Results 81 to 90 of about 10,182 (283)

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

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency [PDF]

, 2014
The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the ...
Ali Oghabian, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Jesús Argente, Julie A Chowen, Luis A Pérez‐Jurado, Mikko J Frilander, Pfäffle R, Pérez Jurado LA, Raquel Flores   +11 more
core   +2 more sources

The RNA Binding Protein Bcas2 is Required for Antibody Class Switch in Activated‐B Cells

Exploration, EarlyView.
Bcas2 recruits DHX15 and SRSF7 to form a protein complex for the splicing of CSR‐related mRNA at the 5' ss and 3' ss, generating two mature mRNA isoforms, which are ultimately translated into CSR‐related proteins. These CSR‐related proteins bind to DNA associated with antibodies, affecting the DSB repair of the relevant DNA after AID induction, thereby
Yu Chen, Siyuan Sun, Chenxu Lu, Yixuan Li, Bing Fang, Xiangfeng Tang, Xuepeng Li, Weiru Yu, Yumei Lei, Longjie Sun, Ming Zhang, Jiazeng Sun, Ping Liu, Yongting Luo, Xingwang Zhao, Jing Zhan, Libing Liu, Rong Liu, Jiaqiang Huang, Ziwei Yi, Yifei Yu, Weihan Xiao, Zheng Ding, Lei Li, Dan Su, Fazheng Ren, Changchang Cao, Ran Wang, Wenbiao Shi, Juan Chen   +29 more
wiley   +1 more source

A Quantitative Approach to Investigating the Hypothesis of Prokaryotic Intron Loss [PDF]

, 2011
Using a novel method, we show that ordered triplets of motifs usually associated with spliceosomal intron recognition are underrepresented in the protein coding sequence of complete Thermotogae, archaeal and bacterial genomes.
Robert M. Sinclair
core   +1 more source

Multi‐Cohort Analysis Reveals Genetic Predispositions to Clonal Hematopoiesis as Mutation‐Specific Risk Factors for Stroke

Advanced Genetics, Volume 6, Issue 1, March 2025.
This study comprehensively evaluated the differential effect of clonal hematopoiesis (CH) mutations on the risk of various stroke subtypes and functional recovery. It shows that TET2 is associated with small vessel stroke possibly via a pro‐inflammatory pathway. Abstract Recent observational studies have found an association between Clonal Hematopoesis
Shuyang Lin, Yang E. Li, Yan Wang
wiley   +1 more source

Nuclear Pre-snRNA Export Is an Essential Quality Assurance Mechanism for Functional Spliceosomes

Cell Reports, 2019
Summary: Removal of introns from pre-mRNAs is an essential step in eukaryotic gene expression, mediated by spliceosomes that contain snRNAs as key components. Although snRNAs are transcribed in the nucleus and function in the same compartment, all except
Daniel Becker, Anna Greta Hirsch, Lysann Bender, Thomas Lingner, Gabriela Salinas, Heike Krebber   +5 more
doaj  

Immunoprecipitation of spliceosomal RNAs by antisera to galectin-1 and galectin-3 [PDF]

, 2006
We have shown that galectin-1 and galectin-3 are functionally redundant splicing factors. Now we provide evidence that both galectins are directly associated with spliceosomes by analyzing RNAs and proteins of complexes immunoprecipitated by galectin ...
Agrwal, Barondes, Brow, Choi, Choi, Chua, Dagher, Das, Hartmuth, Hastings, Hirabayashi, John L. Wang, Jung W. Park, Konarska, Makarov, Neubauer, Park, Pellizzoni, Rappsilber, Ronald J. Patterson, Saitoh, Vyakarnam, Vyakarnam, Weizhong Wang, Zhou, Zillman   +25 more
core   +3 more sources

Origin and evolution of spliceosomal introns [PDF]

Biology Direct, 2012
AbstractEvolution of exon-intron structure of eukaryotic genes has been a matter of long-standing, intensive debate. The introns-early concept, later rebranded ‘introns first’ held that protein-coding genes were interrupted by numerous introns even at the earliest stages of life's evolution and that introns played a major role in the origin of proteins
Igor B. Rogozin, Miklós Csürös, Liran Carmel, Eugene V. Koonin   +3 more
openaire   +3 more sources

Evidence of Involvement of the Calcitonin Gene‐Related Peptide in Restless Legs Syndrome

Movement Disorders, EarlyView.
Abstract Background Restless legs syndrome (RLS) is a common sensory‐motor disorder characterized by an urge to move the legs, often with unpleasant sensations, particularly during rest. Current treatments include iron supplementation, dopamine agonists, and opioids, but new therapeutic approaches are needed.
Maria P. Mogavero, Mojibola Fowowe, Akeem Sanni, Mona Goli, Giuseppe Lanza, Francesca L'Episcopo, Luigi Ferini‐Strambi, Yehia Mechref, Raffaele Ferri   +8 more
wiley   +1 more source

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