis. In cases where otherwise healthy individuals are affected, an inborn error of immunity may underlie increased susceptibility or severity of infection.

Methods: We collected a cohort of 17 adults who experienced VZV encephalitis and performed whole exome sequencing. Read More

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Incidence, Impact, and Management of Incidentalomas on Preoperative Computed Tomographic Angiograms for Breast Cancer Patients with and without Genetic Mutations.

Plast Reconstr Surg 2021 May 10. Epub 2021 May 10.

From the Division of Plastic Surgery and the Department of Radiology, Lenox Hill Hospital at Northwell Health; the Department of Surgery, Beaumont Health; and New York Breast Reconstruction Associates.

Background: Preoperative abdominal computed tomographic angiograms for free flap breast reconstruction improve operative safety and efficiency, but incidental findings are common and potentially affect management. In addition, the authors hypothesized that patients with genetic mutations might have a higher rate of significant findings. The authors present the largest series of computed tomographic angiogram "incidentalomas" in these two populations and an evidence-based algorithm for managing common findings. Read More

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Lack of Causal Effects or Genetic Correlation between Restless Legs Syndrome and Parkinson's Disease.

Mov Disord 2021 May 11. Epub 2021 May 11.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

Background: Epidemiological studies have reported an association between Parkinson's disease (PD) and restless legs syndrome.

Objectives: We aimed to use genetic data to study whether these 2 disorders are causally linked or share genetic architecture.

Methods: We performed two-sample Mendelian randomization and linkage disequilibrium score regression using summary statistics from recent genome-wide meta-analyses of PD and restless legs syndrome. Read More

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The Interaction between Rice Genotype and Magnaporthe oryzae Regulates the Assembly of Rice Root-Associated Microbiota.

Rice (N Y) 2021 May 11;14(1):40. Epub 2021 May 11.

State Key Laboratory of Ecological Pest Control for Fujian and Taiwan Crops, College of Life Science, Fujian Agriculture and Forestry University, Fuzhou, China.

Background: Utilizating the plant microbiome to enhance pathogen resistance in crop production is an emerging alternative to the use of chemical pesticides. However, the diversity and structure of the microbiota, and the assembly mechanisms of root-associated microbial communities of plants are still poorly understood.

Results: We invstigated the microbiota of the root endosphere and rhizosphere soils of the rice cultivar Nipponbare (NPB) and its Piz-t-transgenic line (NPB-Piz-t) when infected with the filamentous fungus Magnaporthe oryzae (M. Read More

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Plant regeneration and transformation of Trachyspermum ammi using Agrobacterium tumefaciens and zygotic embryos.

J Genet Eng Biotechnol 2021 May 11;19(1):68. Epub 2021 May 11.

Department of Plant Biotechnology - College of Life Science and Biotechnology, Shahid Beheshti University, Daneshjou Boulevard, Tehran, 19839-63113, Iran.

Background: Trachyspermum ammi is one of the key medicinal plant species with many beneficial properties. Thymol is the most important substance in the essential oil of this plant. Thymol is a natural monoterpene phenol with high anti-microbial, anti-bacterial, and anti-oxidant properties. Read More

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Cryopreservation of Orchid Pollinia Using the V Cryo-Plate Method.

Cryo Letters 2021 Jan-Feb;42(1):25-32

Department of Plant Science, Faculty of Science, Mahidol University, Bangkok, Thailand.

Background: Preserving pollinia viability and fertility for pollination at specific times of the year is very important in orchid breeding. One possible method is cryopreservation using aluminium cryo-plate which is increasingly used for the long-term storage of plant genetic resources.

Objective: To determine a V cryo-plate method for the cryopreservation of orchid pollinia and apply it to some Thai orchid species for breeding. Read More

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Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy.

Alzheimer Dis Assoc Disord 2021 May 11. Epub 2021 May 11.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

Background/purpose: Sporadic early-onset Alzheimer disease (sEOAD) and its visual variant, posterior cortical atrophy (PCA), have a disease onset at less than 65 years of age with no familial aggregation. The etiology and genetic basis of these diseases remain poorly understood. Our study aimed to identify additional mutations or variants associated with sEOAD and PCA and to further examine their genetic and phenotypic spectrums. Read More

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Hypertrophic Preconditioning Attenuates Myocardial Ischaemia-Reperfusion Injury by Modulating SIRT3-SOD2-mROS-Dependent Autophagy.

Cell Prolif 2021 May 11:e13051. Epub 2021 May 11.

Department of Cardiology, Shanghai Institute of Cardiovascular Diseases, Zhongshan Hospital, Fudan University, Shanghai, China.

Background: Ischaemic preconditioning elicited by brief periods of coronary occlusion and reperfusion protects the heart from a subsequent prolonged ischaemic insult. Here, we test the hypothesis that short-term non-ischaemic stimulation of hypertrophy renders the heart resistant to subsequent ischaemic injury.

Methods And Results: Transient transverse aortic constriction (TAC) was performed for 3 days in mice and then withdrawn for 4 days by aortic debanding, followed by subsequent exposure to myocardial ischaemia-reperfusion (I/R) injury. Read More

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Trans-Ethnic Fine-Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease.

Mov Disord 2021 May 11. Epub 2021 May 11.

Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.

Background: Despite evidence for the role of human leukocyte antigen (HLA) in the genetic predisposition to Parkinson's disease (PD), the complex haplotype structure and highly polymorphic feature of the major histocompatibility complex (MHC) region has hampered a unified insight on the genetic risk of PD. In addition, a majority of the reports focused on Europeans, lacking evidence on other populations.

Objectives: The aim of this study is to elucidate the genetic features of the MHC region associated with PD risk in trans-ethnic cohorts. Read More

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A Case-Control Study of Major genetic pre-disposition risk alleles in developing DDD in the Northeast US population: Effects of Gene-Gene Interactions.

Spine (Phila Pa 1976) 2021 May 10. Epub 2021 May 10.

Center for Evidence-Based Imaging (CEBI) Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA Department of Emergency Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.

Study Design: A case-control study of risk alleles for Degenerative Disc Disease (DDD) using magnetic resonance (MR) imaging for phenotyping.

Objective: We aim to provide the first statistically adequately powered study of the relationship between the presence of common risk alleles and occurrence of DDD in Eastern US population.

Summary Of Background Data: Many genetic pre-disposing factors have been identified in elevating the risk of DDD, including common variants in VDR, COL1A1, AGC1, COL9A2/3 genes. Read More

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[The impact of genetic and environmental regulation on the expression of antibiotic resistance genes in Enterobacteriaceae].

Sheng Wu Gong Cheng Xue Bao 2021 Apr;37(4):1092-1106

College of Veterinary Medicine, China Agricultural University, Beijing 100193, China.

Antibiotic resistance is a major global concern and challenge in the 21st century. Enterobacteriaceae are one of the important pathogens of hospital-acquired infections. With the increasing use of antibiotics in clinical practice, a variety of drug-resistant Enterobacteriaceae, especially multidrug-resistant Enterobacteriaceae have emerged, posing an increasingly serious threat to human health. Read More

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Dark corner artefact and diagnostic performance of a market-approved neural network for skin cancer classification.

J Dtsch Dermatol Ges 2021 May 10. Epub 2021 May 10.

Department of Dermatology, University of Heidelberg, Heidelberg, Germany.

Background And Objectives: Convolutional neural networks (CNN) have proven dermatologist-level performance in skin lesion classification. Prior to a broader clinical application, an assessment of limitations is crucial. Therefore, the influence of a dark tubular periphery in dermatoscopic images (also called dark corner artefact [DCA]) on the diagnostic performance of a market-approved CNN for skin lesion classification was investigated. Read More

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Cattle, climate and complexity: food security, quality and sustainability of the Australian cattle industries.

I J Lean P J Moate

Aust Vet J 2021 May 11. Epub 2021 May 11.

Agriculture Victoria, Ellinbank, Victoria, 3821, Australia.

Background: Marked increases in atmospheric CO concentrations are largely associated with the release of sequestered carbon in fossil fuels. While emissions of green-house gasses (GHG) from cattle have significant global warming potential, these are biogenic sources and substantially involve carbon in natural cycles, rather than fossil fuel. Cattle use human inedible feeds and by-products of human food production to produce nutrient-dense foods of great value to humans. Read More

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Genetically predicted circulating C-reactive protein concentration and colorectal cancer survival: A Mendelian randomization consortium study.

Cancer Epidemiol Biomarkers Prev 2021 May 10. Epub 2021 May 10.

Public Health Sciences, Fred Hutchinson Cancer Research Center.

Background: A positive association between circulating C-reactive protein (CRP) and colorectal cancer (CRC) survival was reported in observational studies, which are susceptible to unmeasured confounding and reverse causality. We used a Mendelian randomization approach to evaluate the association between genetically-predicted CRP concentrations and CRC-specific survival.

Methods: We used individual-level data for 16,918 eligible CRC cases of European ancestry from 15 studies within the International Survival Analysis of Colorectal Cancer Consortium. Read More

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Mutational Activation of Antibiotic Resistant Mechanisms in the Absence of Major Drug Efflux Systems of .

J Bacteriol 2021 May 10. Epub 2021 May 10.

School of Life Sciences, Arizona State University, Tempe, AZ 85287

Mutations are one of the common means by which bacteria acquire resistance to antibiotics. In an mutant lacking major antibiotic efflux pumps AcrAB and AcrEF, mutations can activate alternative pathways that lead to increased antibiotic resistance. In this work, we isolated and characterized compensatory mutations of this nature mapping in four different regulatory genes-, , , or The gain-of-function mutations in constitutively activated the BaeSR two-component regulatory system to increase the expression of the MdtABC efflux pump. Read More

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Antifungal susceptibility and mutations in the squalene epoxidase gene in dermatophytes of the species complex.

Antimicrob Agents Chemother 2021 May 10. Epub 2021 May 10.

Center of Expertise in Mycology Radboud University Medical Center/Canisius Wilhelmina Hospital, Nijmegen, The Netherlands

During the past decade, a prolonged and serious outbreak of dermatophytosis due to a terbinafine-resistant novel species in the complex is ongoing in India, and it spreads to several European countries. To investigate the molecular background of the squalene epoxidase () gene in order to understand the risk of emergence and spread of multi-resistance in dermatophytes. Antifungal susceptibility for fluconazole, griseofulvin, itraconazole, ketoconazole, miconazole, naftifine, sertaconazole, and terbinafine was tested in 135 isolates from India, China, Australia, Germany and The Netherlands. Read More

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Comparison of idiopathic recurrent acute pancreatitis [IRAP] and recurrent acute pancreatitis with genetic mutations.

Dig Liver Dis 2021 May 7. Epub 2021 May 7.

Division of Gastroenterology and Hepatology, Presbyterian Healthcare Services, Albuquerque, New Mexico, USA. Electronic address:

Background: Idiopathic recurrent acute pancreatitis (IRAP) describes frequent episodes of pancreatitis without an etiology found using current testing. We compared the natural history of IRAP with recurrent acute pancreatitis with genetic mutations.

Methods: Retrospective cohort of patients with recurrent acute pancreatitis (≥2 episodes) and negative conventional testing. Read More

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Establishment and preclinical application of a patient-derived xenograft model for uterine cancer.

Gynecol Oncol 2021 May 7. Epub 2021 May 7.

Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea; Samsung Advanced Institute for Health Sciences and Technology, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

Background: The patient-derived xenograft (PDX) model is a promising translational platform for duplicating the characteristics of primary tumors. Here, we established and characterized PDX models of uterine cancer to demonstrate their utility for preclinical drug testing.

Materials And Methods: We generated PDX tumors surgically derived from 58 cases of uterine cancer. Read More

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The microbiota of healthy dogs demonstrates individualized responses to synbiotic supplementation in a randomized controlled trial.

Anim Microbiome 2021 May 10;3(1):36. Epub 2021 May 10.

NomNomNow Inc, Nashville, TN, 37207, USA.

Background: Probiotics have been demonstrated to ameliorate clinical signs of gastrointestinal diseases in dogs in various studies. However, the effect of probiotics in a healthy population, as well as factors contributing individualized responses, remain largely unknown. This trial examined gut microbiota (GM) and health outcomes in household dogs after synbiotic (SN) supplementation containing probiotics and inulin (a prebiotic). Read More

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Novel chromosomal insertions of ISEcp1-bla and diverse antimicrobial resistance genes in Zambian clinical isolates of Enterobacter cloacae and Escherichia coli.

Antimicrob Resist Infect Control 2021 May 10;10(1):79. Epub 2021 May 10.

Division of Infection and Immunity, Research Center for Zoonosis Control, Hokkaido University, Sapporo, Japan.

Background: The epidemiology of extended-spectrum β-lactamases (ESBLs) has undergone dramatic changes, with CTX-M-type enzymes prevailing over other types. bla genes, encoding CTX-M-type ESBLs, are usually found on plasmids, but chromosomal location is becoming common. Given that bla-harboring strains often exhibit multidrug resistance (MDR), it is important to investigate the association between chromosomally integrated bla and the presence of additional antimicrobial resistance (AMR) genes, and to identify other relevant genetic elements. Read More

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Production of the biocommodities butanol and acetone from methanol with fluorescent FAST-tagged proteins using metabolically engineered strains of Eubacterium limosum.

Biotechnol Biofuels 2021 May 10;14(1):117. Epub 2021 May 10.

Institute of Microbiology and Biotechnology, Ulm University, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

Background: The interest in using methanol as a substrate to cultivate acetogens increased in recent years since it can be sustainably produced from syngas and has the additional benefit of reducing greenhouse gas emissions. Eubacterium limosum is one of the few acetogens that can utilize methanol, is genetically accessible and, therefore, a promising candidate for the recombinant production of biocommodities from this C1 carbon source. Although several genetic tools are already available for certain acetogens including E. Read More

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The genetic mechanism of heterosis utilization in maize improvement.

Genome Biol 2021 May 10;22(1):148. Epub 2021 May 10.

National Key Laboratory of Crop Genetic Improvement, Huazhong Agricultural University, Wuhan, 430070, China.

Background: In maize hybrid breeding, complementary pools of parental lines with reshuffled genetic variants are established for superior hybrid performance. To comprehensively decipher the genetics of heterosis, we present a new design of multiple linked F1 populations with 42,840 F1 maize hybrids, generated by crossing a synthetic population of 1428 maternal lines with 30 elite testers from diverse genetic backgrounds and phenotyped for agronomic traits.

Results: We show that, although yield heterosis is correlated with the widespread, minor-effect epistatic QTLs, it may be resulted from a few major-effect additive and dominant QTLs in early developmental stages. Read More

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