303 results match your criteria severely mosaic

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

View Article and Full-Text PDF

Smallholder cassava planting material movement and grower behaviour in Zambia: implications for the management of cassava virus diseases.

Phytopathology 2021 Apr 15. Epub 2021 Apr 15.

London School of Hygiene & Tropical Medicine, 4906, London, London, United Kingdom of Great Britain and Northern Ireland;

Cassava is an important food crop across sub-Saharan Africa, where production is severely inhibited by two viral diseases; cassava mosaic disease (CMD) and cassava brown streak disease (CBSD), both propagated by a whitefly vector and via human-mediated movement of infected cassava stems. There is limited information on growers' behaviour related to movement of planting material, as well as growers' perception and awareness of cassava diseases, despite the importance of these factors for disease control. This study surveyed a total of 96 cassava subsistence growers and their fields across five provinces in Zambia between 2015 and 2017, to address these knowledge gaps. Read More

View Article and Full-Text PDF

Transcriptome analysis of yellow passion fruit in response to cucumber mosaic virus infection.

PLoS One 2021 24;16(2):e0247127. Epub 2021 Feb 24.

Institute of Bioengineering, Guangdong Academy of Sciences, Guangzhou, Guangdong, China.

The cultivation and production of passion fruit (Passiflora edulis) are severely affected by viral disease. Yet there have been few studies of the molecular response of passion fruit to virus attack. In the present study, RNA-based transcriptional profiling (RNA-seq) was used to identify the gene expression profiles in yellow passion fruit (Passiflora edulis f. Read More

View Article and Full-Text PDF
February 2021

Association of differentially expressed R-gene candidates with leaf spot resistance in peanut (Arachis hypogaea L.).

Mol Biol Rep 2021 Jan 5;48(1):323-334. Epub 2021 Jan 5.

Department of Crop, Soil and Environmental Sciences, Auburn University, Auburn, AL, USA.

Early leaf spot (ELS) and late leaf spot (LLS) are major fungal diseases of peanut that can severely reduce yield and quality. Development of acceptable genetic resistance has been difficult due to a strong environmental component and many major and minor QTLs. Resistance genes (R-genes) are an important component of plant immune system and have been identified in peanut. Read More

View Article and Full-Text PDF
January 2021

First Report of Beet Curly Top Virus Infecting Industrial Hemp (Cannabis sativa) in Arizona.

Plant Dis 2020 Dec 14. Epub 2020 Dec 14.

University of Arizona, School of Plant Sciences, Tucson, Arizona, United States;

Industrial hemp (Cannabis sativa) is an emerging crop in Arizona, with many uses, including fiber, cosmetic products, and health food. In 2020, severe curly top disease outbreaks were observed in several hemp fields in Yuma and Graham Counties, Arizona, where disease incidence and severity were considerably high, up to 100% crop loss occurring in some fields. A wide range of symptoms have been observed at different infection stages and plant growth stages at the time of infection. Read More

View Article and Full-Text PDF
December 2020

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.

Orphanet J Rare Dis 2020 12 9;15(1):343. Epub 2020 Dec 9.

Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

Background: GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.

Results: Six patients who participated in Korean Undiagnosed Disease Program were diagnosed to have pathogenic or likely pathogenic variants in GNAO1 using whole exome sequencing. Read More

View Article and Full-Text PDF
December 2020

Developmental phenotypes of plants expressing phosphovariants of .

Plant Signal Behav 2021 01 24;16(1):1836454. Epub 2020 Oct 24.

Michael Smith Laboratories, Department of Botany, University of British Columbia , Vancouver, Canada.

The transcription factor Myeloblastosis protein 75 (MYB75, AT1G56650) is a well-established transcriptional activator of genes required for anthocyanin and flavonoid production, and a repressor of lignin and other secondary cell wall biosynthesis genes. MYB75 is itself tightly regulated at the transcriptional, translational and post-translational levels, including protein phosphorylation by MAP kinases Examination of the behavior of different phosphovariant versions of MYB75 and revealed that overexpression of the MYB75 phosphovariant had a particularly marked effect on global changes in gene expression suggesting that phosphorylated MYB75 could be involved in a broader range of functions than previously recognized. Here, we describe a range of distinct developmental phenotypes observed among lines expressing various phosphovariant forms of MYB75. Read More

View Article and Full-Text PDF
January 2021

Costus stripe mosaic virus, a tentative new member of the genus Potyvirus.

Arch Virol 2020 Nov 26;165(11):2541-2548. Epub 2020 Aug 26.

Escola Superior de Agricultura Luiz de Queiróz, USP, CP 09, Piracicaba, SP, CEP 13418-900, Brazil.

Morphological, biological, serological, and molecular tests underpin the description of costus stripe mosaic virus (CoSMV) as a new member of the genus Potyvirus, family Potyviridae. Found affecting the native ornamental Costus spiralis in Brazil, the pathogen showed a severely restricted natural and experimental host range. Excluding the poly(A) tail, the CoSMV genome contains a large open reading frame (ORF) of 9,446 nucleotides that encodes a polyprotein with 3,046 amino acids, which is potentially cleaved into ten products, and a small ORF (77 amino acids) knows as PIPO. Read More

View Article and Full-Text PDF
November 2020

First report of apple rubbery wood virus 2 infection of apples in China.

Plant Dis 2020 Aug 25. Epub 2020 Aug 25.

Apple Industry Research Institute of Zhaotong, Zhaotong, China;

Apple (Malus) is one of the most widely grown fruit trees worldwide, and viral diseases can severely inhibit its growth and development. Apple rubbery wood virus 2 (ARWV-2, family Phenuiviridae) is a negative-sense single-stranded RNA virus whose genome comprises three RNA segments (large: L, medium: M, and small: S) (Rott et al. 2018). Read More

View Article and Full-Text PDF

Occurrence, genetic diversity, and recombination of maize lethal necrosis disease-causing viruses in Kenya.

Virus Res 2020 09 11;286:198081. Epub 2020 Jul 11.

Biosciences Eastern and Central Africa, International Livestock Research Institute (BecA - ILRI) Hub, P.O. Box 30709-00100, Nairobi, Kenya.

Maize is the most important food crop in Kenya accounting for more than 51 % of all staples grown in the country. Out of Kenya's 5.3 million ha total crops area, more than 2. Read More

View Article and Full-Text PDF
September 2020

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Mol Genet Genomic Med 2020 09 6;8(9):e1386. Epub 2020 Jul 6.

Medical Genetics, Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milano, Italy.

Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have been drawn regarding the link between epigenetic defects, twinning process, and gender. Read More

View Article and Full-Text PDF
September 2020

The Barley Gene Positively Regulates the Tolerance to Combined Drought and Salinity Stress in Tibetan Wild Barley.

Cells 2020 06 23;9(6). Epub 2020 Jun 23.

Department of Agronomy and Zhejiang Key Laboratory of Crop Germplasm, College of Agriculture and Biotechnology, Zijingang Campus, Zhejiang University, Hangzhou 310058, China.

Drought and salinity are two of the most frequently co-occurring abiotic stresses. Despite recent advances in the elucidation of the effects of these stresses individually during the vegetative stage of plants, significant gaps exist in our understanding of the combined effects of these two frequently co-occurring stresses. Here, Tibetan wild barley XZ5 (drought tolerant), XZ16 (salt tolerant), and cultivated barley . Read More

View Article and Full-Text PDF

Interaction Between Zn Deficiency, Toxicity and Turnip Yellow Mosaic Virus Infection in .

Front Plant Sci 2020 5;11:739. Epub 2020 Jun 5.

Department of Plant Biophysics and Biochemistry, Biology Centre, Institute of Plant Molecular Biology, Czech Academy of Sciences, České Budějovice, Czechia.

Zinc is essential for the functioning of numerous proteins in plants. To investigate how Zn homeostasis interacts with virus infection, Zn-tolerant plants exposed to deficient (Zn'0'), optimal (Zn10), and excess Zn (Zn100) concentrations, as well as Cd amendment, were infected with Turnip yellow mosaic virus (TYMV). Imaging analysis of fluorescence kinetics from the μs (OJIP) to the minutes (Kautsky effect, quenching analysis) time domain revealed strong patchiness of systemic virus-induced photosystem II (PSII) inhibition. Read More

View Article and Full-Text PDF

Status and distribution of Comoé Chimpanzees: combined use of transects and camera traps to quantify a low-density population in savanna-forest mosaic.

Primates 2020 Sep 7;61(5):647-659. Epub 2020 Apr 7.

Animal Ecology and Tropical Biology, Biozentrum, Universität Würzburg, Tierökologie und Tropenbiologie (Zoologie III), Am Hubland, 97074, Würzburg, Germany.

The West African chimpanzee is critically endangered (CR). From 1990 to 2007, Ivory Coast lost 90% of its population to habitat destruction and poaching. In order to effectively implement conservation measures, we need to determine the status of any remaining populations in the country. Read More

View Article and Full-Text PDF
September 2020

Differential responses of cultivars following mungbean yellow mosaic India virus infection.

Physiol Mol Biol Plants 2020 Apr 1;26(4):817-828. Epub 2020 Jan 1.

1Department of Biotechnology, Visva-Bharati, Siksha Bhavana, Santiniketan, West Bengal 731235 India.

commonly known as French bean is a vital leguminous crop worldwide and India stood 1st rank in dry bean and 4th rank in green bean production worldwide (FAOSTAT 2017). However, this production is severely affected by Mungbean yellow mosaic India virus (MYMIV) infection. Hence it is very important to identify MYMIV tolerant cultivars. Read More

View Article and Full-Text PDF

Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.

Eur J Med Genet 2020 Jun 30;63(6):103924. Epub 2020 Mar 30.

Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand.

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in EFNB1. Uncommonly and paradoxically, female patients with CFNS exhibit significantly more severe symptoms than male patients. This is explained by "cellular interference". Read More

View Article and Full-Text PDF

Serine-Arginine Protein Kinase 1 Regulates Ebola Virus Transcription.

mBio 2020 02 25;11(1). Epub 2020 Feb 25.

Institut für Virologie, Philipps-Universität Marburg, Marburg, Germany

Ebola virus (EBOV) causes a severe and often fatal disease for which no approved vaccines or antivirals are currently available. EBOV VP30 has been described as a viral phosphoprotein, and nonphosphorylated VP30 is essential and sufficient to support secondary transcription in an EBOV-specific minigenome system; however, phosphorylatable serine residues near the N terminus of VP30 are required to support primary viral transcription as well as the reinitiation of VP30-mediated transcription at internal EBOV genes. While the dephosphorylation of VP30 by the cellular phosphatase PP2A was found to be mediated by nucleoprotein, the VP30-specific kinases and the role of phosphorylation remain unknown. Read More

View Article and Full-Text PDF
February 2020

Design, Synthesis, and Antiviral Activities of Coumarin Derivatives Containing Dithioacetal Structures.

J Agric Food Chem 2020 Jan 14;68(4):975-981. Epub 2020 Jan 14.

State Key Laboratory Breeding Base of Green Pesticide and Agricultural Bioengineering, Key Laboratory of Green Pesticide and Agricultural Bioengineering, Ministry of Education , Guizhou University , Huaxi District, Guiyang 550025 , China.

In this study, a series of coumarin derivatives containing dithioacetals were synthesized, characterized, and assessed for their anti-tobacco mosaic virus (TMV) activities. Biological tests showed that most of the title compounds exhibited significant anti-TMV biological activities; in particular, compound showed good inactivating activity anti-TMV, with an EC of 54.2 mg/L, superior to that of ribavirin (134. Read More

View Article and Full-Text PDF
January 2020

Genetic diversity of begomoviruses infecting tomato plant in Saudi Arabia.

Saudi J Biol Sci 2020 Jan 22;27(1):222-228. Epub 2019 Aug 22.

Special Infectious Agents Unit, King Fahd Medical Research Center, King Abdulaziz University, Post Box No: 80216, Jeddah 21589, Saudi Arabia.

Tomato is known as a highly valuable crop and grown worldwide for various uses. The cultivation and tomato production severely affected globally by several diseases caused by various pathogens. Begomoviruses causes yellow mosaic and leaf curl disease of tomato in the tropical, subtropical, temperate, and semi-arid regions. Read More

View Article and Full-Text PDF
January 2020

Case - Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete azoospermia factor c (AZFc) Y chromosome microdeletion.

Can Urol Assoc J 2020 May 29;14(5):E224-E226. Epub 2019 Nov 29.

Department of Urologic Sciences, University of British Columbia, Vancouver, BC, Canada.

View Article and Full-Text PDF

A metabolomics characterisation of natural variation in the resistance of cassava to whitefly.

BMC Plant Biol 2019 Nov 27;19(1):518. Epub 2019 Nov 27.

School of Biological Sciences, Royal Holloway University of London, Egham, UK.

Background: Cassava whitefly outbreaks were initially reported in East and Central Africa cassava (Manihot esculenta Crantz) growing regions in the 1990's and have now spread to other geographical locations, becoming a global pest severely affecting farmers and smallholder income. Whiteflies impact plant yield via feeding and vectoring cassava mosaic and brown streak viruses, making roots unsuitable for food or trading. Deployment of virus resistant varieties has had little impact on whitefly populations and therefore development of whitefly resistant varieties is also necessary as part of integrated pest management strategies. Read More

View Article and Full-Text PDF
November 2019

Disruption of mosGILT in Anopheles gambiae impairs ovarian development and Plasmodium infection.

J Exp Med 2020 01;217(1)

Section of Infectious Diseases, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT.

Plasmodium infection in Anopheles is influenced by mosquito-derived factors. We previously showed that a protein in saliva from infected Anopheles, mosquito gamma-interferon-inducible lysosomal thiol reductase (mosGILT), inhibits the ability of sporozoites to traverse cells and readily establish infection of the vertebrate host. To determine whether mosGILT influences Plasmodium within the mosquito, we generated Anopheles gambiae mosquitoes carrying mosaic mutations in the mosGILT gene using CRISPR/CRISPR associated protein 9 (Cas9). Read More

View Article and Full-Text PDF
January 2020

Interactions between soybean, Bradyrhizobium japonicum and Soybean mosaic virus: the effects depend on the interaction sequence.

Funct Plant Biol 2019 10;46(11):1036-1048

Instituto de Fisiología y Recursos Genéticos Vegetales, Centro de Investigaciones Agropecuarias-INTA, Camino 60 Cuadras Km 5 y ½, X5020ICA, Córdoba, Argentina; and Cátedra de Fisiología Vegetal, Facultad de Ciencias Exactas Físicas y Naturales, Universidad Nacional de Córdoba, Av. Vélez Sarsfield 299, Córdoba, Argentina; and Corresponding author. Email:

The symbiotic interaction between soybean and nitrogen-fixing rhizobia can lead to plant growth promotion and induced systemic responses. Symbiotic interactions may increase tolerance/resistance to abiotic/biotic stress conditions, but are also sensitive to environmental conditions. Soybean mosaic virus (SMV), which is transmitted by seed and aphids, severely affects crop yields in many areas of the world, consequently virus infection may precede rhizobium infection or vice versa in the field. Read More

View Article and Full-Text PDF
October 2019

A novel mutation of MSX1 inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia.

Ann Hum Genet 2020 01 30;84(1):97-101. Epub 2019 Aug 30.

Department of Pediatric Dentistry, School and Hospital of Stomatology, Tianjin Medical University, Tianjin, 300070, People's Republic of China.

Mutations of MSX1 have been associated with nonsyndromic hypodontia. To seek the causal gene mutation sites in a family with nonsyndromic oligodontia, whole-exome sequencing (WES) was performed to seek the causative locus of the family. The candidate mutation was further identified by Sanger sequencing afterward. Read More

View Article and Full-Text PDF
January 2020

Visual Function at the Atrophic Border in Choroideremia Assessed with Adaptive Optics Microperimetry.

Ophthalmol Retina 2019 10 8;3(10):888-899. Epub 2019 May 8.

Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania; Center for Advanced Retinal and Ocular Therapeutics, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address:

Purpose: Recent advances in retinal imaging allow visualization of structural abnormalities in retinal disease at the cellular level. This study used adaptive optics (AO) microperimetry to assess visual sensitivity with high spatial precision and to examine how function varies across 2 phenotypic features observed in choroideremia: atrophic lesion borders and outer retinal tubulations (ORTs).

Design: Cross-sectional study. Read More

View Article and Full-Text PDF
October 2019

Mechanism Underlying Heat Stability of the Rice Endosperm Cytosolic ADP-Glucose Pyrophosphorylase.

Front Plant Sci 2019 11;10:70. Epub 2019 Feb 11.

Institute of Biological Chemistry, Washington State University, Pullman, WA, United States.

Rice grains accumulate starch as their major storage reserve whose biosynthesis is sensitive to heat. ADP-glucose pyrophosphorylase (AGPase) is among the starch biosynthetic enzymes severely affected by heat stress during seed maturation. To increase the heat tolerance of the rice enzyme, we engineered two dominant AGPase subunits expressed in developing endosperm, the large (L2) and small (S2b) subunits of the cytosol-specific AGPase. Read More

View Article and Full-Text PDF
February 2019

Loss or oncogenic mutation of DROSHA impairs kidney development and function, but is not sufficient for Wilms tumor formation.

Int J Cancer 2019 03 3;144(6):1391-1400. Epub 2018 Dec 3.

Theodor-Boveri-Institute/Biocenter, Developmental Biochemistry, Wuerzburg University, Wuerzburg, Germany.

Wilms tumor (WT) is the most common kidney cancer in childhood. Mutations in the microprocessor genes DROSHA and DGCR8 have been identified as putative oncogenic drivers, indicating a critical role of aberrant miRNA processing in WT formation. To characterize the in vivo role of DROSHA mutations during kidney development and their oncogenic potential, we analyzed mouse lines with either a targeted deletion of Drosha or an inducible expression of human DROSHA carrying a tumor-specific E1147K mutation that acts in a dominant negative manner. Read More

View Article and Full-Text PDF

Changes in the West African forest-savanna mosaic, insights from central Togo.

PLoS One 2018 5;13(10):e0203999. Epub 2018 Oct 5.

Laboratoire de Recherche Forestière, Faculté des Sciences, Université de Lomé-Togo, Lomé, Togo.

The West African forest-savanna mosaic, an important habitat for biodiversity and humans, is severely degraded, fragmented and modified by human activities. However, few studies have quantified the land cover changes observed over time and/or analysed the drivers of change. This study focused on Fazao-Malfakassa National Park, the largest in Togo, uses a combination of remote sensing, ground surveys and questionnaires to: (i) quantify vegetation changes, (ii) determine the drivers of change, (iii) compare results with findings elsewhere in the region and (iv) suggest management interventions. Read More

View Article and Full-Text PDF