3,597 results match your criteria confers genotypic

COL3A1 rs1800255 polymorphism is associated with pelvic organ prolapse susceptibility in Caucasian individuals: Evidence from a meta-analysis.

PLoS One 2021 30;16(4):e0250943. Epub 2021 Apr 30.

Department of Obstetrics and Gynecology, Seventh Medical Center, Chinese PLA General Hospital, Beijing, People's Republic of China.

Background: The collagen 3 alpha 1 (COL3A1) rs1800255 polymorphism has been reported to be associated with women pelvic organ prolapse (POP) susceptibility, but the results of these previous studies have been contradictory. The objective of current study is to explore whether COL3A1 rs1800255 polymorphism confers risk to POP.

Methods: Relevant literatures were searched by searching databases including Pubmed, Embase, Google academic, the Cochrane library, China National Knowledge Infrastructure (CNKI). Read More

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Green Leaf Volatile Confers Management of Late Blight Disease: A Green Vaccination in Potato.

J Fungi (Basel) 2021 Apr 18;7(4). Epub 2021 Apr 18.

Department of Plants and Crops, Valentin Vaerwyckweg 1, Faculty of Bioscience Engineering, Ghent University, 9000 Ghent, Belgium.

Yield losses of crops due to plant pathogens are a major threat in all agricultural systems. In view of environmental issues and legislative limitations for chemical crop protection products, the need to design new environmentally friendly disease management strategies has gained interest. Despite the unique capability of green leaf volatiles (GLVs) to suppress a broad spectrum of plant pathogens, their capacity to control the potato late-blight-causing agent has not been well studied. Read More

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A PNPLA3 polymorphism confers lower susceptibility to incident diabetes mellitus in subjects with nonalcoholic fatty liver disease.

Clin Gastroenterol Hepatol 2021 Apr 24. Epub 2021 Apr 24.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Seoul National University College of Medicine, Seoul Metropolitan Government Boramae Medical Center, Seoul, Korea; Innovative Target Exploration of NAFLD (ITEN) consortium, Seoul, Korea. Electronic address:

Background And Aims: We investigated the association between the patatin-like phospholipase domain-containing-3 (PNPLA3) rs738409 genotype and the risk of diabetes mellitus (DM) using a biopsy-confirmed nonalcoholic fatty liver disease (NAFLD) cohort and a longitudinal observational cohort.

Methods: Associations between genotypes and the prevalence of DM were evaluated with stratification according to the histological severity of NAFLD in the Boramae cohort (n = 706). A longitudinal cohort consisting of non-diabetic individuals with ≥2 health check-ups was then selected to investigate the risk of incident DM according to the genotype (the GENIE cohort; n = 4,998). Read More

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The new emerging ovine pestivirus can infect pigs and confers strong protection against classical swine fever virus.

Transbound Emerg Dis 2021 Apr 25. Epub 2021 Apr 25.

OIE Reference Laboratory for Classical Swine Fever, IRTA-CReSA, Barcelona, Spain.

Several emerging pestiviruses have been reported lately, some of which have proved to cause disease. Recently, a new ovine pestivirus (OVPV), isolated from aborted lambs, with high genetic identity to classical swine fever virus (CSFV), has proved to induce reproductive disorders in pregnant ewes. OVPV also generated strong serological and molecular cross-reaction with CSFV. Read More

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The ecological, genetic and genomic architecture of local adaptation and population differentiation in .

Proc Biol Sci 2021 Apr 21;288(1949):20202472. Epub 2021 Apr 21.

Institute of Ecology and Evolutionary Biology, National Taiwan University, Taipei 10617, Taiwan.

Differential local adaptation restricts gene flow between populations inhabiting distinct environments, resulting in isolation by adaptation. In addition to the statistical inferences of genotype-environment associations, an integrative approach is needed to investigate the effect of local adaptation on population divergence at the ecological, genetic and genomic scale. Here, we combine reciprocal transplant, genome-environment association and QTL mapping to investigate local adaptation in (Drummond's rockcress). Read More

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Genotype phenotype analysis in a family carrying truncating mutations in the titin gene.

Acta Myol 2021 Mar 31;40(1):61-65. Epub 2021 Mar 31.

Dynamic Biologics Inc., Monmouth Junction, New Jersey, USA.

We report a family carrying a previously described truncating mutation, NM_001267550.2(TTN):c.107889del p. Read More

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Factors associated to serum paraoxonase 1 activity in patients with cardiovascular disease.

Arch Endocrinol Metab 2021 Apr 12. Epub 2021 Apr 12.

Faculdade de Nutrição, Universidade Federal de Pelotas, Pelotas, RS, Brasil.

Objective: Paraoxonase 1 (PON1) is an enzyme that has antioxidant potential, which confers a protective effect against the atherosclerotic process. However, studies associating genetics, dietary patterns and PON1 activity in individuals with cardiovascular disease (CVD) are scarce. Thus, the aim of the current study was to evaluate the influence of dietary factors on serum PON1 in CVD patients. Read More

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rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography.

Nutr Metab Cardiovasc Dis 2021 05 3;31(5):1542-1547. Epub 2021 Feb 3.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.

Background And Aims: Novel genetic determinants associated with coronary artery disease (CAD) have been discovered by genome wide association studies. Variants encompassing the CELSR2- PSRC1-SORT1 gene cluster have been associated with CAD. This study is aimed to investigate the rs629301 polymorphism association with the extent of CAD evaluated by coronary angiography (CAG), and to evaluate its associations with an extensive panel of lipid and lipoprotein measurements in a large Italian cohort of 2429 patients. Read More

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Influence of Brain-Derived Neurotrophic Factor Genotype on Short-Latency Afferent Inhibition and Motor Cortex Metabolites.

Brain Sci 2021 Mar 20;11(3). Epub 2021 Mar 20.

Institute for Human Movement and Medical Sciences, Niigata University of Health and Welfare, Niigata City, Niigata 950-3198, Japan.

The Met allele of the brain-derived neurotrophic factor (BDNF) gene confers reduced cortical BDNF expression and associated neurobehavioral changes. BDNF signaling influences the survival, development, and synaptic function of cortical networks. Here, we compared gamma-aminobutyric acid (GABA)ergic network activity in the human primary motor cortex (M1) between the Met (Val/Met and Met/Met) and non-Met (Val/Val) genotype groups. Read More

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Using droplet digital PCR for the detection of hco-acr-8b levamisole resistance marker in H. contortus.

Int J Parasitol Drugs Drug Resist 2021 Apr 26;15:168-176. Epub 2021 Mar 26.

Department of Biomedical Sciences and Veterinary Public Health, Section for Parasitology, Swedish University of Agricultural Sciences, Uppsala, Sweden.

The nematode Haemonchus contortus is one of the most prevalent and pathogenic parasites in small ruminants. Although usually controlled using anthelmintics, the development of drug resistance by the parasite has become a major issue in livestock production. While the molecular detection of benzimidazole resistance in H. Read More

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Atypical Genetic Basis of Pyrazinamide Resistance in Mono-resistant .

Antimicrob Agents Chemother 2021 Mar 15. Epub 2021 Mar 15.

Laboratory for Pathogenesis of Clinical Drug Resistance and Persistence, School of Public Health, San Diego State University, San Diego, CA, USA

Pyrazinamide (PZA) is a widely used antitubercular chemotherapeutic. Typically, PZA resistance (PZA-R) emerges in strains with existing resistance to isoniazid and rifampicin (MDR) and is conferred by loss-of-function mutations that inhibit conversion to its active form, Pyrazinoic acid (POA). PZA-R departing from this canonical scenario is poorly understood. Read More

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Peripheral Markers of Vascular Endothelial Dysfunction Show Independent but Additive Relationships with Brain-Based Biomarkers in Association with Functional Impairment in Alzheimer's Disease.

J Alzheimers Dis 2021 ;80(4):1553-1565

Alzheimer's Disease and Memory Disorders Center, Rhode Island Hospital, Providence, RI, USA.

Background: Cerebrovascular dysfunction confers risk for functional decline in Alzheimer's disease (AD), yet the clinical interplay of these two pathogenic processes is not well understood.

Objective: We utilized Alzheimer's Disease Neuroimaging Initiative (ADNI) data to examine associations between peripherally derived soluble cell adhesion molecules (CAMs) and clinical diagnostic indicators of AD.

Methods: Using generalized linear regression models, we examined cross-sectional relationships of soluble plasma vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule-1 (ICAM-1), and E-Selectin to baseline diagnosis and functional impairment (clinical dementia rating sum-of-boxes, CDR-SB) in the ADNI cohort (n = 112 AD, n = 396 mild cognitive impairment (MCI), n = 58 cognitively normal). Read More

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January 2021

Targeted mutagenesis of two homologous ATP-binding cassette subfamily G (ABCG) genes in tomato confers resistance to parasitic weed Phelipanche aegyptiaca.

J Plant Res 2021 Mar 11. Epub 2021 Mar 11.

Department of Plant Pathology and Weed Research, Newe Ya'ar Research Center, Agricultural Research Organization (ARO), Ramat Yishay, Israel.

Phelipanche aegyptiaca and Orobanche spp. are obligate plant root-parasitic weeds that cause extensive damage in agricultural crop plants. Their germination requires exposure to strigolactones (SLs) exuded by the host plant roots. Read More

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The impacts of cytoplasmic incompatibility factor (cifA and cifB) genetic variation on phenotypes.

Genetics 2021 Mar;217(1):1-13

Department of Biological Sciences, Vanderbilt University, VU Station B, Box 35-1634, Nashville, TN 37235, USA.

Wolbachia are maternally transmitted, intracellular bacteria that can often selfishly spread through arthropod populations via cytoplasmic incompatibility (CI). CI manifests as embryonic death when males expressing prophage WO genes cifA and cifB mate with uninfected females or females harboring an incompatible Wolbachia strain. Females with a compatible cifA-expressing strain rescue CI. Read More

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and Deficiency Sensitizes Ovarian Cancer to Platinum Therapy and Confers Better Prognosis.

Biomedicines 2021 Feb 18;9(2). Epub 2021 Feb 18.

Laboratory of Molecular Pathology, Department of Health Sciences, Università del Piemonte Orientale "A. Avogadro", Via Solaroli 17, 28100 Novara, Italy.

Background: and are three tumor suppressor genes located on chromosome 17 and frequently found deleted, silenced, or mutated in many cancers. These genes are involved in autophagy, apoptosis, and drug resistance in ovarian cancer. Haploinsufficiency or loss-of-function of either , or correlates with enhanced predisposition to cancer development and progression, and chemoresistance. Read More

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February 2021

Single Amino Acid Exchange in ACTIN2 Confers Increased Tolerance to Oxidative Stress in Arabidopsis Mutant.

Int J Mol Sci 2021 Feb 13;22(4). Epub 2021 Feb 13.

Department of Cell Biology, Centre of the Region Haná for Biotechnological and Agricultural Research, Faculty of Science, Palacký University Olomouc, Šlechtitelů 27, 783 71 Olomouc, Czech Republic.

Single-point mutation in the gene of the mutant revealed that ACTIN2 is an essential actin isovariant required for root hair tip growth, and leads to shorter, thinner and more randomly oriented actin filaments in comparison to the wild-type C24 genotype. The actin cytoskeleton has been linked to plant defense against oxidative stress, but it is not clear how altered structural organization and dynamics of actin filaments may help plants to cope with oxidative stress. In this study, we characterized root growth, plant biomass, actin organization and antioxidant activity of the mutant under oxidative stress induced by paraquat and HO. Read More

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February 2021

LRRK2; a dynamic regulator of cellular trafficking.

Brain Res 2021 Mar 2;1761:147394. Epub 2021 Mar 2.

Laboratory of Neurogenetics and Neuroscience, Department of Neurology, University of Florida, Gainesville, FL, USA.

Parkinson's disease (PD) represents the second most common neurodegenerative disorder, characterized clinically by bradykinesia, resting tremor, rigidity and postural instability, and a variety of non-motor features. The etiology of PD is unknown, however genetic, environmental and inflammatory factors may influence disease onset and progression. Genetic variability in leucine-rich repeat kinase 2 confers significant genotypic and population-attributable risk for LRRK2-parkinsonism that is clinically indistinguishable from idiopathic PD. Read More

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CIPK11: a calcineurin B-like protein-interacting protein kinase from Nitraria tangutorum, confers tolerance to salt and drought in Arabidopsis.

BMC Plant Biol 2021 Mar 1;21(1):123. Epub 2021 Mar 1.

Key Laboratory of Forest Genetics & Biotechnology of Ministry of Education, Co-Innovation Center for Sustainable Forestry in Southern China, Nanjing Forestry University, Nanjing, 210037, China.

Background: The CIPKs are a group of plant-specific Ser/Thr protein kinases acting in response to calcium signaling, which plays an important role in the physiological and developmental adaptation of plants to adverse environments. However, the functions of halophyte-derived CIPKs are still poorly understood, that limits a potential application of CIPKs from halophytes for improving the tolerance of glycophytes to abiotic stresses.

Results: In this study, we characterized the NtCIPK11 gene from the halophyte Nitraria tangutorum and subsequently analyzed its role in salt and drought stress tolerance, using Arabidopsis as a transgenic model system. Read More

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Molecular characterization of extended-spectrum β-lactamase-producing isolated from postpartum uterine infection in dairy cattle in India.

Vet World 2021 Jan 23;14(1):200-209. Epub 2021 Jan 23.

Department of Animal Reproduction and Gynecology, College of Veterinary Science and Animal Husbandry, Uttar Pradesh Pandit Deen Dayal Upadhyaya Pashu Chikitsa Vigyan Vishwavidhyalaya Ewam Gau Anusandhan Sansthan Mathura, Uttar Pradesh, India.

Background And Aim: Selection and dissemination of plasmid-encoded extended-spectrum β-lactamase (ESBL) among confers resistance to beta-lactam antibiotics. The purpose of this study was to determine the prevalence and molecular characteristics of ESBL-producing organisms isolated from dairy cattle with a uterine infection.

Materials And Methods: Bacterial isolates (n=62) were characterized by biochemical test for genus and species determination. Read More

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January 2021

CRISPR/Cas9 mediated mutagenesis of MORE AXILLARY GROWTH 1 in tomato confers resistance to root parasitic weed Phelipanche aegyptiaca.

Sci Rep 2021 Feb 16;11(1):3905. Epub 2021 Feb 16.

Department of Plant Pathology and Weed Research, Newe Ya'ar Research Center, Agricultural Research Organization (ARO), Ramat Yishay, Israel.

Root parasitic weeds infect numerous economically important crops, affecting total yield quantity and quality. A lack of an efficient control method limits our ability to manage newly developing and more virulent races of root parasitic weeds. To control the parasite induced damage in most host crops, an innovative biotechnological approach is urgently required. Read More

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February 2021

Genetic insight into sick sinus syndrome.

Eur Heart J 2021 Feb 13. Epub 2021 Feb 13.

deCODE genetics/Amgen, Inc., Sturlugata 8, Reykjavik 101, Iceland.

Aims: The aim of this study was to use human genetics to investigate the pathogenesis of sick sinus syndrome (SSS) and the role of risk factors in its development.

Methods And Results: We performed a genome-wide association study of 6469 SSS cases and 1 000 187 controls from deCODE genetics, the Copenhagen Hospital Biobank, UK Biobank, and the HUNT study. Variants at six loci associated with SSS, a reported missense variant in MYH6, known atrial fibrillation (AF)/electrocardiogram variants at PITX2, ZFHX3, TTN/CCDC141, and SCN10A and a low-frequency (MAF = 1. Read More

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February 2021

The prevalence of human leucocyte antigen and human papillomavirus DNA in penile intraepithelial neoplasia in England 2011-2012.

Int J STD AIDS 2021 Apr 12;32(5):388-395. Epub 2021 Feb 12.

Dermatology Department, University College Hospital, Chelsea and Westminster Hospital, London, UK.

Background: The pathogenesis of penile intraepithelial neoplasia (PeIN) is unclear but human papillomavirus (HPV) infection and polymorphisms in human leucocyte antigen (HLA).

Objectives: To examine the prevalence of HPV DNA and HLA in PeIN.

Methods: Adult Caucasian men with a clinical and histological diagnosis of PeIN, that is, Bowenoid papulosis (BP), Bowen's disease of penis (BDP) and erythroplasia of Queyrat (EQ) were selected and phenotyped from the clinical records. Read More

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A membrane-bound ankyrin repeat protein confers race-specific leaf rust disease resistance in wheat.

Nat Commun 2021 02 11;12(1):956. Epub 2021 Feb 11.

University of Zurich, Department of Plant and Microbial Biology, Zollikerstrasse 107, 8008, Zurich, Switzerland.

Plasma membrane-associated and intracellular proteins and protein complexes play a pivotal role in pathogen recognition and disease resistance signaling in plants and animals. The two predominant protein families perceiving plant pathogens are receptor-like kinases and nucleotide binding-leucine-rich repeat receptors (NLR), which often confer race-specific resistance. Leaf rust is one of the most prevalent and most devastating wheat diseases. Read More

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February 2021

Reacquisition of light-harvesting genes in a marine cyanobacterium confers a broader solar niche.

Curr Biol 2021 Apr 10;31(7):1539-1546.e4. Epub 2021 Feb 10.

Division of Biological Sciences, University of Montana, Missoula, MT, 59812, USA. Electronic address:

The evolution of phenotypic plasticity, i.e., the environmental induction of alternative phenotypes by the same genotype, can be an important mechanism of biological diversification. Read More

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Reduced expression of a subunit gene of sucrose non-fermenting 1 related kinase, PpSnRK1βγ, confers flat fruit abortion in peach by regulating sugar and starch metabolism.

BMC Plant Biol 2021 Feb 10;21(1):88. Epub 2021 Feb 10.

Zhengzhou Fruit Research Institute, Chinese Academy of Agricultural Sciences, Zhengzhou, China.

Background: Fruit abortion is a major limiting factor for fruit production. In flat peach, fruit abortion is present in the whole tree of some accessions during early fruit development. However, the physiological factors and genetic mechanism underlying flat fruit abortion remain largely elusive. Read More

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February 2021

Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency against malaria.

Elife 2021 Feb 5;10. Epub 2021 Feb 5.

Mahidol Oxford Tropical Medicine Research Unit (MORU), Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.

X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The severe Mediterranean variant (G6PD Med) found across Europe and Asia is thought to confer protection against malaria, but its effect is unclear. We fitted a Bayesian statistical model to observed G6PD Med allele frequencies in 999 Pashtun patients presenting with acute malaria and 1408 population controls. Read More

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February 2021

A single gene inherited trait confers metabolic resistance to chlorsulfuron in grain sorghum (Sorghum bicolor).

Planta 2021 Jan 23;253(2):48. Epub 2021 Jan 23.

Department of Agronomy, Kansas State University, Manhattan, KS, USA.

Main Conclusion: This study confirms a high level of metabolic resistance to the herbicide chlorsulfuron, inherited by a single dominant gene in a sorghum genotype (GL-1). Chlorsulfuron, an acetolactate synthase (ALS)-inhibitor, effectively controls post-emergence grass and broadleaf weeds but is not registered for use in sorghum because of crop injury. The objectives of this study were to characterize the inheritance and mechanism of chlorsulfuron resistance in the sorghum genotype GL-1. Read More

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January 2021

Selection for rapid uptake of scarce or fluctuating resource explains vulnerability of glycolysis to imbalance.

PLoS Comput Biol 2021 Jan 19;17(1):e1008547. Epub 2021 Jan 19.

Groningen Institute for Evolutionary Life Sciences, University of Groningen, the Netherlands.

Glycolysis is a conserved central pathway in energy metabolism that converts glucose to pyruvate with net production of two ATP molecules. Because ATP is produced only in the lower part of glycolysis (LG), preceded by an initial investment of ATP in the upper glycolysis (UG), achieving robust start-up of the pathway upon activation presents a challenge: a sudden increase in glucose concentration can throw a cell into a self-sustaining imbalanced state in which UG outpaces LG, glycolytic intermediates accumulate and the cell is unable to maintain high ATP concentration needed to support cellular functions. Such metabolic imbalance can result in "substrate-accelerated death", a phenomenon observed in prokaryotes and eukaryotes when cells are exposed to an excess of substrate that previously limited growth. Read More

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January 2021

Arg206Cys substitution in causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus.

Ann Rheum Dis 2021 Jan 17. Epub 2021 Jan 17.

The Institute of Molecular Medicine, Northwell Health Feinstein Institutes for Medical Research, Manhasset, New York, USA

Objectives: To determine if the polymorphism encoding the Arg206Cys substitution in DNASE1L3 explains the association of the / gene locus with systemic lupus erythematosus (SLE) and to examine the effect of the Arg206Cys sequence change on DNASE1L3 protein function.

Methods: Conditional analysis for rs35677470 was performed on cases and controls with European ancestry from the SLE Immunochip study, and genotype and haplotype frequencies were compared. DNASE1L3 protein levels were measured in cells and supernatants of HEK293 cells and monocyte-derived dendritic cells expressing recombinant and endogenous 206Arg and 206Cys protein variants. Read More

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January 2021

L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.

Am J Transl Res 2020 15;12(12):8040-8049. Epub 2020 Dec 15.

Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University Changsha, Hunan, China.

The (hERG) potassium channel mediates the repolarization of ventricular action potentials. Mutations in the cause long QT syndrome (LQTS) and are associated with cardiac arrhythmias and sudden death. Here, we functionally analyzed a mutation of hERG potassium channel (p. Read More

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December 2020