Results 111 to 120 of about 52,855 (250)

Codon bias targets mutation [PDF]

open access: yesNature, 1995
S D, Wagner, C, Milstein, M S, Neuberger
openaire   +2 more sources

Revolutionizing Healthcare With Paper‐Based Nucleic Acid Testing

open access: yesExploration, EarlyView.
This work summarizes strategies to enhance paper‐based devices for nucleic acid testing. Key approaches include optimizing paper platforms, improving nucleic acid amplification, and refining labeling/signaling methods. These advancements aim to boost sensitivity, speed, and usability, making paper‐based diagnostics more effective for point‐of‐care ...
Hong Zhang   +8 more
wiley   +1 more source

First Report of Co‐Inheritance of Hemoglobin British Columbia (HBB:c.304G>A) and β‐Thalassemia IVS‐I‐6 (HBB:c.92+6T>C): Clinical Characterization of an Iranian Case

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
ABSTRACT Background Hemoglobin British Columbia is a rare high‐oxygen‐affinity β‐globin variant caused by the HBB:c.304G>A substitution. Its detection is exceptionally uncommon, particularly in the Middle East, and may lead to diagnostic pitfalls when relying solely on hemoglobin separation techniques.
Kimia Fathalizade   +5 more
wiley   +1 more source

Performance Evaluation of a Premier Resolution HPLC System for Detecting Hemoglobin Constant Spring, Hemoglobin Paksé, and Coexisting α‐ and β‐Thalassemia Mutations

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study compared Premier Resolution HPLC with Capillary Electrophoresis for detecting HbCS/Hb Paksé variants and coexisting thalassemia mutations. Premier Resolution HPLC demonstrated superior performance with 50% fewer false negative cases (11 vs. 22) compared to Capillary Electrophoresis, particularly in heterozygous cases.
Surada Satthakarn   +2 more
wiley   +1 more source

Beta‐Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion‐Dependent Thalassemia

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This nationwide registry‐based study describes the clinical and molecular characteristics of 78 patients with transfusion‐dependent beta‐thalassemia in Spain. Comprehensive genetic analysis revealed marked molecular heterogeneity, with 24 HBB mutations identified and a predominance of β0 genotypes, alongside generally effective transfusion and iron ...
Ana Villegas   +41 more
wiley   +1 more source

Comparative Analysis of Codon Bias in the Chloroplast Genomes of Theaceae Species. [PDF]

open access: yesFront Genet, 2022
Wang Z   +9 more
europepmc   +1 more source

Oncogenic KRAS Rewires Stress Granule Dynamics: Mechanisms and Therapeutic Opportunities

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Stress granules (SGs) are dynamic, membrane‐less structures that form in response to various cellular stresses, including metabolic, oxidative, and therapeutic challenges. They function as adaptive hubs and reorganize protein synthesis and signaling networks to help cells survive under stress. In cancer, these condensates are often hijacked to
Msimisi Ndzinisa   +2 more
wiley   +1 more source

Strategies and Patterns of Codon Bias in Molluscum Contagiosum Virus. [PDF]

open access: yesPathogens, 2021
Nair RR   +4 more
europepmc   +1 more source

Five‐Year Outcomes With Delandistrogene Moxeparvovec in Patients With Duchenne Muscular Dystrophy: A Phase 1/2a Study

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Aims We report 5‐year results from a phase 1/2a study of delandistrogene moxeparvovec, a recombinant adeno‐associated virus serotype rh74 vector‐based gene therapy for Duchenne muscular dystrophy (DMD), with post hoc analyses contextualizing functional outcomes. Methods Four ambulatory patients with DMD (≥ 4–< 8 years at enrollment) entered an
Jerry R. Mendell   +10 more
wiley   +1 more source

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