Results 221 to 230 of about 279,378 (380)

New insights into applications of base editor in hereditary disorders

open access: yesInterdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai   +8 more
wiley   +1 more source

mtFFPECleaner: A high‐fidelity machine learning approach for artifact removal in high‐throughput mitochondrial DNA sequencing data of archival formalin‐fixed paraffin‐embedded specimens

open access: yesInterdisciplinary Medicine, EarlyView.
mtFFPECleaner is a high‐fidelity machine learning framework designed to remove formalin‐induced artifacts in mitochondrial DNA sequencing data from formalin‐fixed paraffin‐embedded (FFPE) tissue samples. Using paired FFPE‐fresh‐frozen samples, the model distinguishes genuine mtDNA mutations from artifacts through feature extraction and random forest ...
Shengjing Li   +9 more
wiley   +1 more source

Central Nervous System Involvement as the Initial Manifestation of Transthyretin Amyloidosis: A Case Report and Literature Review

open access: yesiRADIOLOGY, EarlyView.
We reported a patient who presented with transient focal neurological symptoms. The contrast‐enhanced brain magnetic resonance imaging (MRI) of this patient demonstrated significant enhancement of the dura mater, pia mater, and spinal meninges. Based on the positive result of single photon emission computed tomography (SPECT), we promptly determined ...
Fen Li   +6 more
wiley   +1 more source

Tuning i-motif folding and stability with acyclic phosphonate-linked (ZNA) cytidine residues. [PDF]

open access: yesRSC Adv
Derden M   +8 more
europepmc   +1 more source

High-dose cytosine arabinoside and mitoxantrone: a highly effective regimen in refractory acute myeloid leukemia [PDF]

open access: bronze, 1987
Wolfgang Hiddemann   +8 more
openalex   +1 more source

Nanomaterial‐Enhanced Electrochemical Sensors for Clinical Monitoring of Acyclovir: Integration Into Molecular Diagnostics

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Schematic illustration of biosensor technology for detection of ACV. ABSTRACT Objective This study investigates the innovative application of nanomaterial‐based micro‐devices aimed at enhancing the diagnosis and management of acyclovir (ACV) for herpes virus infections, specifically those caused by HSV‐1, HSV‐2, CMV, and VZV.
Mohammad Darvishi   +5 more
wiley   +1 more source

Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition

open access: yesJournal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy   +7 more
wiley   +1 more source

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