Results 101 to 110 of about 6,398,385 (224)

Difficult‐to‐Treat Epilepsy With Developmental Implications

open access: yes
Annals of the Child Neurology Society, EarlyView.
Samuel Kamoroff   +2 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Pan-cancer analysis of ADAR1 with its prognostic relevance in low-grade glioma

open access: yesImmunobiology
ADAR1, known as the primary enzyme for adenosine-to-inosine RNA editing, has recently been implicated in cancer development through both RNA editing-dependent and −independent pathways.
Qin Yang, Xin Li
doaj   +1 more source

Transcription‐Replication Conflicts: Unlocking New Frontiers in Cancer

open access: yesBioEssays, Volume 47, Issue 8, August 2025.
Transcription‐replication conflicts (TRCs) constitute a major source of genome instability. Such conflicts are regulated by chromatin, its dysfunction causing replication stress, DNA breaks, and mutations frequently found in cancer. We review the molecular basis of TRCs and chromatin regulation and discuss the clinical potential of targeting TRCs as ...
Aleix Bayona‐Feliu, Andrés Aguilera
wiley   +1 more source

Deep Brain Stimulation in a Child with Aicardi‐Goutières Syndrome‐7 (AGS7): A Case Report and Literature Review

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan   +10 more
wiley   +1 more source

Exploring the untapped potential of single‐cell and spatial omics in plant biology

open access: yesNew Phytologist, Volume 247, Issue 3, Page 1098-1116, August 2025.
Summary Advances in single‐cell and spatial omics technologies have revolutionised biology by revealing the diverse molecular states of individual cells and their spatial organization within tissues. The field of plant biology has widely adopted single‐cell transcriptome and chromatin accessibility profiling and spatial transcriptomics, which extend ...
Tatsuya Nobori
wiley   +1 more source

Enhancing Specificity, Precision, Accessibility, Flexibility, and Safety to Overcome Traditional CRISPR/Cas Editing Challenges and Shape Future Innovations

open access: yesAdvanced Science, Volume 12, Issue 28, July 24, 2025.
CRISPR/Cas9, while transformative, faces challenges in specificity, precision, delivery, accessibility, flexibility, and safety. This review addresses these limitations by highlighting strategies to reduce off‐target effects, exploring HDR‐based and alternative editing approaches, and evaluating advanced delivery mechanisms.
Muna Alariqi   +8 more
wiley   +1 more source

Glutamine Metabolism: Molecular Regulation, Biological Functions, and Diseases

open access: yesMedComm, Volume 6, Issue 7, July 2025.
Tumor cells adapt to nutrient‐poor environments by altering metabolism to acquire essential nutrients. They convert glutamine into glutamate and α‐ketoglutarate, supporting mTOR activation and sugar biosynthesis. Disruption of mTORC1 signaling is linked to disease, while glutamine and leucine activation promotes cell growth and inhibits autophagy ...
Mudasir A. Kumar   +10 more
wiley   +1 more source

Natural Antioxidants as Regulators of Circular RNA Expression and Function

open access: yesWIREs RNA, Volume 16, Issue 4, July/August 2025.
Natural antioxidants found in food can modulate circular RNA activity, offering a novel strategy to counteract oxidative stress and its related diseases, including cardiovascular disorders, diabetes, and cancer. This emerging connection between diet and gene regulation holds promising potential for both therapy and prevention.
Aseela Fathima   +6 more
wiley   +1 more source

MS2-TRIBE Evaluates Both Protein-RNA Interactions and Nuclear Organization of Transcription by RNA Editing

open access: yesiScience, 2020
Summary: Both UV-cross-linking and immunoprecipitation (CLIP) and RNA editing (TRIBE) can identify the targets of RNA-binding proteins. To evaluate false-positives of CLIP and TRIBE, endogenous β-actin mRNA was tagged with MS2 stem loops, making it the ...
Jeetayu Biswas   +4 more
doaj   +1 more source

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