Results 311 to 320 of about 846,528 (387)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Insights into organelle forming RNAs: Diversity, functions and future perspectives

open access: yesAnimal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

open access: yesAnnals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse   +16 more
wiley   +1 more source

The Redox Properties of Polyphenols and Their Role in ROS Generation for Biomedical Applications

open access: yesAngewandte Chemie, EarlyView.
The dual redox nature of polyphenols enables antioxidant activity and controlled reactive oxygen species (ROS) generation. This review details the biomedical applications of polyphenols in materials such as nanoparticles, coatings, and hydrogels for antimicrobial, tissue regeneration, and cancer therapies.
Jose Bolaños‐Cardet   +7 more
wiley   +2 more sources

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