Results 141 to 150 of about 369,753 (339)

Majority‐Voting Overlapping Method for Error Correction in DNA Data Storage

open access: yesAdvanced Intelligent Discovery, EarlyView.
We propose an overlapping‐based majority‐voting method for DNA data storage error correction. By aligning multiple reads and choosing the most frequent base per position, it suppresses substitution errors without prior models. Validated on synthetic and real sequencing data, it achieves high‐fidelity, scalable, and cost‐effective reconstruction ...
Thi Bich Ngoc Nguyen   +5 more
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Thermodynamic and kinetic insights into stop codon recognition by release factor 1. [PDF]

open access: yes, 2014
Stop codon recognition is a crucial event during translation termination and is performed by class I release factors (RF1 and RF2 in bacterial cells). Recent crystal structures showed that stop codon recognition is achieved mainly through a network of ...
Joseph, Simpson   +2 more
core  

Tight-binding parameters for charge transfer along DNA

open access: yes, 2009
We systematically examine all the tight-binding parameters pertinent to charge transfer along DNA. The $\pi$ molecular structure of the four DNA bases (adenine, thymine, cytosine, and guanine) is investigated by using the linear combination of atomic ...
A. Holmen   +105 more
core   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

Refinement of synthetic guanine crystals for fast diamagnetic rotation

open access: yesAIP Advances, 2019
Synthetic guanine crystals, with the same magnetic controllable reflection property as a biogenic guanine crystal from fish scales, were prepared using a classical Ostwald ripening method for crude crystals, from the aqueous sodium hydroxide solution of ...
Archana Mootha   +6 more
doaj   +1 more source

Ribozyme für die RNA‐katalysierte Methylierung und Markierung von RNA

open access: yesAngewandte Chemie, EarlyView.
Ribozyme sind vielseitige Werkzeuge für die präzise Modifikation von RNA. Das Reaktionsspektrum in‐vitro‐selektierter Ribozyme reicht vom Einbau funktioneller Gruppen und Fluorophoren bis zu natürlichen RNA‐Methylierungen. Dieser Übersichtsartikel präsentiert Cofaktor‐abhängige Ribozyme für die positionsgenaue Markierung und Modifikation von RNA ...
Carolin P. M. Scheitl   +1 more
wiley   +1 more source

Ribozymes for RNA‐Catalyzed RNA Methylation and Labeling

open access: yesAngewandte Chemie International Edition, EarlyView.
Ribozymes are powerful tools for site‐specific RNA modification. Their activities range from installing tags and fluorophores to generating natural RNA methylations, making them valuable tools to uncover the many functions that RNA plays in nature.
Carolin P. M. Scheitl   +1 more
wiley   +1 more source

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis   +5 more
wiley   +1 more source

Serotonin 5‐HT7 receptor signaling in neuropsychiatric disorders

open access: yesBulletin of the Korean Chemical Society, EarlyView.
5‐HT7R recruits Gs, G12, and β‐arrestin signaling to regulate neuronal plasticity, circuit function, and kinase‐linked intracellular responses. This review summarizes how these pathway‐selective modules contribute to autism spectrum disorder, depression, and schizophrenia, highlighting 5‐HT7R as a pathway‐informed therapeutic target. Abstract Serotonin
Eunseo Park, Hyunah Choo
wiley   +1 more source

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