Results 101 to 110 of about 51,251 (260)

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

The nuclear GYF protein CD2BP2/U5–52K is required for T cell homeostasis

Frontiers in Immunology
The question whether interference with the ubiquitous splicing machinery can lead to cell-type specific perturbation of cellular function is addressed here by T cell specific ablation of the general U5 snRNP assembly factor CD2BP2/U5–52K.
Miriam Bertazzon, Almudena Hurtado-Pico, Carlos Plaza-Sirvent, Marc Schuster, Marco Preußner, Benno Kuropka, Fan Liu, Andor Zenon Amandus Kirsten, Xiao Jakob Schmitt, Benjamin König, Miguel Álvaro-Benito, Miguel Álvaro-Benito, Esam T. Abualrous, Esam T. Abualrous, Esam T. Abualrous, Gesa I. Albert, Stefanie Kliche, Florian Heyd, Ingo Schmitz, Christian Freund   +19 more
doaj   +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

The metabolic reprogramming and vulnerability of SF3B1 mutations

Molecular & Cellular Oncology, 2020
Mutations in the splicing factor 3b subunit 1 (SF3B1) gene create a neomorphic protein that disrupts RNA splicing, but the downstream consequences of this missplicing are unclear.
W. Brian Dalton
doaj   +1 more source

Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions

Cells, 2020
Splicing is a tightly orchestrated process by which the brain produces protein diversity over time and space. While this process specializes and diversifies neurons, its deregulation may be responsible for their selective degeneration.
Valentina La Cognata, Giulia Gentile, Eleonora Aronica, Sebastiano Cavallaro   +3 more
doaj   +1 more source

Transcription, signaling receptor activity, oxidative phosphorylation, and fatty acid metabolism mediate the presence of closely related species in distinct intertidal and cold-seep habitats [PDF]

, 2015
Bathyal cold seeps are isolated extreme deep-sea environments characterized by low species diversity while biomass can be high. The Hakon Mosby mud volcano (Barents Sea, 1,280 m) is a rather stable chemosynthetic driven habitat characterized by prominent
Derycke, Sofie, Van Belleghem, Steven, Van Campenhout, Jelle, Vanreusel, Ann   +3 more
core   +2 more sources

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

The spliceosome as a new therapeutic vulnerability in aggressive prostate cancer

Molecular & Cellular Oncology, 2020
Alternative splicing (AS) analysis across the entire spectrum of human prostate cancer evolution reveals the unexpected findings that intron retention is a hallmark of stemness and tumor aggressiveness, and androgen receptor controls a splicing program ...
Cheng Zou, Dingxiao Zhang
doaj   +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