Results 71 to 80 of about 4,048 (215)
CNV Radar: an improved method for somatic copy number alteration characterization in oncology
BMC Bioinformatics, 2020 Background Cancer associated copy number variation (CNV) events provide important information for identifying patient subgroups and suggesting treatment strategies.
David Soong +15 more
doaj +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Cognitive Evoked Potentials P300 And CNV In Patients' With Parkinson Disease
Revista Cubana de Investigaciones Biomédicas, 2019 Introduction: A descriptive and traverse study was performed in patients with Parkinson's disease of the Neurology and Neurophysiology department of the Santiago General Hospital "Dr.
Iván Delgado Suárez +2 more
doaj
Eine Universelle Nukleosid‐zu‐Nukleosid‐5′‐triphosphat‐Enzymkaskade angetrieben durch Polyphosphat
Angewandte Chemie, EarlyView.Nukleosid‐5′‐Triphosphate (NTPs) sind wichtige Bausteine für Nukleinsäuren. Ihre chemische Synthese ist aufgrund der geringen Ausbeute der 5′‐Triphosphorylierungsreaktion nur wenig effizient. Wir stellen hier eine universelle, durch Polyphosphat angetriebene Zwei‐Enzym‐Kaskade vor, die eine direkte Phosphorylierung von Nukleosiden zu NTPs ermöglicht ...
Jonathan P. Suess +1 more
wiley +1 more source
Journal of Ophthalmology, 2016 Purpose. To describe the morphological characteristics and efficacy of OCTA in detecting CNV in nAMD. We retrospectively reviewed 53 patients (86 eyes) with suspected CNV secondary to wet AMD.
Jingwen Gong +4 more
doaj +1 more source
A Universal Nucleoside‐to‐Nucleoside‐5′‐Triphosphate Enzyme Cascade Driven by Polyphosphate
Angewandte Chemie International Edition, EarlyView.Nucleoside‐5′‐triphosphates (NTPs) are essential components for the generation of nucleic acids, yet their chemical synthesis is hindered by the low yield of nucleoside phosphorylation. Here, we present a universal, two‐enzyme nucleoside‐to‐NTP cascade that is driven by polyphosphate.
Jonathan P. Suess +1 more
wiley +1 more source
Journal of Ophthalmology, 2013 Purpose. To investigate aqueous concentrations of vascular endothelial growth factor (VEGF) in eyes with myopic choroidal neovascularization (CNV). Methods.
Taku Wakabayashi +4 more
doaj +1 more source
A Snapshot of CNVs in the Pig Genome
PLoS ONE, 2008 Recent studies of mammalian genomes have uncovered the extent of copy number variation (CNV) that contributes to phenotypic diversity, including health and disease status. Here we report a first account of CNVs in the pig genome covering part of the chromosomes 4, 7, 14, and 17 already sequenced and assembled.
João Fadista +5 more
openaire +5 more sources
Chronic Diseases and Translational Medicine, EarlyView.Features the major cell type compositions among colon and liver metastasis. (A) The study design for single‐cell data analysis. (B) The annotated major cell types. Each type was labeled with a special color. (C) Dot plot of canonical marker genes for major cell types. (D) Bar plot of the percentage for each cell type in individuals. (E) Bar plot of the
Zhixun Zhao +10 more
wiley +1 more source
Clinical Pharmacology &Therapeutics, EarlyView.CYP2D6 metabolizes about 20% of commonly used drugs, including tamoxifen, a major hormone therapy for breast cancer. Although the relationship between tamoxifen pharmacokinetics and CYP2D6 genotype has been demonstrated, residual variability in drug exposure remains unexplained.
Jeanne Petit +7 more
wiley +1 more source