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https://www.readbyqxmd.com/read/28503804/neural-correlates-of-visuomotor-adjustments-during-scaling-of-human-finger-movements-fmri-during-visuomotor-scaling-of-finger-movements
#1
Johannes Brand, Lars Michels, Romy Bakker, Marie-Claude Hepp-Reymond, Daniel Kiper, Manfred Morari, Kynan Eng
Visually guided finger movements include online feedback of current effector position to guide target approach. This visual feedback may be scaled or otherwise distorted by unpredictable perturbations. Although adjustments to visual feedback scaling have been studied before, the underlying brain activation differences between upscaling (visual feedback larger than real movement) and downscaling (feedback smaller than real movement) are currently unknown. Brain activation differences between upscaling and downscaling might be expected because within-trial adjustments during upscaling require corrective backwards accelerations, whereas correcting for downscaling requires forward accelerations...
May 15, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/28496997/a-new-split-hand-foot-malformation-with-long-bone-deficiency-familial-case
#2
Carmela Fusco, Pasquelena De Nittis, Ali Abdullah Alfaiz, Maria Teresa Pellico, Bartolomeo Augello, Natascia Malerba, Leopoldo Zelante, Alexandre Reymond, Giuseppe Merla
Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the BHLHA9 gene, has been associated with the distinct entity, termed SHFLD3 (OMIM 612576), inherited as an autosomal dominant trait. Here, we present a family with three members affected by SHFLD harboring BHLHA9 duplication...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28455184/arabidopsis-glucosinolates-trigger-a-contrasting-transcriptomic-response-in-a-generalist-and-a-specialist-herbivore
#3
Fabian Schweizer, Hanna Heidel-Fischer, Heiko Vogel, Philippe Reymond
Phytophagous insects have to deal with toxic defense compounds from their host plants. Although it is known that insects have evolved genes and mechanisms to detoxify plant allochemicals, how specialist and generalist precisely respond to specific secondary metabolites at the molecular level is less understood. Here we studied the larval performance and transcriptome of the generalist moth Heliothis virescens and the specialist butterfly Pieris brassicae feeding on Arabidopsis thaliana genotypes with different glucosinolate (GS) levels...
April 26, 2017: Insect Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28446340/peptide-dendrimer-lipid-conjugates-as-dna-and-sirna-transfection-reagents-role-of-charge-distribution-across-generations
#4
Marc Heitz, Albert Kwok, Gabriela A Eggimann, Florian Hollfelder, Tamis Darbre, Jean-Louis Reymond
Transfection reagents are used to deliver DNA and siRNA into cells to achieve genetic manipulations, and may ultimately enable nonviral gene therapy. Progress in transfection reagents is limited by the fact that such reagents cannot be easily optimized due to their polymeric nature and/or difficult synthesis. We have developed a new class of well-defined and easily modifiable transfection reagents in the form of peptide dendrimers. These dendrimers self-assemble with DNA or siRNA and lipofectin to form nanoparticles which efficiently enter mammalian cells and liberate their nucleic acid cargo...
April 26, 2017: Chimia
https://www.readbyqxmd.com/read/28437462/correction-virtual-hand-feedback-reduces-reaction-time-in-an-interactive-finger-reaching-task
#5
Johannes Brand, Marco Piccirelli, Marie-Claude Hepp-Reymond, Manfred Morari, Lars Michels, Kynan Eng
[This corrects the article DOI: 10.1371/journal.pone.0154807.].
2017: PloS One
https://www.readbyqxmd.com/read/28375006/fragment-database-fdb-17
#6
Ricardo Visini, Mahendra Awale, Jean-Louis Reymond
To better understand chemical space we recently enumerated the database GDB-17 containing 166.4 billion possible molecules up to 17 atoms of C, N, O, S and halogen following the simple rules of chemical stability and synthetic feasibility. However, due to the combinatorial explosion caused by systematic enumeration GDB-17 is strongly biased toward the largest, functionally and stereochemically most complex molecules and far too large for most virtual screening tools. Herein we selected a much smaller subset of GDB-17, called the fragment database FDB-17, which contains 10 million fragmentlike molecules evenly covering a broad value range for molecular size, polarity, and stereochemical complexity...
April 24, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28351929/genetic-heterogeneity-in-therapy-na%C3%A3-ve-synchronous-primary-breast-cancers-and-their-metastases
#7
François-Clément Bidard, Charlotte K Y Ng, Salvatore Piscuoglio, Felipe C Geyer, Reymond Lim, Ino De Bruijn, Ronglai Shen, Fresia Pareja, Samuel Berman, Lu Wang, Jean-Yves Pierga, Anne Vincent-Salomon, Agnes Viale, Larry Norton, Brigitte Sigal, Britta Weigelt, Paul Cotu, Jorge S Reis-Filho
PURPOSE: Paired primary breast cancers and metachronous metastases after adjuvant treatment differed in their clonal composition and genetic alterations, but it is unclear whether the differences stem from the selective pressures of the metastatic process, the systemic therapies or both. We sought to define the repertoire of genetic alterations in breast cancer patients with de novo metastatic disease who had not received local or systemic therapy. EXPERIMENTAL DESIGN: Up to two anatomically distinct core biopsies of primary breast cancers and synchronous distant metastases from nine patients who presented with metastatic disease were subjected to high-depth whole-exome sequencing...
March 28, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28319682/n-substituted-5-amino-1-hydroxymethyl-cyclopentanetriols-a-new-family-of-activity-promotors-for-a-gm1-gangliosidosis-related-human-lysosomal-%C3%AE-galactosidase-mutant
#8
Michael Schalli, Christina Tysoe, Roland Fischer, Bettina M Pabst, Martin Thonhofer, Eduard Paschke, Tanja Rappitsch, Arnold E Stütz, Marion Tschernutter, Werner Windischhofer, Stephen G Withers
From 1,2;3,4-di-O-isopropylidene-α-D-galactopyranose, a series of highly functionalized (hydroxymethyl)cyclopentanes was easily available. In line with reports by Reymond and Jäger on similar structures, these amine containing basic carbasugars are potent inhibitors of β-D-galactosidases and, for the first time, could be shown to act as pharmacological chaperones for GM1-gangliosidosis-associated lysosomal acid β-galactosidase mutant R201C, thus representing a new structural type of pharmacological chaperones for this lysosomal storage disease...
March 11, 2017: Carbohydrate Research
https://www.readbyqxmd.com/read/28316236/webmolcs-a-web-based-interface-for-visualizing-molecules-in-three-dimensional-chemical-spaces
#9
Mahendra Awale, Daniel Probst, Jean-Louis Reymond
The concept of chemical space provides a convenient framework to analyze large collections of molecules by placing them in property spaces where distances represent similarities. Here we report webMolCS, a new type of web-based interface visualizing up to 5000 user-defined molecules in six different three-dimensional (3D) chemical spaces obtained by principal component analysis or similarity mapping of multidimensional property spaces describing composition (MQN: 42D molecular quantum numbers, SMIfp: 34D SMILES fingerprint), shapes and pharmacophores (APfp: 20D atom pair fingerprint, Xfp: 55D category extended atom pair fingerprint), and substructures (Sfp: 1024D binary substructure fingerprint, ECfp4:1024D extended connectivity fingerprint)...
April 24, 2017: Journal of Chemical Information and Modeling
https://www.readbyqxmd.com/read/28270862/the-polypharmacology-browser-a-web-based-multi-fingerprint-target-prediction-tool-using-chembl-bioactivity-data
#10
Mahendra Awale, Jean-Louis Reymond
BACKGROUND: Several web-based tools have been reported recently which predict the possible targets of a small molecule by similarity to compounds of known bioactivity using molecular fingerprints (fps), however predictions in each case rely on similarities computed from only one or two fps. Considering that structural similarity and therefore the predicted targets strongly depend on the method used for comparison, it would be highly desirable to predict targets using a broader set of fps simultaneously...
2017: Journal of Cheminformatics
https://www.readbyqxmd.com/read/28204532/characterization-of-the-single-subunit-oligosaccharyltransferase-stt3a-from-trypanosoma-brucei-using-synthetic-peptides-and-lipid-linked-oligosaccharide-analogs
#11
Ana S Ramírez, Jérémy Boilevin, Rasomoy Biswas, Bee Ha Gan, Daniel Janser, Markus Aebi, Tamis Darbre, Jean-Louis Reymond, Kaspar P Locher
The initial transfer of a complex glycan in protein N-glycosylation is catalyzed by oligosaccharyltransferase (OST), which is generally a multisubunit membrane protein complex in the endoplasmic reticulum but a single-subunit enzyme (ssOST) in some protists. To investigate the reaction mechanism of ssOST, we recombinantly expressed, purified and characterized the STT3A protein from Trypanosoma brucei (TbSTT3A). We analyzed the in vitro activity of TbSTT3A by synthesizing fluorescently labeled acceptor peptides as well as lipid-linked oligosaccharide (LLO) analogs containing a chitobiose moiety coupled to oligoprenyl carriers of distinct lengths (C10, C15, C20 and C25) and with different double bond stereochemistry...
June 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/28183275/diversity-and-regulatory-impact-of-copy-number-variation-in-the-primate-macaca-fascicularis
#12
Andreas R Gschwind, Anjali Singh, Ulrich Certa, Alexandre Reymond, Tobias Heckel
BACKGROUND: Copy number variations (CNVs) are a significant source of genetic diversity and commonly found in mammalian genomes. We have generated a genome-wide CNV map for Cynomolgus monkeys (Macaca fascicularis). This crab-eating macaque is the closest animal model to humans that is used in biomedical research. RESULTS: We show that Cynomolgus monkey CNVs are in general much smaller in size than gene loci and are specific to the population of origin. Genome-wide expression data from five vitally important organs demonstrates that CNVs in close proximity to transcription start sites associate strongly with expression changes...
February 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28175184/p628-anti-tnf-therapy-in-refractory-pouchitis-and-crohn-s-disease-like-complications-of-the-pouch-after-ileal-pouch-anal-anastomosis-following-colectomy-for-ulcerative-colitis-a-systematic-review-and-meta-analysis
#13
M Huguet, B Pereira, M Goutte, F Goutorbe, C Allimant, M Reymond, G Bommelaer, A Buisson
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28174918/dop013-definition-of-therapeutic-response-criteria-using-mri-in-crohn-s-disease-patients-treated-with-anti-tnf-therapy-a-multicenter-prospective-study-the-irma-study
#14
A Buisson, L Messadeg, G Bouguen, F Goutorbe, J-M Reimund, M Goutte, C Sautel, C Duron, J Scanzi, M Reymond, C Allimant, M Dapoigny, G Bommelaer, B Pereira, C Hordonneau
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28173015/p572-medical-therapies-for-stricturing-crohn-s-disease-efficacy-and-cross-sectional-imaging-predictors-of-therapeutic-failure
#15
C Campos, A Perrey, C Lambert, B Pereira, M Goutte, F Goutorbe, A Dubois, M Reymond, C Allimant, M Dapoigny, G Bommelaer, C Hordonneau, A Buisson
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28172656/p123-mri-remission-after-therapeutic-intervention-is-associated-with-more-time-spent-in-clinical-corticosteroids-free-remission-and-decreased-risk-of%C3%A2-surgery-in-crohn-s-disease
#16
A Buisson, C Hordonneau, F Goutorbe, C Allimant, M Goutte, M Reymond, B Pereira, G Bommelaer
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28172634/p272-faecal-calprotectin-and-magnetic-resonance-imaging-are-highly-accurate-to-detect-endoscopic-postoperative-recurrence-in-crohn-s-disease
#17
P Baillet, G Cadiot, M Goutte, F Goutorbe, C Allimant, M Reymond, H Obritin, G Bommelaer, B Pereira, C Hordonneau, A Buisson
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28172556/p122-magnetic-resonance-index-of-activity-maria-and-clermont-score-are-two-mri-indices-which-are-highly-and-equally-effective-in-detecting-mucosal-healing-in-crohn-s-disease
#18
A Buisson, B Pereira, M Goutte, M Reymond, C Allimant, G Bommelaer, C Hordonneau
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28153863/the-landscape-of-somatic-genetic-alterations-in-metaplastic-breast-carcinomas
#19
Charlotte K Y Ng, Salvatore Piscuoglio, Felipe C Geyer, Kathleen A Burke, Fresia Pareja, Carey Eberle, Reymond Lim, Rachael Natrajan, Nadeem Riaz, Odette Mariani, Larry Norton, Anne Vincent-Salomon, Y Hannah Wen, Britta Weigelt, Jorge S Reis-Filho
PURPOSE: Metaplastic breast carcinoma (MBC) is a rare and aggressive histologic type of breast cancer predominantly of triple-negative phenotype, and characterized by the presence of malignant cells showing squamous and/or mesenchymal differentiation. We sought to define the repertoire of somatic genetic alterations and the mutational signatures of MBCs. EXPERIMENTAL DESIGN: Whole-exome sequencing was performed in 35 MBCs, with 16, ten and nine classified as harboring chondroid, spindle and squamous metaplasia as the predominant metaplastic component...
February 2, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28094839/improved-fluorescence-assays-to-measure-the-defects-associated-with-f508del-cftr-allow-identification-of-new-active-compounds
#20
Emily Langron, Michela I Simone, Clémence M S Delalande, Jean-Louis Reymond, David L Selwood, Paola Vergani
BACKGROUND AND PURPOSE: Cystic fibrosis (CF) is a debilitating disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which codes for a Cl-/HCO3 - channel. F508del, the most common CF-associated mutation, causes both gating and biogenesis defects in the CFTR protein. This paper describes the optimization of two fluorescence assays, capable of measuring CFTR function and cellular localization, and their use in a pilot drug screen. EXPERIMENTAL APPROACH: HEK293 cells expressing YFP-F508del-CFTR, in which halide sensitive YFP is tagged to the N-terminal of CFTR, were used to screen a small library of compounds based on the VX-770 scaffold...
April 2017: British Journal of Pharmacology
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