37,516 results match your criteria phenotypic studies

The phenotypic spectrum associated with OTX2 mutations in humans.

Eur J Endocrinol 2021 May 1. Epub 2021 May 1.

M Dattani, Genetics and Genomic Medicine Research and Teaching Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom of Great Britain and Northern Ireland.

Objective: The transcription factor OTX2 is implicated in ocular, craniofacial, and pituitary development.

Design: We aimed to establish the contribution of OTX2 mutations in congenital hypopituitarism patients with/without eye abnormalities, study functional consequences, and establish OTX2 in the human brain, with a view to investigating the mechanism of action.

Methods: We screened patients from the UK (n=103), international centers (n=24), and Brazil (n=282); 145 were within the septo-optic dysplasia spectrum, and 264 had no eye phenotype. Read More

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Specific MicroRNAs Found in Extracellular Matrix Vesicles Regulate Proliferation and Differentiation in Growth Plate Chondrocytes.

Calcif Tissue Int 2021 May 5. Epub 2021 May 5.

College of Engineering, Virginia Commonwealth University, 601 W. Main Street, Richmond, VA, 23284, USA.

Matrix vesicles (MVs) are extracellular organelles produced by growth plate cartilage cells in a zone-specific manner. MVs are similar in size to exosomes, but they are tethered to the extracellular matrix (ECM) via integrins. Originally associated with matrix calcification, studies now show that they contain matrix processing enzymes and microRNA that are specific to their zone of maturation. Read More

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Treatment for diabetic peripheral neuropathy: What have we learned from animal models?

Mark Yorek

Curr Diabetes Rev 2021 May 3. Epub 2021 May 3.

Department of Internal Medicine, University of Iowa, Iowa City, IA, 52242 . United States.

Introduction: Animal models have been widely used to investigate the etiology and potential treatments for diabetic peripheral neuropathy. What we have learned from these studies and the extent that this information has been adaptable to the human condition will be the subject of this review article.

Methods: A comprehensive search of the PubMed database was performed, and relevant articles on the topic were included in this review. Read More

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Advances in Drug Discovery against Neglected Tropical Diseases: Human African and American Trypanosomiasis.

Curr Med Chem 2021 May 3. Epub 2021 May 3.

Medicinal Chemistry Research Laboratory, Department of Chemistry, Jamia Millia Islamia, Jamia Nagar, New Delhi-110025, India.

Human African and American trypanosomiasis are the vector-borne parasitic diseases that have killed millions of people early, and many people are still suffering from these neglected diseases. The causative agents of these infections are parasitic protozoans of the genus Trypanosoma. Current treatment regimens against these endemic diseases have several limitations in terms of safety, efficacy, route of administration, and some of them have lost efficacy due to the emergence of resistance in their respective parasites. Read More

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Systems biology for crop improvement.

Plant Genome 2021 May 5:e20098. Epub 2021 May 5.

Center of Excellence in Genomics & Systems Biology, International Crops Research Institute for the Semi-Arid Tropics (ICRISAT), Patancheru, Hyderabad, 502 324, India.

In recent years, generation of large-scale data from genome, transcriptome, proteome, metabolome, epigenome, and others, has become routine in several plant species. Most of these datasets in different crop species, however, were studied independently and as a result, full insight could not be gained on the molecular basis of complex traits and biological networks. A systems biology approach involving integration of multiple omics data, modeling, and prediction of the cellular functions is required to understand the flow of biological information that underlies complex traits. Read More

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Alginate/chitosan modified immunomodulatory titanium implants for promoting osteogenesis in vitro and in vivo.

Mater Sci Eng C Mater Biol Appl 2021 May 31;124:112087. Epub 2021 Mar 31.

Key Laboratory of Advanced Technology for Materials (Ministry of Education), School of Materials Science and Engineering, Southwest Jiaotong University, Chengdu 610031, China. Electronic address:

The essentiality of macrophages for biomaterial-mediated osteogenesis has been increasingly recognized. However, it is still unclear what is the specific role and molecular mechanisms of macrophages and material properties in the regulation of osteogenesis. As an interdisciplinary field exploring the cross-talk between immune and skeletal systems, osteoimmunology has shifted the perspective of bone substitute materials from immunosuppressive materials to immunomodulatory materials. Read More

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Weapons Evolve Faster Than Sperm in Bovids and Cervids.

Cells 2021 Apr 29;10(5). Epub 2021 Apr 29.

Department of Zoology, Stockholm University, Svante Arrhenius väg 18b, 106 91 Stockholm, Sweden.

In polyandrous species, males face reproductive competition both before and after mating. Sexual selection thus shapes the evolution of both pre- and postcopulatory traits, creating competing demands on resource allocation to different reproductive episodes. Traits subject to strong selection exhibit accelerated rates of phenotypic divergence, and examining evolutionary rates may inform us about the relative importance and potential fitness consequences of investing in traits under either pre- or postcopulatory sexual selection. Read More

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Neutrophils in Tuberculosis: Cell Biology, Cellular Networking and Multitasking in Host Defense.

Int J Mol Sci 2021 Apr 30;22(9). Epub 2021 Apr 30.

Institute of Immunology, Friedrich-Loeffler-Institut, 17493 Greifswald-Insel Riems, Germany.

Neutrophils readily infiltrate infection foci, phagocytose and usually destroy microbes. In tuberculosis (TB), a chronic pulmonary infection caused by (), neutrophils harbor bacilli, are abundant in tissue lesions, and their abundances in blood correlate with poor disease outcomes in patients. The biology of these innate immune cells in TB is complex. Read More

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Do Microplastics Enter Our Food Chain Via Root Vegetables? A Raman Based Spectroscopic Study on .

Materials (Basel) 2021 Apr 30;14(9). Epub 2021 Apr 30.

Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology-Hellas, N. Plastira 100, GR-70013 Heraklion, Greece.

The outburst of plastic pollution in terrestrial ecosystems poses a potential threat to agriculture and food safety. Studies have already provided evidence for the uptake of plastic microparticles by several plant species, accompanied by numerous developmental effects, using fluorescence labelling techniques. Here, we introduce the implementation of confocal Raman spectroscopy, a label-free method, for the effective detection of microplastics (MPs) accumulation in the roots of a common edible root vegetable plant, , after treatment with acrylonitrile butadiene styrene (ABS) powder. Read More

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Roseomonas hellenica sp. nov., isolated from roots of wild-growing Alkanna tinctoria.

Syst Appl Microbiol 2021 Apr 17;44(3):126206. Epub 2021 Apr 17.

Laboratory of Microbiology, Dept. Biochemistry and Microbiology, Fac. Sciences, Ghent University, Gent, Belgium.

Two Gram-negative, aerobic, rod-shaped and yellow-orange pigmented bacterial strains (LMG 31523 and LMG 31524) were isolated from roots of wild-growing Alkanna tinctoria plants collected near Thessaloniki, Greece. Analysis of their 16S rRNA gene sequences revealed that they form a separate cluster related to the genus Roseomonas. A comparative whole genome analysis of the two strains and the type strains of related Roseomonas species revealed average nucleotide identity values from 78. Read More

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SPATS1 (spermatogenesis-associated, serine-rich 1) is not essential for spermatogenesis and fertility in mouse.

PLoS One 2021 4;16(5):e0251028. Epub 2021 May 4.

Department of Molecular Biology, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay.

SPATS1 (spermatogenesis-associated, serine-rich 1) is an evolutionarily conserved, testis-specific protein that is differentially expressed during rat male meiotic prophase. Some reports have suggested a link between SPATS1 underexpression/mutation and human pathologies such as male infertility and testicular cancer. Given the absence of functional studies, we generated a Spats1 loss-of-function mouse model using CRISPR/Cas9 technology. Read More

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Genome wide association study for the identification of genes associated with tail fat deposition in Chinese sheep breeds.

Biol Open 2021 May 4;10(5). Epub 2021 May 4.

College of Animal Science and Technology, Gansu Agricultural University, Lanzhou 730070, China.

Chinese indigenous sheep can be classified into three types based on tail morphology: fat-tailed, fat-rumped, and thin-tailed sheep, of which the typical breeds are large-tailed Han sheep, Altay sheep, and Tibetan sheep, respectively. To unravel the molecular genetic basis underlying the phenotypic differences among Chinese indigenous sheep with these three different tail types, we used ovine high-density 600K single nucleotide polymorphism (SNP) arrays to detect genome-wide associations, and performed general linear model analysis to identify candidate genes, using genotyping technology to validate the candidate genes. Tail type is an important economic trait in sheep. Read More

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Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants.

Hum Mutat 2021 May 3. Epub 2021 May 3.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Charleroi, Gosselies, Belgium.

Mental deficiency, epilepsy, hypogonadism, microcephaly and obesity (MEHMO) syndrome is a severe X-linked syndrome caused by pathogenic variants in EIF2S3. The gene encodes the γ subunit of the eukaryotic translation initiation factor-2, eIF2, essential for protein translation. A recurrent frameshift variant is described in severely affected patients while missense variants usually cause a moderate phenotype. Read More

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Phenotypic plasticity is not a cline: thermal physiology of an intertidal barnacle over 20 degrees of latitude.

J Anim Ecol 2021 May 3. Epub 2021 May 3.

Universidad Adolfo Ibáñez, Departamento de Ciencias, Facultad de Artes Liberales, Santiago & Viña del Mar, Chile.

Our understanding of the plastic and evolutionary potential of ectothermic organisms and their populational impacts in the face of rapid global change remains limited. Studies attempting on the relationship between the magnitude of thermal variability across latitude and the degree of phenotypic plasticity exhibited by marine ectotherms are inconclusive. We state that the latter arises from the narrow range of thermal variability captured by the limited span of the latitudinal gradients studied to date. Read More

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Differential levels of IFNα subtypes in autoimmunity and viral infection.

Cytokine 2021 Apr 30:155533. Epub 2021 Apr 30.

Translational Immunology Lab, Institut Pasteur, Paris, France. Electronic address:

Type I interferons are essential for host response to viral infections, while dysregulation of their response can result in autoinflammation or autoimmunity. Among IFNα (alpha) responses, 13 subtypes exist that signal through the same receptor, but have been reported to have different effector functions. However, the lack of available tools for discriminating these closely related subtypes, in particular at the protein level, has restricted the study of their differential roles in disease. Read More

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The integrative biology of pigment organelles, a quantum chemical approach.

Integr Comp Biol 2021 May 3. Epub 2021 May 3.

Institut de Recherche sur la Biologie de l'Insecte, UMR 7261, CNRS-Université de Tours, 37200 Tours, France.

Coloration is a complex phenotypic trait involving both physical and chemical processes at a multiscale level, from molecules to tissues. Pigments, whose main property is to absorb specific wavelengths of visible light, are usually deposited in specialized organelles or complex matrices comprising proteins, metals, ions and redox compounds, among others. By modulating electronic properties and stability, interactions between pigments and these molecular actors can lead to color tuning. Read More

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Unraveling the impact of plant-density genetic architecture on agronomic traits in canola.

J Exp Bot 2021 May 3. Epub 2021 May 3.

IFEVA (CONICET-UBA), Facultad de Agronomía, Universidad de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina.

Plant density defines vegetative architecture and competition for light between individuals. Brassica napus (canola), as a model system of indeterminate growth, presents a radically different plant architecture compared to traditional crops commonly cultivated at high density. Using a panel of 152 spring-type canola accessions and a double haploid (DH) population of 99 lines from a cross between Lynx and Monty, we performed Genome-Wide-Analysis-Studies (GWAS) and Quantitative Trait Locus (QTL) mapping for 12 growth and yield traits at two contrasting plant densities (15 and 60 plants m -2). Read More

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Elaborating on the longitudinal measurement invariance and construct validity of the triarchic psychopathy scales from the Multidimensional Personality Questionnaire.

Psychol Assess 2021 May 3. Epub 2021 May 3.

Center for Education and Drug Abuse Research.

Because the construct of psychopathy is of chief interest across different disciplines, spanning developmental, clinical, and forensic psychology, its assessment bears far-reaching implications. One prominent contemporary conceptualization of psychopathy, the Triarchic Model, posits that a psychopathic personality encompasses three phenotypic constructs: boldness, meanness, and disinhibition. Recently, triarchic scales have been derived based on items from the Multidimensional Personality Questionnaire (MPQ), and the psychometric characteristics of this approach (MPQ-triarchic [MPQ-Tri]) are promising. Read More

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Bioprinting of Human Cord Blood-Derived CD34+ Cells and Exploration of the Multilineage Differentiation Ability in Vitro.

ACS Biomater Sci Eng 2021 May 3. Epub 2021 May 3.

Biomanufacturing and Rapid Forming Technology Key Laboratory of Beijing, Department of Mechanical Engineering, Tsinghua University, Beijing 100084, People's Republic of China.

The three-dimensional (3D) marrow microenvironment plays an essential role in regulating human cord blood-derived CD34+ cells (hCB-CD34+) migration, proliferation, and differentiation. Extensive in vitro and in vivo studies have aimed to recapitulate the main components of the bone marrow (BM) niche. Nonetheless, the models are limited by a lack of heterogeneity and compound structure. Read More

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High-Yield Human Induced Pluripotent Stem Cell-Derived Monocytes and Macrophages Are Functionally Comparable With Primary Cells.

Front Cell Dev Biol 2021 13;9:656867. Epub 2021 Apr 13.

Boehringer Ingelheim Pharma GmbH & Co. KG, Cancer Immunology and Immune Modulation, Biberach an der Riss, Germany.

Macrophages are pivotal effectors of host immunity and regulators of tissue homeostasis. Understanding of human macrophage biology has been hampered by the lack of reliable and scalable models for cellular and genetic studies. Human induced pluripotent stem cell (hiPSC)-derived monocytes and macrophages, as an unlimited source of subject genotype-specific cells, will undoubtedly play an important role in advancing our understanding of macrophage biology and implication in human diseases. Read More

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ORAI1 Ca Channel as a Therapeutic Target in Pathological Vascular Remodelling.

Front Cell Dev Biol 2021 6;9:653812. Epub 2021 Apr 6.

School of Medicine, The Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, United Kingdom.

In the adult, vascular smooth muscle cells (VSMC) are normally physiologically quiescent, arranged circumferentially in one or more layers within blood vessel walls. Remodelling of native VSMC to a proliferative state for vascular development, adaptation or repair is driven by platelet-derived growth factor (PDGF). A key effector downstream of PDGF receptors is store-operated calcium entry (SOCE) mediated through the plasma membrane calcium ion channel, ORAI1, which is activated by the endoplasmic reticulum (ER) calcium store sensor, stromal interaction molecule-1 (STIM1). Read More

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Transcriptome Signatures Predict Phenotypic Variations of .

Front Cell Infect Microbiol 2021 14;11:662563. Epub 2021 Apr 14.

Max Perutz Labs Vienna, Department of Medical Biochemistry, Medical University of Vienna, Vienna, Austria.

Health care facilities are facing serious threats by the recently emerging human fungal pathogen owing to its pronounced antifungal multidrug resistance and poor diagnostic tools. Distinct clades evolved seemingly simultaneously at independent geographical locations and display both genetic and phenotypic diversity. Although comparative genomics and phenotypic profiling studies are increasing, we still lack mechanistic knowledge about the species diversification and clinical heterogeneity. Read More

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Variable Effects of PD-Risk Associated SNPs and Variants in Parkinsonism-Associated Genes on Disease Phenotype in a Community-Based Cohort.

Front Neurol 2021 14;12:662278. Epub 2021 Apr 14.

Department of Neurology, Tulane University, New Orleans, LA, United States.

Genetic risk factors for Parkinson's disease (PD) risk and progression have been identified from genome-wide association studies (GWAS), as well as studies of familial forms of PD, implicating common variants at more than 90 loci and pathogenic or likely pathogenic variants at 16 loci. With the goal of understanding whether genetic variants at these PD-risk loci/genes differentially contribute to individual clinical phenotypic characteristics of PD, we used structured clinical documentation tools within the electronic medical record in an effort to provide a standardized and detailed clinical phenotypic characterization at the point of care in a cohort of 856 PD patients. We analyzed common SNPs identified in previous GWAS studies, as well as low-frequency and rare variants at parkinsonism-associated genes in the MDSgene database for their association with individual clinical characteristics and test scores at baseline assessment in our community-based PD patient cohort: age at onset, disease duration, Unified Parkinson's Disease Rating Scale I-VI, cognitive status, initial and baseline motor and non-motor symptoms, complications of levodopa therapy, comorbidities and family history of neurological disease with one or more than one affected family members. Read More

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Protective Effect of Pre-treatment Against Experimental Cerebral Ischemia Injury via Regulating GSK-3β/HO-1 Pathway.

Front Pharmacol 2021 16;12:640297. Epub 2021 Apr 16.

Department of Biology, Faculty of Science, Hong Kong Baptist University (HKBU), Hong Kong Special Administrative Region (HKSAR), Kowloon Tong, China.

() a famous formula in traditional Chinese medicine, has been clinically used for centuries for treating cerebral diseases, but the protective effects of pre-treatment with on cerebral ischemia have not yet been reported. The present study aimed to test such protective effects and elucidate the underlying mechanisms on cerebral ischemia in rats by phenotypic approaches (i.e. Read More

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CRISPR-based genome editing of zebrafish.

Prog Mol Biol Transl Sci 2021 12;180:69-84. Epub 2021 Mar 12.

Department of Zoology, Biomedical Technology & Human Genetics, University School of Sciences, Gujarat University, Ahmedabad, Gujarat, India.

CRISPR/Cas9, once discovered as an adaptive immune system in bacteria, has emerged as a disruptive technology in the field of genetic engineering. Technological advancements in the recent past has enhanced the applicability of CRISPR/Cas9 tool for gene editing, gene therapies, developmental studies and mutational analysis in various model organisms. Zebrafish, one of the excellent animal models, is preferred for conducting CRISPR/Cas9 studies to assess the functional implication of specific genes of interest. Read More

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Cell-cell and cell-substratum contacts in the regulation of MAPK and Akt signalling: Importance in therapy, biopharmacy and bioproduction.

Cell Signal 2021 Apr 29:110034. Epub 2021 Apr 29.

Dept. of Molecular Cell Biology, Institute of Biochemistry, Life Sciences Centre, Vilnius University, Saulėtekio al. 7, LT-10257, Lithuania. Electronic address:

The use of cultured cells as a tool for research, precision medicine, biopharmacy, and biomanufacturing is constantly increasing. In parallel, the role of cell-cell and cell-substratum contacts in cell functioning is increasingly validated. Adhesion signalling plays a key role here. Read More

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An influenza A(H5N8) virus isolated during an outbreak at a poultry farm in Russia in 2017 has an N294S substitution in the neuraminidase and shows reduced susceptibility to oseltamivir.

Antiviral Res 2021 Apr 29:105079. Epub 2021 Apr 29.

- State Research Center of Virology and Biotechnology "Vector" Rospotrebnadzor, Koltsovo, Novosibirsk Region, 630559, Russian Federation.

This study aimed to assess the antiviral susceptibility of influenza A(H5N8) viruses isolated in Russia in 2014-2018. Genetic analysis of 57 Russian isolates with full genome sequences did not find any markers of reduced susceptibility to baloxavir. Only one strain bore an amino acid substitution associated with adamantane resistance (M2-S31N). Read More

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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.


Am J Hum Genet 2021 Apr 28. Epub 2021 Apr 28.

Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Read More

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Misinterpreting the adaptive value of phenotypic plasticity in studies on plant adaptation to new and variable environments.

Stephen P Bonser

Plant Biol (Stuttg) 2021 May 1. Epub 2021 May 1.

Evolution and Ecology Research Centre, School of Biological, Earth and Environmental Sciences, UNSW Sydney, Sydney, NSW, 2052, Australia.

Phenotypic plasticity is an important mechanism for plant adaptation to variable environments, and plant responses to changing climates. However, plasticity in fitness or performance traits (i.e. Read More

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Interaction of gibberellin and other hormones in almond anthers: phenotypic and physiological changes and transcriptomic reprogramming.

Hortic Res 2021 May 1;8(1):94. Epub 2021 May 1.

College of Forestry and Horticulture, Xinjiang Agricultural University, Urumqi, 830052, China.

Low temperature causes anther dysfunction, severe pollen sterility and, ultimately, major yield losses in crop plants. Previous studies have shown that the gibberellic acid (GA) metabolic pathway plays an important role in this process by regulating tapetum function and pollen development. However, the interaction mechanism of GA with other hormones mediating anther development is still unclear. Read More

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