Results 61 to 70 of about 7,418 (222)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Case‐Based Immunology: B Cells and Systemic Sclerosis Interstitial Lung Disease

Arthritis &Rheumatology, EarlyView.
Interstitial lung disease (ILD) is an important complication of systemic sclerosis (SSc), with high mortality and morbidity. Recent clinical studies in SSc‐ILD have led to US Food and Drug Administration–approved therapies in SSc‐ILD. Importantly, evidence from these studies has been extrapolated to guide management of ILDs of other systemic autoimmune
Nina Goldman, Voon Ong, Christopher P. Denton   +2 more
wiley   +1 more source

Cloning and molecular characterization of Trypanosoma cruzi U2, U4, U5, and U6 small nuclear RNAs

Memorias do Instituto Oswaldo Cruz, 2007
Small nuclear RNAs (snRNAs) are important factors in the functioning of eukaryotic cells that form several small complexes with proteins; these ribonucleoprotein particles (U snRNPs) have an essential role in the pre-mRNA processing, particularly in ...
DL Ambrósio, MTA Silva, RMB Cicarelli
doaj   +1 more source

Structures of the human pre-catalytic spliceosome and its precursor spliceosome [PDF]

Cell Research, 2018
The pre-catalytic spliceosome (B complex) is preceded by its precursor spliceosome (pre-B complex) and followed by the activated spliceosome (Bact complex). The pre-B-to-B and B-to-Bact transitions are driven by the ATPase/helicases Prp28 and Brr2, respectively. In this study, we report the cryo-electron microscopy structures of the human pre-B complex
Xiechao Zhan, Chuangye Yan, Xiaofeng Zhang, Jianlin Lei, Yigong Shi   +4 more
openaire   +2 more sources

Dysregulation of U12‐Type Splicing in Lupus Neutrophils

Arthritis &Rheumatology, Accepted Article.
Abstract. Objective Neutrophil dysfunction is a hallmark of systemic lupus erythematosus (SLE), but its molecular basis remains unclear. This study explores transcriptional and post‐transcriptional changes in low‐density granulocytes (LDGs), a proinflammatory neutrophil subset expanded in SLE, focusing on NADPH oxidase (Nox) function and minor intron ...
Luz P. Blanco, Binod Regmi, Carmelo Carmona‐Rivera, Yudong Liu, Xiantao Wang, Philip M. Carlucci, Monica M. Jackson, Zerai Manna, Sarfaraz Hasni, Markus Hafner, Hong‐Wei Sun, Mariana J. Kaplan   +11 more
wiley   +1 more source

Expression of PDLIM5 Spliceosomes and Regulatory Functions on Myogenesis in Pigs

Cells
Meat yield, determined by muscle growth and development, is an important economic trait for the swine industry and a focus of research in animal genetics and breeding. PDZ and LIM domain 5 (PDLIM5) are cytoskeleton-related proteins that play key roles in
Yu Fu, Shixin Li, Jingru Nie, Dawei Yan, Bo Zhang, Xin Hao, Hao Zhang   +6 more
doaj   +1 more source

Dissecting human trophoblast cell transcriptional heterogeneity in preeclampsia using single‐cell RNA sequencing

Molecular Genetics & Genomic Medicine, 2021
Objective PE is a pregnancy‐specific syndrome that affects 3%–5% of pregnant women. It often presents as new‐onset hypertension and proteinuria during the third trimester.
Tao Zhang, Qianqian Bian, Yanchun Chen, Xiaolin Wang, Shaowei Yu, Shunhua Liu, Ping Ji, Ling Li, Mandakini Shrestha, Shujun Dong, Rong Guo, Hong Zhang   +11 more
doaj   +1 more source

A molecular brake that modulates spliceosome pausing at detained introns contributes to neurodegeneration [PDF]

, 2022
Dawei Meng, Qian Zheng, Xue Zhang, Li Luo, Yichang Jia   +4 more
openalex   +1 more source

Differential Proteomic Analysis to Reveal the Mechanism of Heat Damage in Soybean Using a Data‐Independent Acquisition (DIA) Strategy

Food Safety and Health, EarlyView.
Heat‐stressed soybeans adapt to elevated temperatures through coordinate regulation of destructive and protective protein expression ‐ suppressing detrimental proteins while enhancing beneficial ones. ABSTRACT Soybean represents the largest imported agricultural product in China. Imported soybeans are typically transported via maritime shipping. During
Pengdi Ding, Qinfei Xie, Jiajing Duan, Yinghao Feng, Fengzhong Wang, Yufeng Sun   +5 more
wiley   +1 more source

The biological function and clinical significance of SF3B1 mutations in cancer

Biomarker Research, 2020
Spliceosome mutations have become the most interesting mutations detected in human cancer in recent years. The spliceosome, a large, dynamic multimegadalton small nuclear ribonucleoprotein composed of small nuclear RNAs associated with proteins, is ...
Zhixia Zhou, Qi Gong, Yin Wang, Mengkun Li, Lu Wang, Hongfei Ding, Peifeng Li   +6 more
doaj   +1 more source