1,707,198 results match your criteria journal genetic

Gastrointestinal Tract Lymphomas: A Review of the Most Commonly Encountered Lymphomas.

Arch Pathol Lab Med 2021 Apr 9. Epub 2021 Apr 9.

From the Department of Pathology, Division of Hematopathology, Division of Gastrointestinal Pathology, University of Miami Miller School of Medicine, Sylvester Comprehensive Cancer Center and Jackson Memorial Hospital, Miami, Florida (Alvarez-Lesmes, Chapman, Cassidy, Zhou, Garcia-Buitrago, Montgomery, Poveda).

Context.—: The gastrointestinal (GI) tract is the most common site of extranodal non-Hodgkin lymphoma, accounting for 20% to 40% of all extranodal lymphomas. The majority of these are systemic processes secondarily involving the GI tract. Read More

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Animal Models of COVID-19. I. Comparative Virology and Disease Pathogenesis.

ILAR J 2021 Apr 9. Epub 2021 Apr 9.

Department of Comparative Medicine, John Hopkins School of Medicine, Baltimore, Maryland, USA.

The Coronavirus Disease 2019 (COVID-19) pandemic has fueled unprecedented development of animal models to understand disease pathogenesis, test therapeutics, and support vaccine development. Models previously developed to study severe acute respiratory syndrome coronavirus (SARS-CoV) have been rapidly deployed to study SARS-CoV-2. However, it has become clear that despite the common use of ACE2 as a receptor for both viruses, the host range of the 2 viruses does not entirely overlap. Read More

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Association Between Specific Childhood Adversities and Symptom Dimensions in People With Psychosis: Systematic Review and Meta-Analysis.

Schizophr Bull 2021 Apr 9. Epub 2021 Apr 9.

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

Despite the accepted link between childhood abuse and positive psychotic symptoms, findings between other adversities, such as neglect, and the remaining dimensions in people with psychosis have been inconsistent, with evidence not yet reviewed quantitatively. The aim of this study was to systematically examine quantitatively the association between broadly defined childhood adversity (CA), abuse (sexual/physical/emotional), and neglect (physical/emotional) subtypes, with positive, negative, depressive, manic, and disorganized dimensions in those with psychosis. A search was conducted across EMBASE, MEDLINE, PsychINFO, and Cochrane Libraries using search terms related to psychosis population, CA, and psychopathological dimensions. Read More

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Towards similarity-based differential diagnostics for common diseases.

Comput Biol Med 2021 Apr 1;133:104360. Epub 2021 Apr 1.

College of Medical and Dental Sciences, Institute of Cancer and Genomic Sciences, University of Birmingham, UK; Institute of Translational Medicine, University Hospitals Birmingham, NHS Foundation Trust, UK; NIHR Experimental Cancer Medicine Centre, UK; NIHR Surgical Reconstruction and Microbiology Research Centre, UK; NIHR Biomedical Research Centre, UK; MRC Health Data Research UK (HDR UK) Midlands, UK; University Hospitals Birmingham NHS Foundation Trust, Edgbaston, Birmingham, UK.

Ontology-based phenotype profiles have been utilised for the purpose of differential diagnosis of rare genetic diseases, and for decision support in specific disease domains. Particularly, semantic similarity facilitates diagnostic hypothesis generation through comparison with disease phenotype profiles. However, the approach has not been applied for differential diagnosis of common diseases, or generalised clinical diagnostics from uncurated text-derived phenotypes. Read More

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Structural features of five types of maize starch granule subgroups sorted by flow cytometry.

Food Chem 2021 Mar 22;356:129657. Epub 2021 Mar 22.

Key Laboratory of Biology and Genetic Improvement of Maize in Arid Area of Northwest Region, Ministry of Agriculture, College of Agronomy, Northwest A&F University, Yangling Shaanxi 712100, China. Electronic address:

Subgroups of starch granules from five maize phenotypes including waxy-, normal-, popcorn-, sweet corn- and high-amylose maize were sorted by flow cytometry (FC) utilizing the side scatter channel (SSC) and forward scatter channel (FSC). SSC and FSC mainly reflecting internal object complexity, and object size, respectively. Subgroups with higher FSC signal always showed higher SSC signal, indicating larger granules exhibited higher internal structural complexity. Read More

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A C-terminal fragment of Arabidopsis OXIDATIVE STRESS 2 can play a positive role in salt tolerance.

Biochem Biophys Res Commun 2021 Apr 6;556:23-30. Epub 2021 Apr 6.

Plant Gene Engineering Center, Chinese Academy of Sciences Key Laboratory of South China Agricultural Plant Molecular Analysis and Genetic Improvement, Guangdong Key Laboratory of Applied Botany, South China Botanical Garden, Chinese Academy of Sciences, Guangzhou, 510650, China. Electronic address:

The zinc finger transcription factor OXIDATIVE STRESS 2 (OXS2) was previously reported to be involved in oxidative stress tolerance and stress escape. Here we report that an Arabidopsis oxs2-1 mutant is also more sensitive to salt stress. Conversely, the overproduction of a C-terminal fragment of OXS2, the 'AT3' fragment, can enhance salt tolerance in Arabidopsis by upregulating the transcription of at least six salt-induced genes: COR15A, COR47, RD29B, KIN1, ACS2 and ACS6. Read More

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Spread of antibiotic resistance genes and microbiota in airborne particulate matter, dust, and human airways in the urban hospital.

Environ Int 2021 Apr 6;153:106501. Epub 2021 Apr 6.

Institute of Environmental Technology, College of Environmental and Resource Sciences, Zhejiang University, Hangzhou 310058, China. Electronic address:

Antimicrobial resistance is an increasingly serious threat to public health worldwide. The presence of antibiotic resistance genes (ARGs) in human airways and relevant environments has not received significant attention. In this study, abundances of ARGs and microbes from airborne particulate matter, dust, and human airways in a hospital were profiled using high-throughput qPCR and 16S rRNA gene sequencing. Read More

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Management of BRAF-mutant metastatic colorectal cancer: a review of treatment options and evidence-based guidelines.

Ann Oncol 2021 Apr 6. Epub 2021 Apr 6.

Vall d'Hebron Hospital Campus, Vall d'Hebron Institute of Oncology, UVIC-UCC, IOB-Quiron, Barcelona, Spain. Electronic address:

Background: Colorectal cancer (CRC) is still a leading cause of cancer-related deaths in the United States and worldwide, despite recent improvements in cancer management. CRC, like many malignancies, is a heterogeneous disease, with subtypes characterized by genetic alterations. One common mutation in CRC is in the BRAF gene (most commonly V600E substitution). Read More

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Connections between endoplasmic reticulum stress-associated unfolded protein response, mitochondria, and autophagy in arsenic-induced carcinogenesis.

Semin Cancer Biol 2021 Apr 6. Epub 2021 Apr 6.

Department of Pharmaceutical Sciences, Eugene Applebaum College of Pharmacy and Health Sciences, Wayne State University, 259 Mack Avenue, Detroit, MI, 48201, USA. Electronic address:

Arsenic exposure in contaminated drinking water is a global health issue, as more than 200 million people are affected globally. Arsenic has been known to cause skin, liver, lung, bladder and prostate cancers. Accordingly, it has been categorized as a group I human carcinogen by the International Agency for Research on Cancer (IARC). Read More

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The effects of maternal SSRI exposure on the serotonin system, prefrontal protein expression and behavioral development in male and female offspring rats.

Neurochem Int 2021 Apr 6:105041. Epub 2021 Apr 6.

School of Rehabilitation, Kunming Medical University, Kunming, China. Electronic address:

Fluoxetine (FLX), a commonly used selective serotonin reuptake inhibitor, is often used to treat depression during pregnancy. However, prenatal exposure to FLX has been associated with a series of neuropsychiatric illnesses. The use of a rodent model can provide a clear indication as to whether prenatal exposure to SSRIs, independent of maternal psychiatric disorders or genetic syndromes, can cause long-term behavioral abnormalities in offspring. Read More

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Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome - A Cross-sectional Investigation.

J Pediatr 2021 Apr 6. Epub 2021 Apr 6.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address:

Objectives: To prospectively quantify bleeding severity and elaborate hemorrhagic symptoms in children with 22q11.2 deletion syndrome (22q11DS) using two validated bleeding-assessment-tools (BATs), namely the pediatric bleeding questionnaire (PBQ) and the International Society on Thrombosis and Hemostasis BAT (ISTH-BAT). We additionally sought to compare subjects' bleeding scores to unaffected first-degree family members. Read More

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Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes.

Am J Hum Genet 2021 Apr 7. Epub 2021 Apr 7.

Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA; Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA; Graduate School of Data Science, Seoul National University, Seoul 08826, Republic of Korea. Electronic address:

In genome-wide association studies, ordinal categorical phenotypes are widely used to measure human behaviors, satisfaction, and preferences. However, because of the lack of analysis tools, methods designed for binary or quantitative traits are commonly used inappropriately to analyze categorical phenotypes. To accurately model the dependence of an ordinal categorical phenotype on covariates, we propose an efficient mixed model association test, proportional odds logistic mixed model (POLMM). Read More

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Generation of Murine Bone Marrow and Fetal Liver Chimeras.

Curr Protoc 2021 Apr;1(4):e79

Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia.

The generation of radiation chimeras allows researchers to substitute the hematopoietic system of a mouse with that of one or more donors. A suspension of hematopoietic stem cells (HSCs) is prepared from the bone marrow (BM) or the fetal liver (FL) of a donor mouse and adoptively transferred into an irradiated recipient. Within days, the donor's HSCs will engraft, and their progeny will quickly replace the blood cells of the recipient. Read More

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Differential Inhibition of LRRK2 in Parkinson's Disease Patient Blood by a G2019S Selective LRRK2 Inhibitor.

Mov Disord 2021 Feb 11. Epub 2021 Feb 11.

ESCAPE Bio, Inc., South San Francisco, California, USA.

Background: A common genetic mutation that causes Parkinson's disease (PD) is the G2019S LRRK2 mutation. A precision medicine approach that selectively blocks only excess kinase activity of the mutant allele could yield a safe and effective treatment for G2019S LRRK2 PD.

Objective: To determine the activity of a G2019S mutant selective leucine-rich repeat kinase 2 (LRRK2) kinase inhibitor as compared to a nonselective inhibitor in blood of subjects with genetic and idiopathic PD on two LRRK2 biomarkers, pSer935 LRRK2 and pThr73 Rab10. Read More

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February 2021

Seed coat mucilages: Structural, functional/bioactive properties, and genetic information.

Compr Rev Food Sci Food Saf 2021 Apr 9. Epub 2021 Apr 9.

Guelph Research and Development Centre, Agri- and Agri-food Canada, Guelph, Ontario, Canada.

Seed coat mucilages are mainly polysaccharides covering the outer layer of the seeds to facilitate seed hydration and germination, thereby improving seedling emergence and reducing seedling mortality. Four types of polysaccharides are found in mucilages including xylan, pectin, glucomannan, and cellulose. Recently, mucilages from flaxseed, yellow mustard seed, chia seed, and so on, have been used extensively in the areas of food, pharmaceutical, and cosmetics contributing to stability, texture, and appearance. Read More

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Ablation of Mto1 in zebrafish exhibited hypertrophic cardiomyopathy manifested by mitochondrion RNA maturation deficiency.

Nucleic Acids Res 2021 Apr 9. Epub 2021 Apr 9.

Division of Medical Genetics and Genomics, The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou, Zhejiang 310058, China.

Deficient maturations of mitochondrial transcripts are linked to clinical abnormalities but their pathophysiology remains elusive. Previous investigations showed that pathogenic variants in MTO1 for the biosynthesis of τm5U of tRNAGlu, tRNAGln, tRNALys, tRNATrp and tRNALeu(UUR) were associated with hypertrophic cardiomyopathy (HCM). Using mto1 knock-out(KO) zebrafish generated by CRISPR/Cas9 system, we demonstrated the pleiotropic effects of Mto1 deficiency on mitochondrial RNA maturations. Read More

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Myod1 and GR coordinate myofiber-specific transcriptional enhancers.

Nucleic Acids Res 2021 Apr 9. Epub 2021 Apr 9.

Université de Strasbourg, CNRS UMR7104, INSERM U1258, IGBMC, F-67400 Illkirch, France.

Skeletal muscle is a dynamic tissue the size of which can be remodeled through the concerted actions of various cues. Here, we investigated the skeletal muscle transcriptional program and identified key tissue-specific regulatory genetic elements. Our results show that Myod1 is bound to numerous skeletal muscle enhancers in collaboration with the glucocorticoid receptor (GR) to control gene expression. Read More

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Suppression of liquid-liquid phase separation by 1,6-hexanediol partially compromises the 3D genome organization in living cells.

Nucleic Acids Res 2021 Apr 9. Epub 2021 Apr 9.

Institute of Gene Biology Russian Academy of Science, 119334 Moscow, Russia.

Liquid-liquid phase separation (LLPS) contributes to the spatial and functional segregation of molecular processes within the cell nucleus. However, the role played by LLPS in chromatin folding in living cells remains unclear. Here, using stochastic optical reconstruction microscopy (STORM) and Hi-C techniques, we studied the effects of 1,6-hexanediol (1,6-HD)-mediated LLPS disruption/modulation on higher-order chromatin organization in living cells. Read More

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Histone deacetylases control lysine acetylation of ribosomal proteins in rice.

Nucleic Acids Res 2021 Apr 9. Epub 2021 Apr 9.

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

Lysine acetylation (Kac) is well known to occur in histones for chromatin function and epigenetic regulation. In addition to histones, Kac is also detected in a large number of proteins with diverse biological functions. However, Kac function and regulatory mechanism for most proteins are unclear. Read More

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Large-Scale Phenomic and Genomic Analysis of Brain Asymmetrical Skew.

Cereb Cortex 2021 Apr 9. Epub 2021 Apr 9.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen 6525 XD, The Netherlands.

The human cerebral hemispheres show a left-right asymmetrical torque pattern, which has been claimed to be absent in chimpanzees. The functional significance and developmental mechanisms are unknown. Here, we carried out the largest-ever analysis of global brain shape asymmetry in magnetic resonance imaging data. Read More

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Adaptation to the dietary sugar D-tagatose via genome instability in polyploid Candida albicans cells.

G3 (Bethesda) 2021 Apr 9. Epub 2021 Apr 9.

Department of Molecular Microbiology and Immunology, Brown University, Providence, RI 02912, USA.

The opportunistic fungal pathogen Candida albicans undergoes an unusual parasexual cycle wherein diploid cells mate to form tetraploid cells that can generate genetically diverse progeny via a non-meiotic program of chromosome loss. The genetic diversity afforded by parasex impacts clinically relevant features including drug resistance and virulence, and yet the factors influencing genome instability in C. albicans are not well defined. Read More

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Mapping of a major QTL controlling plant height using a high-density genetic map and QTL-seq methods based on whole-genome resequencing in Brassica napus.

G3 (Bethesda) 2021 Apr 9. Epub 2021 Apr 9.

Oil Crops Research Institute of the Chinese Academy of Agricultural Sciences/The Key Laboratory of Biology and Genetic Improvement of Oil Crops, The Ministry of Agriculture and Rural Affairs, Wuhan 430062, P. R. China.

Plant height is a crucial element related to plant architecture that influences the seed yield of oilseed rape (Brassica napus L.). In this study, we isolated a natural B. Read More

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Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital.

Arch Pathol Lab Med 2021 Apr 9. Epub 2021 Apr 9.

From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson).

Context.—: Genomic molecular testing practices in a pediatric tertiary care institution.

Objective. Read More

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Potential mammalian species for investigating the past connections between Amazonia and the Atlantic Forest.

PLoS One 2021 9;16(4):e0250016. Epub 2021 Apr 9.

Phylogenetic and Functional Ecology Lab (LEFF), Post-Graduation Programme in Ecology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil.

Much evidence suggests that Amazonia and the Atlantic Forest were connected through at least three dispersion routes in the past: the Eastern route, the central route, and the Western route. However, few studies have assessed the use of these routes based on multiple species. Here we present a compilation of mammal species that potentially have dispersed between the two forest regions and which may serve to investigate these connections. Read More

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Effects of TNFα receptor TNF-Rp55- or TNF-Rp75- deficiency on corneal neovascularization and lymphangiogenesis in the mouse.

PLoS One 2021 9;16(4):e0245143. Epub 2021 Apr 9.

Department of Ophthalmology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt- Universität zu Berlin and Berlin Institute of Health, Berlin, Germany.

Tumor necrosis factor (TNF)α is an inflammatory cytokine likely to be involved in the process of corneal inflammation and neovascularization. In the present study we evaluate the role of the two receptors, TNF-receptor (TNF-R)p55 and TNF-Rp75, in the mouse model of suture-induced corneal neovascularization and lymphangiogenesis. Corneal neovascularization and lymphangiogenesis were induced by three 11-0 intrastromal corneal sutures in wild-type (WT) C57BL/6J mice and TNF-Rp55-deficient (TNF-Rp55d) and TNF-Rp75-deficient (TNF-Rp75d) mice. Read More

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CRISPR/Cas: a Nobel Prize award-winning precise genome editing technology for gene therapy and crop improvement.

J Zhejiang Univ Sci B 2021 Apr;22(4):253-284

Department of Biology, East Carolina University, Greenville, NC 27858, USA.

Since it was first recognized in bacteria and archaea as a mechanism for innate viral immunity in the early 2010s, clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) has rapidly been developed into a robust, multifunctional genome editing tool with many uses. Following the discovery of the initial CRISPR/Cas-based system, the technology has been advanced to facilitate a multitude of different functions. These include development as a base editor, prime editor, epigenetic editor, and CRISPR interference (CRISPRi) and CRISPR activator (CRISPRa) gene regulators. Read More

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Clinical and Genetic Features of Brainstem Glioma in Adults: A Report of 50 Cases in a Single Center.

J Clin Neurol 2021 Apr;17(2):220-228

Department of Neurosurgery, The Sixth Medical Center of PLA General Hospital, Beijing, China.

Background And Purpose: Brainstem gliomas (BSGs) in adults are rare brain tumors with dismal outcomes. The aim of this study was to determine the clinical and genetic features in a series of BSGs and their association with the prognosis.

Methods: Fifty patients who underwent a stereotactic biopsy between January 2016 and April 2018 at a single institution were collected. Read More

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The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.

Mol Genet Genomic Med 2021 Apr 9:e1666. Epub 2021 Apr 9.

Research Centre for Medical Genetics, Moscow, Russia.

Background: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms. Read More

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Association of Brain-Derived Neurotrophic Factor rs6265 G>A polymorphism and Post-traumatic Stress Disorder susceptibility: A systematic review and meta-analysis.

Brain Behav 2021 Apr 9:e02118. Epub 2021 Apr 9.

Department of Neurology, Hubei Key Laboratory of Embryonic Stem Cell Research, Taihe Hospital, Hubei University of Medicine, Shiyan, China.

Background: Previous studies have shown that the brain-derived neurotrophic factor (BDNF) rs6265 G > A polymorphism is closely related post-traumatic stress disorder (PTSD) risk. However, the results were not consistent. We therefore conducted a meta-analysis to explore the underlying relationships between BDNF rs6265 G > A polymorphism and PTSD risk. Read More

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Bioinformatic pipelines combining denoising and clustering tools allow for more comprehensive prokaryotic and eukaryotic metabarcoding.

Mol Ecol Resour 2021 Apr 9. Epub 2021 Apr 9.

MARBEC, Ifremer, Univ. Montpellier, IRD, CNRS, Sète, France.

Environmental DNA metabarcoding is a powerful tool for studying biodiversity. However, bioinformatic approaches need to adjust to the diversity of taxonomic compartments targeted as well as to each barcode gene specificities. We built and tested a pipeline based on read correction with DADA2 allowing analysing metabarcoding data from prokaryotic (16S) and eukaryotic (18S, COI) life compartments. Read More

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