Results 271 to 280 of about 38,830 (350)

Expanding the Phenotypic Spectrum of HNRNPU‐Related Disorder, Documenting the First Familial Presentation and Comprehensive Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT HNRNPU‐related neurodevelopmental disorder (HNRNPU‐NDD) is caused by pathogenic and likely pathogenic variants in HNRNPU. With increasing accessibility to advanced genetic investigations, children presenting with developmental delay and intellectual disability will often undergo genomic testing; hence, the number of patients found to be ...
A. K. O. Hodgson, L. Baxandall, D. Aiyedun, A. Li, P. Y. B. Au, J. M. Bain, M. A. Gillentine, H. Goel, A. D. Kline, C. L. Ricupero, R. Sánchez‐Carpintero, E. P. Seward, R. Sidlow, S. A. Wilson, M. Balasubramanian   +14 more
wiley   +1 more source

RNA modifications and Prp24 coordinate Lsm2-8 binding dynamics during S. cerevisiae U6 snRNP assembly. [PDF]

J Biol Chem
Liu Y, Nomura Y, Butcher SE, Hoskins AA.
europepmc   +1 more source

Recent Findings in N6‐Methyladenosine Modification and Significance in Pancreatic Cancer

Cancer Medicine, Volume 14, Issue 11, June 2025.
ABSTRACT Background RNA modifications are widely detected in cells and are involved in RNA structural stabilization and regulation of gene expression. In cancer cells, RNA modifications are altered, resulting in abnormal expression of numerous genes and promoting cancer growth. N1‐methyladenosine (m1A), N6‐methyladenosine (m6A), N3‐methylcytosine (m3C),
Tomoaki Hara, Sikun Meng, Yasuko Arao, Yoshiko Saito, Kana Inoue, Sarah Rennie, Ken Ofusa, Toru Kitagawa, Hideshi Ishii   +8 more
wiley   +1 more source

Anti-Smith Antibodies as a Predictive Factor for Developing Lupus Nephritis in Systemic Lupus Erythematosus Patients: A Systematic Review. [PDF]

Cureus
Saleem A, Zeeshan B, Dissanayake G, Zergaw M, Elgendy M, Billey A.   +5 more
europepmc   +1 more source

CEP162: A critical regulator of ciliary transition zone assembly and its implications in ciliopathies

Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.
Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin, Jialian Bai, Xiaochong He, Wenjuan He, Hongming Miao, Mengjie Zhang, Zhongying Yu, Bing Ni   +7 more
wiley   +1 more source

Semantic segmentation-based detection algorithm for challenging cryo-electron microscopy RNP samples. [PDF]

Front Mol Biosci
Vargas J, Modrego A, Canabal H, Martin-Benito J.   +3 more
europepmc   +1 more source

LncRNA MIR503HG regulates NETs‐mediated NLRP3 inflammasome activation and NSCLC metastasis by enhancing the ubiquitination of C/EBPβ

Clinical and Translational Medicine, Volume 15, Issue 6, June 2025.
NETs suppress the expression of MIR503HG by inducing promoter DNA methylation. C/EBPβ binds to the NLRP3 promoter to promote NLRP3 expression. MIR503HG inhibits the expression of C/EBPβ protein by promoting the interaction between C/EBPβ and the E3 ubiquitin ligase RNF43, thereby repressing NLRP3 expression. Abstract Background Neutrophil extracellular
Xin Ye, Chen Fang, Weiwei Hong, Xiaoying Qian, Biao Yu, Bingbiao Zhou, Xinyuan Yao, Dengying Chen, Chengsi Shu, Chuanhong Luo, Yong Wang, Yong Li   +11 more
wiley   +1 more source

Non-Invasive Delivery of CRISPR/Cas9 Ribonucleoproteins (Cas9 RNPs) into Cells via Nanoparticles for Membrane Transport. [PDF]

Pharmaceutics
Tashima T.
europepmc   +1 more source

MLKL‒OPTN axis regulates herpesvirus‐induced neurological sequelae

Clinical and Translational Medicine, Volume 15, Issue 6, June 2025.
MLKL plays a significant role in regulating endosomal transport of HSV‐1 to nucleus during early stages of infection. Formation of p‐MLKL bodies during HSV‐1 infection leads to death of oligodendrocyte and subsequent demyelination. OPTN can negatively modulate MLKL levels to restrict infection and consequential oligodendrocyte death during HSV‐1 ...
Ilina Bhattacharya, Rashmi Kadam, Tejabhiram Yadavalli, Chandrashekhar D. Patil, Hemant Borase, Ipsita Volety, Sergey Kalinin, Douglas L. Feinstein, Henry C. Tseng, Deepak Shukla   +9 more
wiley   +1 more source