Results 41 to 50 of about 22,655 (235)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill   +5 more
wiley   +1 more source

Reticulocyte hemoglobin and its importance in early diagnosis of iron deficiency anemia

open access: yesUniversidad y Salud, 2018
Introduction: The reticulocyte hemoglobin content (CHr) is a parameter in automated hematological biometrics, which can provide information on the iron content.
Yusselfy Márquez-Benítez   +2 more
doaj   +1 more source

Improved Messenger RNA Stability and Biocompatibility Through Self‐Gelatinizable Nucleic Acids

open access: yesBiotechnology and Bioengineering, EarlyView.
ABSTRACT Recent advances in the chemical synthesis and modification of messenger RNA (mRNA) have generated growing interest in mRNA‐based therapeutics. However, the inherent instability of mRNA in vivo and during storage remains a major challenge, requiring the development of safe and effective delivery systems.
Takumi Tanifuji   +5 more
wiley   +1 more source

Exosome as bioactive nanovesicle for diagnostic and therapeutic applications in periodontitis

open access: yesBMEMat, EarlyView.
This review introduces the mechanism that exosomes participate in the pathogenesis of periodontitis and their potential as biomarkers for early diagnosis and summarizes the application of cell‐ or plant‐derived exosomes or engineered exosomes in periodontitis or periodontal regeneration while proposing the perspective of translational application of ...
Yu Wang   +6 more
wiley   +1 more source

Annual Banned‐Substance Review 18th Edition—Analytical Approaches in Human Sports Drug Testing 2024/2025

open access: yesDrug Testing and Analysis, EarlyView.
New insights into drug metabolism, distribution, elimination, and detection assays for drugs and methods of sports doping published between 2024 and 2025 are critically reviewed and evaluated in context with the Prohibited List 2025 as established by the World Anti‐Doping Agency.
Mario Thevis, Tiia Kuuranne, Hans Geyer
wiley   +1 more source

Expression and Retention of Thymidine Phosphorylase in Cultured Reticulocytes as a Novel Treatment for MNGIE

open access: yesMolecular Therapy: Methods & Clinical Development, 2020
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal metabolic disorder caused by thymidine phosphorylase (TP) deficiency. Successful therapeutic interventions for this disease rely on a means for efficient and long-lasting ...
Marjolein Meinders   +5 more
doaj   +1 more source

Evaluating Transcriptomic Biomarkers for rHuEPO Detection: Assessing the Impact of Exercise and Altitude Exposure

open access: yesDrug Testing and Analysis, EarlyView.
A two‐stage transcriptomic filter comparing rHuEPO, exercise and altitude responses reduced 153 candidate genes to 50 that were unaffected by physiological stimuli. These retained transcripts offer focused biomarker leads to strengthen antidoping detection of rHuEPO.
Daria Obratov   +4 more
wiley   +1 more source

The biology of unconventional invasion of Duffy-negative reticulocytes by Plasmodium vivax and its implication in malaria epidemiology and public health

open access: yesMalaria Journal, 2020
Plasmodium vivax has been largely neglected over the past century, despite a widespread recognition of its burden across region where it is endemic. The parasite invades reticulocytes, employing the interaction between Plasmodium vivax Duffy binding ...
Lemu Golassa   +3 more
doaj   +1 more source

Quantitative analysis of mechanisms that govern red blood cell age structure and dynamics during anaemia. [PDF]

open access: yesPLoS Computational Biology, 2009
Mathematical modelling has proven an important tool in elucidating and quantifying mechanisms that govern the age structure and population dynamics of red blood cells (RBCs).
Nicholas J Savill   +2 more
doaj   +1 more source

Statistical Discrimination of Urinary Steroid Biomarkers in the Athlete Biological Passport: A Novel Approach to an Abnormal Steroid Profile Score (ASPS)

open access: yesDrug Testing and Analysis, EarlyView.
The study developed a single Abnormal Steroid Profile Score (ASPS) to improve interpretation of the Athlete Biological Passport steroid module. Using Bayesian modelling and logistic regression, biomarker patterns from laboratory and doping control data successfully discriminated between doped and clean individuals, with improved classification ...
James G. Hopker   +3 more
wiley   +1 more source

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