Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]
Li N, Lu C, Gu HF, An X.
europepmc +1 more source
A Dual‐Channel Synergistic Ultrasensitive Biosensor for Tumor Liquid Biopsy
ABSTRACT Liquid biopsy technology, which detects circulating tumor DNA (ctDNA) in cerebrospinal fluid, plays a crucial role in the early diagnosis and precision treatment of gliomas. However, the intrinsically low abundance and rapid clearance of ctDNA pose substantial challenges for conventional analytical techniques, such as droplet digital PCR and ...
Yu Sun +12 more
wiley +1 more source
A novel <i>UBASH3B::PVT1</i> fusion in B-cell acute lymphoblastic leukemia with <i>PAX5-PTD</i>: a case report and literature review. [PDF]
Zhuang X +17 more
europepmc +1 more source
Single‐cell and spatial profiling of 110 human thoracic aortic samples reveals a stromal–immune circuit driving aortic dissection. An elastin‐rich fibroblast subset is depleted with age and markedly reduced in disease, weakening aortic wall integrity.
Jing Tao +25 more
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U2AF1 modulates alternative exon selection and guards zygotic splicing activation in mouse preimplantation embryogenesis. [PDF]
Jiang ZY +6 more
europepmc +1 more source
Floral meristem (FM) activity is crucial for the initiation of floral organs. In this study, SE represses IPT7 expression and cytokinin signaling via both the miR171c‐5p–KNAT2 and miR164c–CUC1/2–KNAT2 regulatory modules, thereby repressing FM activity. In contrast, STM induces both KNAT2 and IPT7 expression.
Wen Yang +11 more
wiley +1 more source
Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study. [PDF]
Sugiyama R +6 more
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Transposase‐Assisted Donor Tethering Boosts Large‐Fragment HDR in Plants
A transposase‐assisted donor tethering strategy is developed to enhance homology‐directed repair in plants. By recruiting donor DNA to double‐strand breaks and synergizing with repair pathway reprogramming and transcription‐coupled donor design, this system markedly improves large‐fragment targeted insertion efficiency, providing a robust platform for ...
Sha Wei +8 more
wiley +1 more source

