Results 111 to 120 of about 17,120 (319)

Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA

eLife, 2013
Eukaryotes have two types of spliceosomes, comprised of either major (U1, U2, U4, U5, U6) or minor (U11, U12, U4atac, U6atac; <1%) snRNPs. The high conservation of minor introns, typically one amidst many major introns in several hundred genes ...
Ihab Younis, Kimberly Dittmar, Wei Wang, Shawn W Foley, Michael G Berg, Karen Y Hu, Zhi Wei, Lili Wan, Gideon Dreyfuss   +8 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

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

An Atomic Structure of the Human Spliceosome [PDF]

Cell, 2017
Mechanistic understanding of pre-mRNA splicing requires detailed structural information on various states of the spliceosome. Here we report the cryo electron microscopy (cryo-EM) structure of the human spliceosome just before exon ligation (the C∗ complex) at an average resolution of 3.76 Å.
Lorenzo I. Finci, Jing Hang, Chuangye Yan, Yigong Shi, Jianlin Lei, Xiaofeng Zhang   +5 more
openaire   +3 more sources

Evidence for a nuclear compartment of transcription and splicing located at chromosome domain boundaries [PDF]

, 1993
The nuclear topography of splicing snRNPs, mRNA transcripts and chromosome domains in various mammalian cell types are described. The visualization of splicing snRNPs, defined by the Sm antigen, and coiled bodies, revealed distinctly different ...
A Monneron, A Schneider-G�dicke, AK Raap, B Roggenbuck, C Benyajati, C Collins, C Cremer, C Zorn, CA Ascoli, D Pinkel, D Pinkel, DE Comings, DJ Arndt-Jovin, DL Spector, DL Spector, DL Spector, DL Spector, DL Spector, DM Shotton, EA Lerner, G Blobel, GJ Brakenhoff, HTM Voort Van der, I Raska, J Bradl, JB Lawrence, JD Northway, JG Gall, JR Paulson, KC Carter, L Manuelidis, L Manuelidis, L Manuelidis, L Manuelidis, LEC Andrade, M Bachmann, M Bouteille, M Carmo-Fonseca, M Carmo-Fonseca, M Carmo-Fonseca, M Carmo-Fonseca, M Hochstrasser, M Mattioli, M Schardin, N Hutchison, P Lichter, P Lichter, P Lichter, P Lichter, R Berezney, R Reuter, R Verheijen, S Fakan, S Fakan, S Huang, SA Berman, T Cremer, T Cremer, TM Jovin, U Bond, U Nyman, Y Hiraoka, y Ramon, Y Xing, Y Xing   +64 more
core   +1 more source

B cells and systemic sclerosis interstitial lung disease

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

Zrsr2 and functional U12-dependent spliceosome are necessary for follicular development

iScience, 2022
Summary: ZRSR2 is a splicing factor involved in recognition of 3′-intron splice sites that is frequently mutated in myeloid malignancies and several tumors; however, the role of mutations of Zrsr2 in other tissues has not been analyzed.
Isabel Gómez-Redondo, Eva Pericuesta, Paula Navarrete-Lopez, Priscila Ramos-Ibeas, Benjamín Planells, Noelia Fonseca-Balvís, Aida Vaquero-Rey, Raúl Fernández-González, Ricardo Laguna-Barraza, Keiko Horiuchi, Alfonso Gutiérrez-Adán   +10 more
doaj  

Comparative proteomics analysis of dietary restriction in Drosophila.

PLoS ONE, 2020
To explore the underlying mechanism of dietary restriction (DR) induced lifespan extension in fruit flies at protein level, we performed proteome sequencing in Drosophila at day 7 (young) and day 42 (old) under DR and ad libitum (AL) conditions.
Yue Gao, Chenxing Zhu, Keqin Li, Xingyi Cheng, Yanjiao Du, Deying Yang, Xiaolan Fan, Uma Gaur, Mingyao Yang   +8 more
doaj   +1 more source

Identification of both shared and distinct proteins in the major and minor spliceosomes.

Science, 1999
In metazoans, two distinct spliceosomes catalyzing pre-messenger RNA splicing have been identified. Here, the human U11/U12 small nuclear ribonucleoprotein (snRNP), a subunit of the minor (U12-dependent) spliceosome, was isolated. Twenty U11/U12 proteins
C. Will, Claudia Schneider, Robin Reed, Reinhard Lührmann   +3 more
semanticscholar   +1 more source

Exploring the Potential and Advancements of Circular RNA Therapeutics

Exploration, EarlyView.
Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang, Lianqing Wang, Chunbo Dong, Jialong Liu, Guoxin Cui, Shan Gao, Zhida Liu   +6 more
wiley   +1 more source