Results 121 to 130 of about 260,440 (253)

Recombination shapes the diversification of the <i>wtf</i> meiotic drivers. [PDF]

Elife
Wang Y, Xu H, He Q, Wu Z, Gong Z, Han GZ.   +5 more
europepmc   +1 more source

The Trichinella Super‐Pangenome Reveals the Evolution of Encapsulation and Predicted Host–Parasite Protein Interactions

Advanced Science, EarlyView.
ABSTRACT The muscle capsule of Trichinella is a critical structure that impedes immune attacks and drug penetration, yet the molecular mechanisms underlying its formation remain poorly understood. Using a high‐quality super‐pangenome comprising 12 Trichinella species, we compared extensive genomic variations between encapsulating and non‐encapsulating ...
Qingbo Lv, Yi Liu, Ning Xu, Xiao Zhang, Yaming Yang, Chengyao Li, Hanhai Mao, Mingyuan Liu, Xiaolei Liu   +8 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Correcting PVS1 overestimation: clinical insights into rescue transcripts and variant reclassification in 4 prenatal cases. [PDF]

Front Med (Lausanne)
Leng X, Wang J, Yi D, Zhu X, Qin S, Wang X, Tang R, Wang X.   +7 more
europepmc   +1 more source

Disruption of the SNRPF–DDX24–E2F4 Feedback Loop Uncouples Splicing and Transcriptional Regulation to Suppress Ovarian Cancer Progression

Advanced Science, EarlyView.
This study identifies SNRPF as a critical oncogenic driver in ovarian cancer. By regulating a self‐sustaining SNRPF–DDX24–E2F4 feedback loop through intron retention and nonsense‐mediated decay, SNRPF couples RNA splicing with transcriptional regulation to promote tumor progression.
Yingwei Li, Zhongshao Chen, Qianqian Gao, Yuehan Gao, Ning Yang   +4 more
wiley   +1 more source

Unusual Intron Conservation near Tissue-Regulated Exons Found by Splicing Microarrays.

PLoS Computational Biology, 2006
Alternative splicing contributes to both gene regulation and protein diversity. To discover broad relationships between regulation of alternative splicing and sequence conservation, we applied a systems approach, using oligonucleotide microarrays ...
doaj   +1 more source

Generative modeling for RNA splicing prediction and design. [PDF]

Elife
Wu D, Maus N, Jha A, Yang K, Wales-McGrath BD, Jewell S, Tangiyan A, Choi P, Gardner JR, Barash Y.   +9 more
europepmc   +1 more source

NQO1‐Mediated Anoikis Resistance and Immune Evasion Define a High‐Risk Multi‐Omic Subtype for Precision Management of T1 High‐Grade Bladder Cancer

Advanced Science, EarlyView.
Multi‐omic profiling of T1 high‐grade bladder cancer identifies a high‐risk subtype (T1HG1) driven by NQO1, which couples anoikis resistance with immune evasion. NQO1 orchestrates macrophage–T cell crosstalk suppression via CXCL9 modulation. Pharmacological NQO1 inhibition with skullcapflavone II enhances cisplatin efficacy, representing a promising ...
Bin Guo, Chunru Xu, Shufan Fu, Qiang Cheng, Juan Li, Linkuo Shang, Gaojie Li, Yang Yang, Ying Wang, Yanqing Gong, Shengwei Xiong, Jian Fan, Changwei Yuan, Mei Zhang, Yifan Zuo, Elena Papaleo, Yue Shi, Yuan Liang, Xuesong Li, Hongzhao Li, Weimin Ci   +20 more
wiley   +1 more source

Prenatal-Onset Recessive Titinopathies: Clinical Spectrum, Genotype-Phenotype Correlations, and Outcomes. [PDF]

Diagnostics (Basel)
Zheng Y, Shi M, Zhao Y, Chung TCY, Chau MHK, Dong Z, Kwok YKY, Kwan HWA, Chong JSC, Leung TY, Lo TK, Choy KW, Zhang Y, Cao Y.   +13 more
europepmc   +1 more source

Multi‐Omics Profiling Reveals Immunomodulatory and Pro‐Regenerative Effects of a Graphene Oxide–Collagen Scaffold in Massive Rotator Cuff Tears

Advanced Science, EarlyView.
A graphene oxide/collagen scaffold is developed for chronic massive rotator cuff tear repair. The scaffold improves compressive stability, supports reparative mesenchymal differentiation, and modulates the immune microenvironment. In chronic MRCT models, it reduces muscle degeneration, enhances tendon–bone regeneration, and improves functional recovery,
Renwen Wan, Yechuan Deng, Zixin Hu, Yanwei He, Xinting Feng, Jun Ma, Yisheng Chen, Zhijie Zhao, Jie Mei, Zhiheng Lin, Wei Luo, Zhengyuan Fang, Zhufeng Hu, Kunlun Feng, Xinrong Li, Dan Wu, Bowen Han, James Hoi po Hui, Xuanyong Liu, Chen Chen, Gang Chen, Shiyi Chen, Nirong Bao, Jiajun Qiu, Zhiwen Luo   +24 more
wiley   +1 more source