Results 141 to 150 of about 86,970 (297)

Mobile genetic elements on the ST8 USA300 FPR3757

, 2019
This file contains the genomic coordinates of mobile genetic elements on the reference genome of clonal complex 8 Staphylococcus aureus USA300 FPR3757 strain (Genbank accession number CP000255.1)
Francesc Coll (5727779), Mathew T. G. Holden (245481), Sharon J. Peacock (35782), Kathy Raven (3571811), Julian Parkhill (30393), Sandra Reuter (494672)   +5 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Mobile genetic elements on the ST22 strain HO 5096 0412

, 2018
This file contains the genomic coordinates of mobile genetic elements on the clonal complex 22 Staphylococcus aureus reference genome (Genbank accession number HE681097).
Francesc Coll (5727779), Mathew T. G. Holden (245481), Sharon J. Peacock (35782), Kathy Raven (3571811), Julian Parkhill (30393), Sandra Reuter (494672)   +5 more
core   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Helitrons in Drosophila : Chromatin modulation and tandem insertions

, 2016
Although Helitrons were discovered 15 y ago, they still represent an elusive group of transposable elements (TEs). They are thought to transpose via a rolling-circle mechanism, but no transposition assay has yet been conducted.
Dias, Guilherme,, Heringer, Pedro, Kuhn, Gustavo C S   +2 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

New Viruses Infecting Hyperthermophilic Bacterium Thermus thermophilus

Viruses
Highly diverse phages infecting thermophilic bacteria of the Thermus genus have been isolated over the years from hot springs around the world. Many of these phages are unique, rely on highly unusual developmental strategies, and encode novel enzymes ...
Matvey Kolesnik, Constantine Pavlov, Alina Demkina, Aleksei Samolygo, Karyna Karneyeva, Anna Trofimova, Olga S. Sokolova, Andrei V. Moiseenko, Maria Kirsanova, Konstantin Severinov   +9 more
doaj   +1 more source

Problematic Internet Use in Frontotemporal Dementia: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso, Giuseppe Volpe, Agnese Valguarnera, Davide Vilella, Alessandra Vitulli, Valentina Gnoni, Alessia Giugno, Eleonora Rollo, Mark D. Griffiths, Giancarlo Logroscino   +9 more
wiley   +1 more source

The interplay of restriction-modification systems with mobile genetic elements and their prokaryotic hosts

, 2014
International audienceThe roles of restriction-modification (R-M) systems in providing immunity against horizontal gene transfer (HGT) and in stabilizing mobile genetic elements (MGEs) have been much debated. However, few studies have precisely addressed
Oliveira, P. H., Touchon, M., Marie Touchon, Pedro H. Oliveira, Eduardo P. C. Rocha, Rocha, E. P. C.   +5 more
core   +1 more source

Mobile Genetic Elements [PDF]

Journal of Medical Genetics, 1984
openaire   +1 more source