2,651 results match your criteria novel mosaic

Fine-Scale Inference of Ancestry Segments Without Prior Knowledge of Admixing Groups.

Genetics 2019 Jul;212(3):869-889

Dept. of Statistics, University of Oxford and Wellcome Trust Centre for Human Genetics, Oxford, UK.

Salter-Townshend and Myers present an open source tool for modelling multi-way admixture events using dense haplotype data. Their Hidden Markov Model approach is scalable to thousands of samples and, unlike existing methods.. Read More

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Complete genome sequence analysis of a novel coguvirus isolated from Paris polyphylla var. yunnanensis.

Arch Virol 2021 May 4. Epub 2021 May 4.

Key Laboratory for Agricultural Biodiversity for Pest Management of China, Ministry of Education, Yunnan Agricultural University, No. 95, Jinhei Road, Panlong District, Kunming, 650201, Yunnan, China.

A novel negative-stranded (ns) RNA virus tentatively named "Yunnan paris negative-stranded virus" (YPNSV), was isolated from Paris polyphylla var. yunnanensis plants exhibiting leaf chlorosis and mosaic symptoms in Yunnan. Its complete genome sequence was determined using Illumina and Sanger sequencing. Read More

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Microbial iron and carbon metabolism as revealed by taxonomy-specific functional diversity in the Southern Ocean.

ISME J 2021 May 3. Epub 2021 May 3.

CNRS, Sorbonne Université, Laboratoire d'Océanographie Microbienne, LOMIC, F-66650, Banyuls/mer, France.

Marine microbes are major drivers of all elemental cycles. The processing of organic carbon by heterotrophic prokaryotes is tightly coupled to the availability of the trace element iron in large regions of the Southern Ocean. However, the functional diversity in iron and carbon metabolism within diverse communities remains a major unresolved issue. Read More

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Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin-Siris syndrome 1.

Exp Ther Med 2021 Jun 14;21(6):614. Epub 2021 Apr 14.

Pediatric Research Institute, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Engineering Research Center of Stem Cell Therapy, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, P.R. China.

Coffin-Siris syndrome1 (CSS1; Online Mendelian Inheritance in Man no. 135900) is a multiple malformation syndrome characterized by intellectual and/or developmental delay, and hypoplastic or absent fifth fingernails and/or toenails. AT-rich interaction domain-containing protein 1B (ARID1B) is the most frequently mutated gene in CSS1 and the majority of reported cases have been sporadic. Read More

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Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.

Neuromuscul Disord 2021 Mar 23. Epub 2021 Mar 23.

Folkhälsan Research Center, Helsinki, Finland; Department of Medical Genetics, Medicum, University of Helsinki, Finland.

We report the first mosaic mutation, a deletion of exons 11-107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is ambulant and currently 26 years old. Muscle biopsies showed myopathic features with type 1 fibre predominance, strikingly hypotrophic type 2 fibres and central nuclei, but no nemaline bodies. Read More

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Grade of Membership models reveal geographical and environmental correlates of floristic structure in a temperate biodiversity hotspot.

New Phytol 2021 May 1. Epub 2021 May 1.

Department of Science and Education, Field Museum, Chicago, Illinois, 60605, USA.

Identifying the contours and correlates of species turnover is central to understanding the nature of biogeographical regions. The Hengduan Mountains region of south-central China (HMR) is well known for its high diversity of plants, but its boundaries and internal floristic structure are poorly understood, especially in relation to geographical and environmental factors. With data on occurrences and elevational ranges of seed plants across the HMR and adjacent areas of the greater Qinghai-Tibet Plateau, we identified motifs (distinct species assemblages) by Grade of Membership models, and characterized relative contributions of geography, elevation, and climate to their spatial patterns. Read More

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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.

J Eur Acad Dermatol Venereol 2021 Apr 30. Epub 2021 Apr 30.

Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079, Dijon, France.

Background: Postzygotic mutations in FGFR2 have been identified in mosaic forms of acne, keratinocytic epidermal nevi, nevoid acanthosis nigricans / rounded and velvety epidermal nevus and in two fetuses with papillomatous pedunculated sebaceous nevus (PPSN).

Objectives: To determine the clinical and genetic characteristics of children with cerebriform, papillomatous, and pedunculated variants of sebaceous nevi.

Methods: Infants diagnosed with sebaceous nevi characterized by a cerebriform, papillomatous, and/or pedunculated morphology over a 10-year period (2010 - 2019) at three pediatric dermatology centers in Switzerland and France were included in this case series. Read More

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Molecular characterization of Neisseria gonorrhoeae isolates collected through a national surveillance programme in Japan, 2013: evidence of the emergence of a ceftriaxone-resistant strain from a ceftriaxone-susceptible lineage.

J Antimicrob Chemother 2021 Apr 30. Epub 2021 Apr 30.

Department of Microbiology and Infectious Diseases, Toho University Graduate School of Medicine, Tokyo, Japan.

Objectives: To investigate the spread of ceftriaxone-resistant Neisseria gonorrhoeae lineages similar to strains H041 (2009) and FC428 (2015), we characterized 55 strains collected in 2013 from hospitals across Japan.

Methods: Susceptibility testing and whole-genome sequencing.

Results: Susceptibility rates were 58% for cefixime and 98% for ceftriaxone. Read More

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Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.

Genes (Basel) 2021 Apr 16;12(4). Epub 2021 Apr 16.

Department of Environmental Biological and Pharmaceutical Sciences and Technologies (DiSTABiF), Università degli Studi della Campania "Luigi Vanvitelli", 81100 Caserta, Italy.

Molecular defects altering the expression of the imprinted genes of the 11p15.5 cluster are responsible for the etiology of two congenital disorders characterized by opposite growth disturbances, Silver-Russell syndrome (SRS), associated with growth restriction, and Beckwith-Wiedemann syndrome (BWS), associated with overgrowth. At the molecular level, SRS and BWS are characterized by defects of opposite sign, including loss (LoM) or gain (GoM) of methylation at the :intergenic differentially methylated region (:IG-DMR), maternal or paternal duplication (dup) of 11p15. Read More

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Genetic analyses of a secondary poroma and trichoblastoma in a HRAS-mutated sebaceous nevus.

J Dermatol 2021 Apr 27. Epub 2021 Apr 27.

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

A sebaceous nevus is a congenital skin hamartoma caused by postzygotic HRAS or KRAS mosaic mutations. With age, affected individuals may develop secondary tumors within a sebaceous nevus. RAS mutations are harbored from the onset of sebaceous nevus, and further mutations can be expected to be required in order to explain the initiation of secondary tumors. Read More

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A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.

Endocr J 2021 Apr 28. Epub 2021 Apr 28.

Department of Endocrinology and Metabolism, Kanazawa University Graduate School of Medical Sciences, Ishikawa 920-8640, Japan.

X-linked hypophosphatemic rickets (XLH) is primarily characterized by renal phosphate wasting with hypophosphatemia, short stature, and bone deformity of the leg. Here we present a male case of XLH with relatively mild bone deformity caused by a mosaic mutation of the phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX). Polymerase chain reaction (PCR) direct sequencing revealed a novel in-frame deletion, NM-000444. Read More

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Reprogramming Virus Coat Protein Carboxylate Interactions for the Patterned Assembly of Hierarchical Nanorods.

Biomacromolecules 2021 Apr 22. Epub 2021 Apr 22.

Institute for Bioscience and Biotechnology Research, Department of Plant Science and Landscape Architecture, University of Maryland, College Park, Maryland 20742, United States.

The self-assembly system of the rod-shaped tobacco mosaic virus (TMV) has been studied extensively for nanoscale applications. TMV coat protein assembly is modulated by intersubunit carboxylate groups whose electrostatic repulsion limits the assembly of virus rods without incorporating genomic RNA. To engineer assembly control into this system, we reprogrammed intersubunit carboxylate interactions to produce self-assembling coat proteins in the absence of RNA and in response to unique pH and ionic environmental conditions. Read More

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain 2021 Apr 21. Epub 2021 Apr 21.

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence, Italy.

Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relapsing encephalopathy with cerebellar ataxia (all ATP1A3). A few reports have described single individuals with heterozygous mutations of ATP1A2/A3 associated with severe childhood epilepsies. Early lethal hydrops fetalis, arthrogryposis, microcephaly, and polymicrogyria have been associated with homozygous truncating mutations in ATP1A2. Read More

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A community-driven resource for genomic epidemiology and antimicrobial resistance prediction of Neisseria gonorrhoeae at Pathogenwatch.

Genome Med 2021 Apr 19;13(1):61. Epub 2021 Apr 19.

Centre for Genomic Pathogen Surveillance, Big Data Institute, Nuffield Department of Medicine, University of Oxford, Oxford, Oxfordshire, UK.

Background: Antimicrobial-resistant (AMR) Neisseria gonorrhoeae is an urgent threat to public health, as strains resistant to at least one of the two last-line antibiotics used in empiric therapy of gonorrhoea, ceftriaxone and azithromycin, have spread internationally. Whole genome sequencing (WGS) data can be used to identify new AMR clones and transmission networks and inform the development of point-of-care tests for antimicrobial susceptibility, novel antimicrobials and vaccines. Community-driven tools that provide an easy access to and analysis of genomic and epidemiological data is the way forward for public health surveillance. Read More

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Evaluation of bat adenoviruses suggests co-evolution and host roosting behaviour as drivers for diversity.

Microb Genom 2021 Apr;7(4)

Metabiota Inc, Nanaimo, British Columbia, Canada.

Adenoviruses (AdVs) are diverse pathogens of humans and animals, with several dozen bat AdVs already identified. Considering that over 100 human AdVs are known, and the huge diversity of bat species, many bat AdVs likely remain undiscovered. To learn more about AdV prevalence, diversity and evolution, we sampled and tested bats in Cameroon using several PCR assays for viral and host DNA. Read More

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Decoding and rejuvenating human ageing genomes: Lessons from mosaic chromosomal alterations.

Ageing Res Rev 2021 Apr 15;68:101342. Epub 2021 Apr 15.

School of Life Sciences, Yunnan Normal University, Kunming, Yunnan, 650500, China; The Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, Yunnan, 650500, China; Yunnan Environmental Mutagen Society, Kunming, Yunnan, 650500, China. Electronic address:

One of the most curious findings emerged from genome-wide studies over the last decade was that genetic mosaicism is a dominant feature of human ageing genomes. The clonal dominance of genetic mosaicism occurs preceding the physiological and physical ageing and associates with propensity for diseases including cancer, Alzheimer's disease, cardiovascular disease and diabetes. These findings are revolutionizing the ways biologists thinking about health and disease pathogenesis. Read More

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Two strains of a novel begomovirus encoding Rep proteins with identical β1 strands but different β5 strands are not compatible in replication.

Arch Virol 2021 Apr 14. Epub 2021 Apr 14.

División de Biología Molecular, Instituto Potosino de Investigación Científica y Tecnológica, A.C. Camino a la Presa de San José 2055, Lomas 4a Sección, C.P. 78216, San Luis Potosí, S.L.P., Mexico.

Geminiviruses have genomes composed of single-stranded DNA molecules and encode a rolling-circle replication (RCR) initiation protein ("Rep"), which has multiple functions. Rep binds to specific repeated DNA motifs ("iterons"), which are major determinants of virus-specific replication. The particular amino acid (aa) residues that determine the preference of a geminivirus Rep for specific iterons (i. Read More

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Focal cortical dysplasia: an update on diagnosis and treatment.

Expert Rev Neurother 2021 Apr 25:1-12. Epub 2021 Apr 25.

Neuroscience Department, Children's Hospital Meyer-University of Florence, Florence, Italy.

Introduction: Focal cortical dysplasias (FCDs) represent the most common etiology in pediatric drug-resistant focal epilepsies undergoing surgical treatment. The localization, extent and histopathological features of FCDs are considerably variable. Somatic mosaic mutations of genes that encode proteins in the PI3K-AKTmTOR pathway, which also includes the tuberous sclerosis associated genes and , have been implicated in FCD type II in a substantial subset of patients. Read More

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The P1 Protein of Compromises the Activity as RNA Silencing Suppressor of the P25 Protein of .

Front Microbiol 2021 22;12:645530. Epub 2021 Mar 22.

Centre for Research in Agricultural Genomics (CRAG), CSIC-IRTA-UAB-UB, Campus UAB Bellaterra, Barcelona, Spain.

Mixed viral infections in plants involving a potyvirus and other unrelated virus often result in synergistic effects, with significant increases in accumulation of the non-potyvirus partner, as in the case of melon plants infected by the potyvirus (WMV) and the crinivirus (CYSDV). To further explore the synergistic interaction between these two viruses, the activity of RNA silencing suppressors (RSSs) was addressed in transiently co-expressed combinations of heterologous viral products in leaves. While the strong RSS activity of WMV Helper Component Proteinase (HCPro) was unaltered, including no evident additive effects observed when co-expressed with the weaker CYSDV P25, an unexpected negative effect of WMV P1 was found on the RSS activity of P25. Read More

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Molecular and biological characterization of a new mulberry idaeovirus.

Virus Res 2021 Jun 3;298:198411. Epub 2021 Apr 3.

Mustafa Kemal University, Plant Protection Department, Hatay, 31034, Turkey.

A virus-like disease with symptoms including mosaic structure, deformation, vein clearing and necrosis on the leaves and deformation, crumbling, and scab on the fruits was detected in black mulberry trees (Morus nigra L.) in Kayseri province of Turkey. A novel positive single-stranded RNA virus with a bipartite genome and the mulberry badnavirus 1 (MBV-1) were detected in the black mulberry trees by high throughput sequencing and bioinformatic analyses. Read More

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Diverse genetic causes of polymicrogyria with epilepsy.


Epilepsia 2021 Apr 5;62(4):973-983. Epub 2021 Apr 5.

Objective: We sought to identify novel genes and to establish the contribution of known genes in a large cohort of patients with nonsyndromic sporadic polymicrogyria and epilepsy.

Methods: We enrolled participants with polymicrogyria and their parents through the Epilepsy Phenome/Genome Project. We performed phenotyping and whole exome sequencing (WES), trio analysis, and gene-level collapsing analysis to identify de novo or inherited variants, including germline or mosaic (postzygotic) single nucleotide variants, small insertion-deletion (indel) variants, and copy number variants present in leukocyte-derived DNA. Read More

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A genomics resource for genetics, physiology, and breeding of West African sorghum.

Plant Genome 2021 Apr 5:e20075. Epub 2021 Apr 5.

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

Local landrace and breeding germplasm is a useful source of genetic diversity for regional and global crop improvement initiatives. Sorghum (Sorghum bicolor L. Moench) in western Africa (WA) has diversified across a mosaic of cultures and end uses and along steep precipitation and photoperiod gradients. Read More

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Detecting cassava mosaic disease using a deep residual convolutional neural network with distinct block processing.

PeerJ Comput Sci 2021 2;7:e352. Epub 2021 Mar 2.

Department of Applied Informatics, Vytautas Magnus University, Kaunas, Lithuania.

For people in developing countries, cassava is a major source of calories and carbohydrates. However, Cassava Mosaic Disease (CMD) has become a major cause of concern among farmers in sub-Saharan Africa countries, which rely on cassava for both business and local consumption. The article proposes a novel deep residual convolution neural network (DRNN) for CMD detection in cassava leaf images. Read More

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Novel Chromosome-Borne Accessory Genetic Elements Carrying Multiple Antibiotic Resistance Genes in .

Front Cell Infect Microbiol 2021 18;11:638087. Epub 2021 Mar 18.

State Key Laboratory of Pathogen and Biosecurity, Beijing Institute of Microbiology and Epidemiology, Beijing, China.

is noted for its intrinsic antibiotic resistance and capacity of acquiring additional resistance genes. In this study, the genomes of nine clinical isolates were fully sequenced. An extensive genetic comparison was applied to 18  accessory genetic elements (AGEs; 13 of them were sequenced in this study and located within chromosomes) that were divided into four groups: five related integrative and conjugative elements (ICEs), four related integrative and mobilizable elements (IMEs), five related unit transposons, and two related IMEs and their two derivatives. Read More

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Persistent Southern Tomato Virus (STV) Interacts with Cucumber Mosaic and/or Pepino Mosaic Virus in Mixed- Infections Modifying Plant Symptoms, Viral Titer and Small RNA Accumulation.

Microorganisms 2021 Mar 26;9(4). Epub 2021 Mar 26.

Biotechnology and Plant Protection Center, Valencian Institute of Agricultural Research (IVIA), 46113 Valencia, Spain.

Southern tomato virus (STV) is a persistent virus that was, at the beginning, associated with some tomato fruit disorders. Subsequent studies showed that the virus did not induce apparent symptoms in single infections. Accordingly, the reported symptoms could be induced by the interaction of STV with other viruses, which frequently infect tomato. Read More

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Strategies Targeting Hemagglutinin as a Universal Influenza Vaccine.

Vaccines (Basel) 2021 Mar 13;9(3). Epub 2021 Mar 13.

Nebraska Center for Virology, School of Biological Sciences, University of Nebraska-Lincoln, Lincoln, NE 68504, USA.

Influenza virus has significant viral diversity, both through antigenic drift and shift, which makes development of a vaccine challenging. Current influenza vaccines are updated yearly to include strains predicted to circulate in the upcoming influenza season, however this can lead to a mismatch which reduces vaccine efficacy. Several strategies targeting the most abundant and immunogenic surface protein of influenza, the hemagglutinin (HA) protein, have been explored. Read More

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Stable Display of Artificially Long Foreign Antigens on Chimeric Particles.

Viruses 2021 03 29;13(4). Epub 2021 Mar 29.

Graduate Institute of Biotechnology, National Chung Hsing University, Taichung 40227, Taiwan.

Plant viruses can be genetically modified to generate chimeric virus particles (CVPs) carrying heterologous peptides fused on the surface of coat protein (CP) subunits as vaccine candidates. However, some factors may be especially significant in determining the properties of chimeras. In this study, peptides from various sources and of various lengths were inserted into the Bamboo mosaic virusbased (BaMV) vector CP N-terminus to examine the chimeras infecting and accumulating in plants. Read More

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Genes Associated with Virulence and Their Link to Virus Seed Transmission.

Microorganisms 2021 Mar 27;9(4). Epub 2021 Mar 27.

Centro de Biotecnología y Genómica de Plantas UPM-INIA and Departamento de Biotecnología-Biología Vegetal, E.T.S. Ingeniería Agronómica, Alimentaria y de Biosistemas, Universidad Politécnica de Madrid, 28045 Madrid, Spain.

Virulence, the effect of pathogen infection on progeny production, is a major determinant of host and pathogen fitness as it affects host fecundity and pathogen transmission. In plant-virus interactions, ample evidence indicates that virulence is genetically controlled by both partners. However, the host genetic determinants are poorly understood. Read More

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The Novel Genetic Background of Infectious Bursal Disease Virus Strains Emerging from the Action of Positive Selection.

Viruses 2021 03 2;13(3). Epub 2021 Mar 2.

Department of Clinical Veterinary Medicine, College of Veterinary Medicine, University of Illinois at Urbana-Champaign, Urbana, IL 61802, USA.

The circulation in Europe of novel reassortant strains of infectious bursal disease virus (IBDV), containing a unique genetic background composition, represents a serious problem for animal health. Since the emergence of this novel IBDV mosaic was first described in Poland, this scenario has become particularly attractive to uncover the evolutionary forces driving the genetic diversity of IBDV populations. This study additionally addressed the phenotypic characterization of these emergent strains, as well as the main features affecting the viral fitness during the competition process of IBDV lineages in the field. Read More

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Mild α-Thalassemia Caused by a Mosaic α-Globin Gene Mutation.

Hemoglobin 2021 Mar 29:1-4. Epub 2021 Mar 29.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, People's Republic of China.

We describe a new α-globin chain variant in a Chinese subject. This novel variant, with a Val→Met substitution at codon 93 of the α-globin chain, has been named Hb Qingcheng (: c.280G>A) for where the proband was born. Read More

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