Results 61 to 70 of about 399,190 (328)

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
wiley   +1 more source

Simultaneous Determination of Four DNA bases at Graphene Oxide/Multi-Walled Carbon Nanotube Nanocomposite-Modified Electrode

Micromachines, 2020
In this study, we developed a modified glassy carbon electrode (GCE) with graphene oxide, multi-walled carbon nanotube hybrid nanocomposite in chitosan (GCE/GO-MWCNT-CHT) to achieve simultaneous detection of four nucleobases (i.e., guanine (G), adenine ...
Shuting Wang, Celia Ferrag, Meissam Noroozifar, Kagan Kerman   +3 more
doaj   +1 more source

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons [PDF]

, 2017
Mutations in the gene encoding valosin-containing protein (VCP) lead to multisystem proteinopathies including frontotemporal dementia. We have previously shown that patient-derived VCP mutant fibroblasts exhibit lower mitochondrial membrane potential ...
Abramov, Andrey Y. Abramov, Angelova, Bartolome, Bobba, Brand, Brown, Charles Arber, Ding, Edri, Elisavet Preza, Eva Carro, Fernando Bartolome, Ganote, Henry Houlden, Imamura, Johnson, Kokoszka, Krauss, Ludtmann, Macarena de Vicente, Marthe H.R. Ludtmann, Meyer, Muqit, Nalbandian, Nalbandian, Nalbandian, Okita, Papkovskaia, Plun-Favreau, Schirris, Selina Wray, Shi, Shi, Sonia Gandhi, Sposito, Vallier, Vieira, Weihl, Weinbach, Weydt, Wray, Yin, Zhivotovsky   +43 more
core   +2 more sources

Stage‐Dependent Inhibitory Connectivity in Striatal‐Motor Circuit in Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Elucidating dysfunctional connectivity patterns among key brain regions in Huntington's disease (HD) underlying progression may have implications for developing treatment and therapeutic evaluation. Objective Explore the relationship between abnormal spontaneous resting‐state activity and atrophy in HD‐specific brain regions and ...
Yinghua Jing, Imis Dogan, Rena Theda Overbeck, Kathrin Reetz, Sandro Romanzetti   +4 more
wiley   +1 more source

Synthesis, Cyclopolymerization and Cyclo-Copolymerization of 9-(2-Diallylaminoethyl)adenine and Its Hydrochloride Salt

Molecules, 2012
We report herein the synthesis and characterization of 9-(2-diallylaminoethyl) adenine. We evaluated two different synthetic routes starting with adenine where the optimal route was achieved through coupling of 9-(2-chloroethyl)adenine with diallylamine.
Karyn Usher, Alaa Ezzeddine, Lara Abramian, Kamal H. Bouhadir, Nikolay Vladimirov   +4 more
doaj   +1 more source

The Effects of Gum Acacia on the Composition of the Gut Microbiome and Plasma Levels of Short-Chain Fatty Acids in a Rat Model of Chronic Kidney Disease

Frontiers in Pharmacology, 2020
Chronic kidney disease (CKD) may be fatal for its victims and is an important long-term public health problem. The complicated medical procedures and diet restrictions to which patients with CKD are subjected alter the gut microbiome in an adverse manner,
Maha Al-Asmakh, Maha Al-Asmakh, Muhammad Umar Sohail, Ola Al-Jamal, Banan Mosaad Shoair, Asmaa Yousef Al-Baniali, Salma Bouabidi, Shahd Nasr, Hiba Bawadi   +8 more
doaj   +1 more source

Charge-Transfer Matrix Elements by FMO-LCMO Approach: Hole Transfer in DNA with Parameter Tuned Range-Separated DFT [PDF]

, 2015
A scheme for computing charge-transfer matrix elements with the linear combination of fragment molecular orbitals and the 'nonempirically tuned range-separated' density functional is presented.
Ando, Koji, Kitoh-Nishioka, Hirotaka
core   +2 more sources

Consolidate Overview of Ribonucleic Acid Molecular Dynamics: From Molecular Movements to Material Innovations

Advanced Engineering Materials, EarlyView.
Molecular dynamics simulations are advancing the study of ribonucleic acid (RNA) and RNA‐conjugated molecules. These developments include improvements in force fields, long‐timescale dynamics, and coarse‐grained models, addressing limitations and refining methods.
Kanchan Yadav, Iksoo Jang, Jong Bum Lee
wiley   +1 more source

Two New Constituents from Artemisia capillaris Thunb.

Molecules, 2008
Two new compounds, 6′-O-caffeoyl-p-hydroxyacetophenone-4-O-β-D-glucopyranoside(1) and 6-amino-9-[1-(3,4-dihydroxyphenyl)ethyl]-9H-purine (2) wereisolated from the aerial parts of Artemisia capillaris Thunb.
Yue-Hu Pei, Min Hong, Yu-Zhi Zhou, Yi Sun, Hong-Yu Ma   +4 more
doaj   +1 more source

Non-Empirically Tuned Range-Separated DFT Accurately Predicts Both Fundamental and Excitation Gaps in DNA and RNA Nucleobases [PDF]

, 2012
Using a non-empirically tuned range-separated DFT approach, we study both the quasiparticle properties (HOMO-LUMO fundamental gaps) and excitation energies of DNA and RNA nucleobases (adenine, thymine, cytosine, guanine, and uracil).
Foster, Michael E., Wong, Bryan M.
core   +2 more sources