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MrHAMER yields highly accurate single molecule viral sequences enabling analysis of intra-host evolution.

Nucleic Acids Res 2021 Apr 13. Epub 2021 Apr 13.

Department of Immunology and Microbiology, The Scripps Research Institute, La Jolla, CA, USA.

Technical challenges remain in the sequencing of RNA viruses due to their high intra-host diversity. This bottleneck is particularly pronounced when interrogating long-range co-evolved genetic interactions given the read-length limitations of next-generation sequencing platforms. This has hampered the direct observation of these genetic interactions that code for protein-protein interfaces with relevance in both drug and vaccine development. Read More

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The Streetlight Effect: Reappraising the Study of Addiction in Light of the Findings of Genome-wide Association Studies.

Brain Behav Evol 2021 Apr 13:1-17. Epub 2021 Apr 13.

Department of Pharmacology and Experimental Therapeutics, College of Pharmacology and Pharmacological Science, University of Toledo, Toledo, Ohio, USA.

Drug dependence has long been thought to have a genetic component. Research seeking to identify the genetic basis of addiction has gone through important transitions over its history, in part based upon the emergence of new technologies, but also as the result of changing perspectives. Early research approaches were largely dictated by available technology, with technological advancements having highly transformative effects on genetic research, but the limitations of technology also affected modes of thinking about the genetic causes of disease. Read More

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Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing.

J Psychiatr Res 2021 Apr 1;138:125-129. Epub 2021 Apr 1.

Department of Psychiatry and Neuropsychology, School for Mental Health and Neuroscience (MHeNs), Faculty of Health and Life Sciences (FHML), Maastricht University, Maastricht, the Netherlands.

Inborn errors of metabolism (IEMs) are a group of rare genetic disorders which, when emerging later in life, are often characterized by neuropsychiatric manifestations including psychosis. This study aimed to determine whether it would be useful to screen patients presenting with a psychotic disorder for IEMs by a single blood sample using Next Generation Sequencing (NGS), in order to detect rare, treatable causes of psychotic disorders. Blood was drawn from 60 patients with a psychotic disorder, with a duration of illness of less than 5 years. Read More

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Evolution of sexual development and sexual dimorphism in insects.

Curr Opin Genet Dev 2021 Apr 10;69:129-139. Epub 2021 Apr 10.

Department of Evolution and Ecology, University of California, One Shields Ave, Davis, CA, 95616, USA.

Most animal species consist of two distinct sexes. At the morphological, physiological, and behavioral levels the differences between males and females are numerous and dramatic, yet at the genomic level they are often slight or absent. This disconnect is overcome because simple genetic differences or environmental signals are able to direct the sex-specific expression of a shared genome. Read More

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Epithelial folding determines the final shape of beetle horns.

Curr Opin Genet Dev 2021 Apr 10;69:122-128. Epub 2021 Apr 10.

Department of Entomology, Washington State University, Pullman, WA, 99163 USA. Electronic address:

The elaborate ornaments and weapons of sexual selection, such as the vast array of horns observed in scarab beetles, are some of the most striking outcomes of evolution. How these novel traits have arisen, develop, and respond to condition is governed by a complex suite of interactions that require coordination between the environment, whole-animal signals, cell-cell signals, and within-cell signals. Endocrine factors, developmental patterning genes, and sex-specific gene expression have been shown to regulate beetle horn size, shape, and location, yet no overarching mechanism of horn shape has been described. Read More

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Chronic scrotal hyperthermia induces azoospermia and severe damage to testicular tissue in mice.

Acta Histochem 2021 Apr 10;123(4):151712. Epub 2021 Apr 10.

Department of Biology and Anatomical Sciences, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

Scrotal hyperthermia leads to altered spermatogenesis due to heat-related oxidative stress. One of the main causes of infertility in men is oxidative stress, which refers to an imbalance in the levels of reactive oxygen species (ROS) and antioxidants. Therefore, this study aimed to evaluate the effects of chronic scrotal hyperthermia on testicular tissue structure, sperm parameters, and oxidative stress in adult mice. Read More

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Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort.

Epilepsy Behav 2021 Apr 10;118:107946. Epub 2021 Apr 10.

Epilepsy Program. Neurology Department, Ruber Internacional Hospital, Madrid, Spain.

Objective: This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy.

Methods: A retrospective, observational study was performed, including patients with CDD diagnosis evaluated between 2016 and 2019 at three tertiary Epilepsy Centers. Demographic, electroclinical and genetic features, as well as ASM treatments and their outcomes were analyzed, with special focus on SCBs. Read More

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Effectiveness of patient-targeted interventions to inform decision making and improve uptake of colorectal cancer genetic evaluation for at-risk individuals: A systematic review.

Int J Nurs Stud 2021 Mar 20;118:103928. Epub 2021 Mar 20.

Basic Nursing Department, School of Nursing, Jilin University, 965 Xinjiang Street, Changchun, Jilin 130021, China. Electronic address:

Background: Inherited colorectal cancer syndromes increase the risk of contracting colorectal and other cancers. International guidelines recommend the identification of individuals with hereditary colorectal cancer and the supervision of asymptomatic individuals with a family history. However, detection of hereditary colorectal cancer is suboptimal. Read More

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Phylogenomic analysis and characterization of carbon monoxide utilization genes in the family Phyllobacteriaceae with reclassification of Aminobacter carboxidus (Meyer et al. 1993, Hördt et al. 2020) as Aminobacter lissarensis comb. nov. (McDonald et al. 2005).

Syst Appl Microbiol 2021 Mar 26;44(3):126199. Epub 2021 Mar 26.

Department of Science, Roma Tre University, Viale G. Marconi 446, 00146 Rome, Italy. Electronic address:

The monotypic carboxydophilic genus Carbophilus has recently been transferred to the genus Aminobacter within the family Phyllobacteriaceae, and Carbophilus carboxidus was renamed Aminobacter carboxidus (comb. nov.) [Hördt et al. Read More

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Direct conversion of adult human fibroblasts into functional endothelial cells using defined factors.

Biomaterials 2021 Mar 24;272:120781. Epub 2021 Mar 24.

Division of Cardiology, Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea. Electronic address:

We aimed to directly convert adult human dermal fibroblasts (aHDFs) into functional endothelial cells (ECs). Lentiviral vectors encoding endothelial transcription factors (TFs) were constructed. We examined whether five TFs (FOXO1, ER71, KLF2, TAL1, and LMO2) used for the generation of mouse induced ECs (iECs) could convert the aHDFs into human iECs. Read More

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Common variants in CREB1 gene confer risk for bipolar disorder in Han Chinese.

Asian J Psychiatr 2021 Apr 6;59:102648. Epub 2021 Apr 6.

Division of Mood Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address:

Recently, we have identified involvement of the gene encoding cAMP responsive element-binding 1 (CREB1) in risk of BD in European ancestry. CREB1 has significant genetic diversity between Europeans and Chinese, thereby resulting in diverged CREB1 genetic backgrounds. In this study, we aimed to determine whether CREB1 confers susceptibility to BD and cognitive dysfunction in Han Chinese. Read More

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The Lanata trichome mutation increases stomatal conductance and reduces leaf temperature in tomato.

J Plant Physiol 2021 Apr 6;260:153413. Epub 2021 Apr 6.

Departamento de Biologia Vegetal, Universidade Federal de Viçosa, CEP 36570-900, Viçosa, MG, Brazil. Electronic address:

Trichomes are epidermal structures with a large variety of ecological functions and economic applications. Glandular trichomes produce a rich repertoire of secondary metabolites, whereas non-glandular trichomes create a physical barrier on the epidermis: both operate in tandem against biotic and abiotic stressors. A deeper understanding of trichome development and function would enable the breeding of more resilient crops. Read More

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An induced pluripotent stem cell line (GZHMCi004-A) derived from a fetus with heterozygous G380R mutation in FGFR3 gene causing achondroplasia.

Stem Cell Res 2021 Apr 5;53:102322. Epub 2021 Apr 5.

Department of Obstetrics and Gynecology, Department of Fetal Medicine and Prenatal Diagnosis, Key Laboratory for Major Obstetric Diseases of Guangdong Province, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. Electronic address:

Achondroplasia (ACH; MIM #100800) is an autosomal dominant genetic disease caused by gain-of-function mutations in FGFR3 gene and results in short-limb dwarfism. Here, we generated an induced pluripotent stem cell line GZHMCi004-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous G380R mutation in FGFR3 gene. This iPSC line is a valuable in vitro model to study the pathological mechanism and the treatment of ACH. Read More

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The linkage of cell cycle and DNA replication with growth difference in female Chinese tongue sole (Cynoglossus semilaevis): Analysis from transcriptomic study and WGCNA.

Comp Biochem Physiol Part D Genomics Proteomics 2021 Apr 7;39:100833. Epub 2021 Apr 7.

Key Laboratory for Sustainable Development of Marine Fisheries, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China; Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao National Laboratory for Marine Science and Technology, Qingdao 266235, China; Shandong Key Laboratory of Marine Fisheries Biotechnology and Genetic Breeding, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao 266071, China. Electronic address:

In addition to the typical sexual size dimorphism, considerable size differences within the female population of the Chinese tongue sole (Cynoglossus semilaevis) have become a further bottleneck of the improvement of sole aquaculture. To identify the internal mechanism, transcriptomic analysis and weighted gene co-expression network analysis (WGCNA) were employed simultaneously. Transcriptomic analyses of brain, pituitary gland, liver, gonad, and muscle tissues from two female groups with size differences identified 109, 698, 1325, 2299, and 2141 differentially expressed genes (DEGs), respectively. Read More

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Immune response and susceptibility of Nile tilapia fish to Aeromonas hydrophila infection following the exposure to Bifenthrin and/or supplementation with Petroselinum crispum essential oil.

Ecotoxicol Environ Saf 2021 Apr 10;216:112205. Epub 2021 Apr 10.

Forensic Medicine and Toxicology Department, Faculty of Veterinary Medicine, University of Sadat City, 32897, Egypt.

Bifenthrin (BF) is a widely used 3rd generation type I pyrethroid with a potential toxic effect in fish. Nevertheless, its effect on the immune system remains unclear. In the present study, Oreochromis niloticus was exposed to BF at 0. Read More

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Prevalence and molecular characterization of C. pecorum detected in Swiss fattening pigs.

Vet Microbiol 2021 Mar 31;256:109062. Epub 2021 Mar 31.

Institute of Veterinary Pathology, Vetsuisse-Faculty University Zurich, Zurich, 8057, Switzerland; Center for Clinical Studies, Vetsuisse-Faculty, University of Zurich, Zurich, 8057, Switzerland.

Chlamydia (C.) pecorum, an obligate intracellular bacterial species commonly found in ruminants, can also occur in pigs. However, its significance as a potential porcine pathogen, or commensal, is still unclear. Read More

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Molecular analysis of cryptosporidiosis cases in Western Australia in 2019 and 2020 supports the occurrence of two swimming pool associated outbreaks and reveals the emergence of a rare C. hominis IbA12G3 subtype.

Infect Genet Evol 2021 Apr 10:104859. Epub 2021 Apr 10.

Harry Butler Institute, Murdoch University, Murdoch, Western Australia 6150, Australia.

Cryptosporidium is an important protozoan parasite and due to its resistance to chlorine is a major cause of swimming pool-associated gastroenteritis outbreaks. The present study combined contact tracing and molecular techniques to analyse cryptosporidiosis cases and outbreaks in Western Australia in 2019 and 2020. In the 2019 outbreak, subtyping at the 60 kDa glycoprotein (gp60) gene identified 89. Read More

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In-silico design of a multivalent epitope-based vaccine against Candida auris.

Microb Pathog 2021 Apr 10:104879. Epub 2021 Apr 10.

Department of Molecular Biology and Genetic Engineering, India. Electronic address:

Candida auris is a rapidly emerging human pathogenic fungus with a high mortality rate. A recent report suggests that the new clinical isolates are showing resistance to the major classes of antifungal drugs. Due to the emergence of drug resistance, it becomes imperative to seek novel therapies for the treatment of C. Read More

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Comparative genomics of Edwardsiella ictaluri revealed four distinct host-specific genotypes and thirteen potential vaccine candidates.

Genomics 2021 Apr 10. Epub 2021 Apr 10.

Systems Biology and Bioinformatics Research Group, Pilot Plant Development and Training Institute (PDTI), King Mongkut's University of Technology Thonburi (KMUTT), Bangkok 10150, Thailand. Electronic address:

Edwardsiella ictaluri has been considered an important threat for catfish aquaculture industry for more than 4 decades and an emerging pathogen of farmed tilapia but only 9 sequenced genomes were publicly available. We hereby report two new complete genomes of E. ictaluri originated from diseased hybrid red tilapia (Oreochromis sp. Read More

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Genetic background and production periods shape the microRNA profiles of the gut in laying hens.

Genomics 2021 Apr 10. Epub 2021 Apr 10.

Leibniz Institute for Farm Animal Biology, Institute for Genome Biology, Wilhelm-Stahl-Allee 2, 18196 Dummerstorf, Germany; University Rostock, Faculty of Agricultural and Environmental Sciences, 18059 Rostock, Germany.

There is growing evidence of the importance of miRNAs for intestinal functional properties and nutritional uptake. Comparative miRNAs profiles of the jejunal mucosa were established against two genetic backgrounds (Lohmann Brown-Classic (LB) and Lohmann LSL-Classic (LSL), which are similar in egg production but differ in physiological traits including mineral utilization, along the production periods of laying hens. The target genes of miRNAs higher expressed in LB vs. Read More

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Identification of the trehalose-6-phosphate synthase gene family in Medicago truncatula and expression analysis under abiotic stresses.

Gene 2021 Apr 10:145641. Epub 2021 Apr 10.

College of Biological Sciences and Engineering, Jiangxi Agricultural University, Nanchang, 330045, PR China. Electronic address:

Trehalose-6-phosphate synthase (TPS) exerts important functions related to plant desiccation tolerance and responses to environmental stimuli. However, in Medicago truncatula, the TPS family has not been reported to date. This study found 11 MtTPS genes in the genome of M. Read More

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Genetic Variation in the Mauritian Cynomolgus Macaque Population Reflects Variation in the Human Population.

Gene 2021 Apr 10:145648. Epub 2021 Apr 10.

Preclinical Safety, Research and Development, Sanofi-Aventis US, LLC, Framingham, MA. Electronic address:

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Genetic Factors associated with Pain Severity, Daily Opioid Dose Requirement, and Pain Response among Advanced Cancer Patients receiving Supportive Care.

J Pain Symptom Manage 2021 Apr 10. Epub 2021 Apr 10.

Department of Palliative care, Rehabilitation Medicine, and Integrative Medicine UT MD Anderson Cancer Center, Houston, United States.

Background: Current understanding of genetic factors associated with pain severity, and improvement of pain with opioids in advanced cancer patients (AC) is inadequate for delivery of personalized pain therapy(PPT). Therefore, the aim of this study was to determine the genetic factors associated with pain severity, daily opioid dose, and pain response in AC patients receiving supportive care.

Methods: In this prospective study, AC patients were eligible if they had cancer pain ≥4/10 on Edmonton Symptom Assessment Scale (ESAS) - Pain Item and needed opioid rotation for pain control by specialist at the outpatient supportive care center. Read More

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Optical and Genetic Tools for in vivo Single Cell Tracking.

J Neurosci Methods 2021 Apr 10:109192. Epub 2021 Apr 10.

Instituto Cajal, CSIC, Ave. Doctor Arce, 37, Madrid, 28002 Spain.

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A Dimensional Approach to Functional Movement Disorders: Heresy or Opportunity.

Neurosci Biobehav Rev 2021 Apr 10. Epub 2021 Apr 10.

Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address:

Functional movement disorders (FMD) are a common and disabling neuropsychiatric condition, part of the spectrum of functional neurological/conversion disorder. FMD represent one of the most enigmatic disorders in the history of medicine. However, in the twenty years after the first report of distinctive abnormal brain activity associated with functional motor symptoms, there have been tremendous advances in the pathophysiologic understanding of these disorders. Read More

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Independent evolution of the thioredoxin system in photosynthetic Paulinella species.

Curr Biol 2021 Apr;31(7):R328-R329

Department of Biological Sciences, Sungkyunkwan University, Suwon 16419, Korea. Electronic address:

Redox regulation allows phytoplankton to monitor and stabilize metabolic pathways under changing conditions. In plastids, the thioredoxin (TRX) system is linked to photosynthetic electron transport and fine tuning of metabolic pathways to fluctuating light levels. Expansion of the number of redox signal transmitters and their protein targets, as seen in plants, is believed to increase cell robustness. Read More

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Therapeutic targeting of ATR yields durable regressions in small cell lung cancers with high replication stress.

Cancer Cell 2021 Apr;39(4):566-579.e7

Division of Preclinical Innovation, National Center for Advancing Translational Sciences, National Institute of Health, Rockville, MD 20850, USA; Lymphoid Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Small cell neuroendocrine cancers (SCNCs) are recalcitrant cancers arising from diverse primary sites that lack effective treatments. Using chemical genetic screens, we identified inhibition of ataxia telangiectasia and rad3 related (ATR), the primary activator of the replication stress response, and topoisomerase I (TOP1), nuclear enzyme that suppresses genomic instability, as synergistically cytotoxic in small cell lung cancer (SCLC). In a proof-of-concept study, we combined M6620 (berzosertib), first-in-class ATR inhibitor, and TOP1 inhibitor topotecan in patients with relapsed SCNCs. Read More

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Parkinson's disease.

Lancet 2021 Apr 9. Epub 2021 Apr 9.

Institute of Neurogenetics and Department of Neurology, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.

Parkinson's disease is a recognisable clinical syndrome with a range of causes and clinical presentations. Parkinson's disease represents a fast-growing neurodegenerative condition; the rising prevalence worldwide resembles the many characteristics typically observed during a pandemic, except for an infectious cause. In most populations, 3-5% of Parkinson's disease is explained by genetic causes linked to known Parkinson's disease genes, thus representing monogenic Parkinson's disease, whereas 90 genetic risk variants collectively explain 16-36% of the heritable risk of non-monogenic Parkinson's disease. Read More

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African and Asian leopards are highly differentiated at the genomic level.

Curr Biol 2021 Apr 10. Epub 2021 Apr 10.

Institute for Biochemistry and Biology, University of Potsdam, Karl-Liebknecht-Str. 24-25, 14476 Potsdam, Germany.

Leopards are the only big cats still widely distributed across the continents of Africa and Asia. They occur in a wide range of habitats and are often found in close proximity to humans. But despite their ubiquity, leopard phylogeography and population history have not yet been studied with genomic tools. Read More

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Inflammasome Genetic Variants, Macrophage Function, and Clinical Outcomes in Cystic Fibrosis.

Am J Respir Cell Mol Biol 2021 Apr 13. Epub 2021 Apr 13.

University of Washington, 7284, Biostatistics, Seattle, Washington, United States.

Cystic fibrosis (CF) is characterized by chronic airway infection, inflammation, and tissue damage that lead to progressive respiratory failure. NLRP3 and NLRC4 are cytoplasmic pattern recognition receptors that activate the inflammasome, initiating a caspase-1 mediated response. We hypothesized that gain of function inflammasome responses are associated with worse outcomes in children with CF. Read More

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