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https://www.readbyqxmd.com/read/29341473/somatic-mosaic-deletions-involving-scn1a-cause-dravet-syndrome
#1
Tojo Nakayama, Atsushi Ishii, Takeshi Yoshida, Hirosato Nasu, Keiko Shimojima, Toshiyuki Yamamoto, Shigeo Kure, Shinichi Hirose
Somatic mosaicism in single nucleotide variants of SCN1A is known to occur in a subset of parents of children with Dravet syndrome (DS). Here, we report recurrent somatic mosaic microdeletions involving SCN1A in children diagnosed with DS. Through the evaluation of 237 affected individuals with DS who did not show SCN1A or PCHD19 mutations in prior sequencing analyzes, we identified two children with mosaic microdeletions covering the entire SCN1A region. The allele frequency of the mosaic deletions estimated by multiplex ligation-dependent probe amplification and array comparative genomic hybridization was 25-40%, which was comparable to the mosaic ratio in lymphocytes and buccal mucosa cells observed by fluorescence in situ hybridization analysis...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341452/contribution-of-mlh1-constitutional-methylation-for-lynch-syndrome-diagnosis-in-patients-with-tumor-mlh1-downregulation
#2
Diana Pinto, Carla Pinto, Joana Guerra, Manuela Pinheiro, Rui Santos, Hege Marie Vedeld, Zeremariam Yohannes, Ana Peixoto, Catarina Santos, Pedro Pinto, Paula Lopes, Ragnhild Lothe, Guro Elisabeth Lind, Rui Henrique, Manuel R Teixeira
Constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, has been identified as an alternative mechanism that predisposes to the development of Lynch syndrome. In the present work, we aimed to investigate the prevalence of MLH1 constitutional methylation in colorectal cancer (CRC) patients with abnormal expression of the MLH1 protein in their tumors. In a series of 38 patients who met clinical criteria for Lynch syndrome genetic testing, with loss of MLH1 expression in the tumor and with no germline mutations in the MLH1 gene (35/38) or with tumors presenting the BRAF p...
January 17, 2018: Cancer Medicine
https://www.readbyqxmd.com/read/29341437/phenotypic-heterogeneity-of-zmpste24-deficiency
#3
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29340932/robotic-scanning-device-for-intraoperative-thyroid-gland-endomicroscopy
#4
Haibo Wang, Shuxin Wang, Jinhua Li, Siyang Zuo
Probe-based confocal laser endomicroscopy has a high potential to be a promising tool that can provide intraoperative high-resolution in vivo morphological imaging at cellular and subcellular levels for thyroidectomy, and allow real-time assessment of tumor margins. However, the typical images acquired with this technique cover a very small area limited by the field of view of the probe, accompanied by tissue deformation and inconsistent probe-tissue contact when operated manually. In this paper, a novel compact robotic device for large area scanning has been developed...
January 16, 2018: Annals of Biomedical Engineering
https://www.readbyqxmd.com/read/29340217/translational-cross-activation-of-the-encapsidated-rna-of-potexviruses
#5
M V Arkhipenko, N A Nikitin, E K Donchenko, O V Karpova, J G Atabekov
We had shown the genomic RNA of potexviruses potato virus X and the alternanthera mosaic virus to be inaccessible in vitro to ribosomes while in intact virion form, but the RNAs can be translationally activated following the binding of movement protein 1 (MP1) to virus particles. Here, we present the results of the follow-up study targeting two more potexvirus species - the Narcissus mosaic virus and the Potato aucuba mosaic virus. We found encapsidated potexviral RNA to share common translational features in vitro and the MP1 to be potent over homological virions of its "own" species and over heterological virions of other species, as well exhibiting selective specificity...
October 2017: Acta Naturae
https://www.readbyqxmd.com/read/29338027/distribution-of-cone-density-spacing-and-arrangement-in-adult-healthy-retinas-with-adaptive-optics-flood-illumination
#6
Richard Legras, Alain Gaudric, Kelly Woog
The aim of this article is to analyse cone density, spacing and arrangement using an adaptive optics flood illumination retina camera (rtx1™) on a healthy population. Cone density, cone spacing and packing arrangements were measured on the right retinas of 109 subjects at 2°, 3°, 4°, 5° and 6° of eccentricity along 4 meridians. The effects of eccentricity, meridian, axial length, spherical equivalent, gender and age were evaluated. Cone density decreased on average from 28 884 ± 3 692 cones/mm2, at 2° of eccentricity, to 15 843 ± 1 598 cones/mm2 at 6°...
2018: PloS One
https://www.readbyqxmd.com/read/29335549/reconstructing-an-african-haploid-genome-from-the-18th-century
#7
Anuradha Jagadeesan, Ellen D Gunnarsdóttir, S Sunna Ebenesersdóttir, Valdis B Guðmundsdóttir, Elisabet Linda Thordardottir, Margrét S Einarsdóttir, Hákon Jónsson, Jean-Michel Dugoujon, Cesar Fortes-Lima, Florence Migot-Nabias, Achille Massougbodji, Gil Bellis, Luisa Pereira, Gísli Másson, Augustine Kong, Kári Stefánsson, Agnar Helgason
A genome is a mosaic of chromosome fragments from ancestors who existed some arbitrary number of generations earlier. Here, we reconstruct the genome of Hans Jonatan (HJ), born in the Caribbean in 1784 to an enslaved African mother and European father. HJ migrated to Iceland in 1802, married and had two children. We genotyped 182 of his 788 descendants using single-nucleotide polymorphism (SNP) chips and whole-genome sequenced (WGS) 20 of them. Using these data, we reconstructed 38% of HJ's maternal genome and inferred that his mother was from the region spanned by Benin, Nigeria and Cameroon...
January 15, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29335417/europe-s-lost-forests-a-pollen-based-synthesis-for-the-last-11-000-years
#8
N Roberts, R M Fyfe, J Woodbridge, M-J Gaillard, B A S Davis, J O Kaplan, L Marquer, F Mazier, A B Nielsen, S Sugita, A-K Trondman, M Leydet
8000 years ago, prior to Neolithic agriculture, Europe was mostly a wooded continent. Since then, its forest cover has been progressively fragmented, so that today it covers less than half of Europe's land area, in many cases having been cleared to make way for fields and pasture-land. Establishing the origin of Europe's current, more open land-cover mosaic requires a long-term perspective, for which pollen analysis offers a key tool. In this study we utilise and compare three numerical approaches to transforming pollen data into past forest cover, drawing on >1000 14C-dated site records...
January 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29334735/complex-dynamics-of-photo-switchable-guest-molecules-in-all-optical-poling-close-to-glass-transition-kinetic-monte-carlo-modelling
#9
Wojciech Radosz, Grzegorz Pawlik, Antoni Mitus
We study theoretically the kinetics of non-interacting photo-switchable guest molecules (model azo-dye) dispersed at low concentration in host (model polymer matrix) in the all-optical poling process close to the glass transition temperature Tg. We modify kinetic Monte Carlo model used in our previous studies of nonlinear optical processes in host-guest systems. The polymer matrix is simulated using the bond-fluctuation model. The kinetics of multiple trans-cis-trans cycles is formulated in terms of transition probabilities which depend on local free volume in the matrix and its dynamics...
January 15, 2018: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29334364/compactness-of-viral-genomes-effect-of-disperse-and-localized-random-mutations
#10
Anže Lošdorfer Božič, Cristian Micheletti, Rudolf Podgornik, Luca Tubiana
Genomes of single-stranded RNA viruses have evolved to optimize several concurrent properties. One of them is the architecture of their genomic folds, which must not only feature precise structural elements at specific positions, but also allow for overall spatial compactness. The latter was shown to be disrupted by random synonymous mutations, a disruption which can consequently negatively affect genome encapsidation. In this study, we use three mutation schemes with different degrees of locality to mutate the genomes of phage MS2 and Brome Mosaic Virus in order to understand the observed sensitivity of the global compactness of their folds...
January 15, 2018: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#11
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332565/beyond-the-lock-and-key-paradigm-targeting-lipid-rafts-to-induce-the-selective-apoptosis-of-cancer-cells
#12
Anna Carolina Schneider Alves, Reinaldo Antonio Dias, Luciano Porto Kagami, Gustavo Machado das Neves, Fernando Cidade Torres, Vera Lucia Eifler-Lima, Ivone Carvalho, Carolina de Miranda Silva, Daniel Fabio Kawano
For more than 40 years, the fluid mosaic model of cellular membranes have supported our vision of an inert lipid bilayer containing membrane protein receptors that are randomly hit by extracellular molecules to trigger intracellular signaling events. However, the notion that compartmentalized cholesterol- and sphingomyelin-rich membrane microdomains (known as lipid rafts) spatially arrange receptors and effectors to promote kinetically favorable interactions necessary for the signal transduction sounds much more realistic...
January 10, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29331999/eighty-five-year-old-man-with-mosaic-attenuation-on-chest-imaging
#13
Faiza Khalid, Sofiya Rehman, Shikha Gupta
No abstract text is available yet for this article.
January 13, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29330664/an-iranian-genomic-sequence-of-beet-mosaic-virus-provides-insights-into-diversity-and-evolution-of-the-world-population
#14
Musa Mohammadi, Adrian J Gibbs, Ahmad Hosseini, Samin Hosseini
Beet mosaic virus (BtMV), the only Potyvirus known to infect sugar beet, occurs worldwide in beet crops. The full genome sequencing of a BtMV isolate from Iran (Ir-VRU), enabled us to better understand the evolutionary history of this virus. Selection analysis suggested that BtMV evolution is mainly under negative selection but its strength varies in different proteins with the multifunctional proteins under strongest selection. Recombination has played a major role in the evolution of the BtMVs; only the Ir-VRU and USA isolates show no evidence of recombination...
January 12, 2018: Virus Genes
https://www.readbyqxmd.com/read/29330492/turning-a-normal-microscope-into-a-super-resolution-instrument-using-a-scanning-microlens-array
#15
Gergely Huszka, Martin A M Gijs
We report dielectric microsphere array-based optical super-resolution microscopy. A dielectric microsphere that is placed on a sample is known to generate a virtual image with resolution better than the optical diffraction limit. However, a limitation of such type of super-resolution microscopy is the restricted field-of-view, essentially limited to the central area of the microsphere-generated image. We overcame this limitation by scanning a micro-fabricated array of ordered microspheres over the sample using a customized algorithm that moved step-by-step a motorized stage, meanwhile the microscope-mounted camera was taking pictures at every step...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330162/transcriptome-analyses-of-mosaic-msc-mitochondrial-mutants-of-cucumber-in-a-highly-inbred-nuclear-background
#16
Tomasz L Mróz, Sebastian Eves-van den Akker, Agata Bernat, Agnieszka Skarzyńska, Leszek Pryszcz, Madeline Olberg, Michael J Havey, Grzegorz Bartoszewski
Cucumber (Cucumis sativus L.) has a large, paternally transmitted mitochondrial genome. Cucumber plants regenerated from cell cultures occasionally show paternally transmitted mosaic (MSC) phenotypes, characterized by slower growth, chlorotic patterns on the leaves and fruit, lower fertility, and rearrangements in their mitochondrial DNAs (mtDNAs). MSC lines 3, 12, and 16 originated from different cell cultures all established using the highly-inbred, wild-type line B. These MSC lines possess different rearrangements and under-represented regions in their mtDNAs...
January 12, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29329145/orthopaedic-management-of-leg-length-discrepancy-in-proteus-syndrome-a-case-series
#17
Molly M Crenshaw, Cara G Goerlich, Lauren E Ivey, Julie C Sapp, Kim M Keppler-Noreuil, Allison C Scott, Leslie G Biesecker, Laura L Tosi
INTRODUCTION: Proteus syndrome (PS) is a rare mosaic disorder comprising asymmetric bony and soft tissue overgrowth leading to significant morbidity. Placement of growth inhibition hardware with subsequent epiphyseal arrest improves leg-length and angular deformities in pediatric patients without PS. The purpose of this study was to review the surgical approach and present outcomes, complications, and recommendations in 8 patients with PS and leg-length discrepancy (LLD). METHODS: We conducted a retrospective chart review of 8 patients with PS whose primary reason for surgery was LLD...
January 11, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29327438/establishing-rna-virus-resistance-in-plants-by-harnessing-crispr-immune-system
#18
Tong Zhang, Qiufeng Zheng, Xin Yi, Hong An, Yaling Zhao, Siqi Ma, Guohui Zhou
Recently, CRISPR-Cas (clustered, regularly interspaced short palindromic repeats-CRISPR associated proteins) system has been used to produce plants resistant to DNA virus infections. However, there is no RNA virus control method in plants that uses CRISPR-Cas system to target the viral genome directly. Here we reprogrammed the CRISPR-Cas9 system from Francisella novicida to confer molecular immunity against RNA viruses in Nicotiana benthamiana and Arabidopsis plants. Plants expressing FnCas9 and sgRNA specific for the cucumber mosaic virus (CMV) or tobacco mosaic virus (TMV) exhibited significantly attenuated virus infection symptoms and reduced viral RNA accumulation...
January 11, 2018: Plant Biotechnology Journal
https://www.readbyqxmd.com/read/29327236/complete-genome-sequence-and-construction-of-an-infectious-full-length-cdna-clone-of-a-german-isolate-of-celery-mosaic-virus
#19
Hanna Rose, Edgar Maiss
The complete genome sequence of a German isolate of celery mosaic virus (CeMV, a potyvirus) from Quedlinburg (DSMZ PV-1003) was determined (MF962880). This represents the second fully sequenced genome of this virus, along with a Californian isolate (HQ676607.1). The positive-sense single-stranded RNA is 10,000 nucleotides in length and shows the typical organization of potyviruses but has a shorter PIPO than CeMV California. In comparison to CeMV isolates from different origins, CeMV-Quedlinburg and isolates from the Netherlands (AF203531...
January 11, 2018: Archives of Virology
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#20
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
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