Results 31 to 40 of about 1,898 (155)

The spliceosome, a potential Achilles heel of MYC-driven tumors [PDF]

, 2015
Alterations in RNA splicing are frequent in human tumors. Two recent studies of lymphoma and breast cancer have identified components of the spliceosome - the core splicing machinery - that are essential for malignant transformation driven by the ...
Anczukow, O., Krainer, A. R.
core   +1 more source

Reovirus μ2 protein modulates host cell alternative splicing by reducing protein levels of U5 snRNP core components [PDF]

, 2022
: Mammalian orthoreovirus (MRV) is a doublestranded RNA virus from the Reoviridae family presenting a promising activity as an oncolytic virus. Recent studies have underlined MRV’s ability to alter cellular alternative splicing (AS) during infection ...
Bisaillon, Martin, Boudreault, Simon, Durand, Mathieu, Lemay, Guy, Martineau, Carole-Anne, Perreault, Jean-Pierre   +5 more
core   +2 more sources

Jerantinine A induces tumor-specific cell death through modulation of splicing factor 3b subunit 1 (SF3B1) [PDF]

, 2017
Precursor mRNA (pre-mRNA) splicing is catalyzed by a large ribonucleoprotein complex known as the spliceosome. Numerous studies have indicated that aberrant splicing patterns or mutations in spliceosome components, including the splicing factor 3b ...
Bradshaw, Tracey D., Chung, Felicia Fei-Lei, Hii, Ling-Wei, Kam, Toh-Seok, Leong, Chee-Onn, Lim, Kuan-Hon, Mai, Chun Wai, Raja, Vijay Joseph, See, Sze-Jia, Tan, Boon-Shing, Tan, Perry Faith Tze Ming, Tan, Si Hoey, Tan, Yuen-Fen, Wong, Li-Zhe, Yam, Wai Keat   +14 more
core   +1 more source

Proteomic Analysis Reveals CACN-1 Is a Component of the Spliceosome in Caenorhabditis elegans [PDF]

, 2014
Cell migration is essential for embryonic development and tissue formation in all animals. cacn-1 is a conserved gene of unknown molecular function identified in a genome-wide screen for genes that regulate distal tip cell migration in the nematode worm ...
Adelmant, Guillaume, Cecchetelli, Alyssa D., Cram, Erin J., Doherty, Michael F., Marto, Jarrod A.   +4 more
core   +2 more sources

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors [PDF]

Nucleic Acids Research, 2016
Haploinsufficiency of EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is linked to human mandibulofacial dysostosis, Guion-Almeida type (MFDGA), but the underlying cellular and molecular mechanisms remain to be addressed. We report here the isolation, cloning and functional analysis of the mutated eftud2 (snu114) in a novel neuronal ...
Lei, Lei, Yan, Shou-Yu, Yang, Ran, Chen, Jia-Yu, Li, Yumei, Bu, Ye, Chang, Nannan, Zhou, Qinchao, Zhu, Xiaojun, Li, Chuan-Yun, Xiong, Jing-Wei   +10 more
openaire   +2 more sources

arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs [PDF]

, 2017
Purpose: Our goal was to design a customized microarray, arrEYE, for high-resolution copy number variant (CNV) analysis of known and candidate genes for inherited retinal dystrophy (iRD) and retina expressed noncoding RNAs (ncRNAs).
Bauwens, Miriam, Cannoodt, Robrecht, Coppieters, Frauke, De Baere, Elfride, De Jaegere, Sarah, Leroy, Bart, Menten, Björn, Sante, Tom, Steyaert, Wouter, Van Cauwenbergh, Caroline, Van Laethem, Thalia, Van Schil, Kristof   +11 more
core   +2 more sources

RNA-Seq analysis of splicing in Plasmodium falciparum uncovers new splice junctions, alternative splicing and splicing of antisense transcripts. [PDF]

, 2011
Over 50% of genes in Plasmodium falciparum, the deadliest human malaria parasite, contain predicted introns, yet experimental characterization of splicing in this organism remains incomplete.
DeRisi, Joseph L, Dimon, Michelle T, Sorber, Katherine   +2 more
core   +3 more sources

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

Molecular Case Studies, 2022
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM.
Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro   +7 more
openaire   +2 more sources

EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type [PDF]

Human Mutation, 2020
Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants.
Huw B. Thomas, Katherine A. Wood, Weronika A. Buczek, Christopher T. Gordon, Véronique Pingault, Tania Attié‐Bitach, Kathryn E. Hentges, Vinod C. Varghese, Jeanne Amiel, William G. Newman, Raymond T. O'Keefe   +10 more
openaire   +2 more sources

Expanding the etiology of oculo-auriculo-vertebral spectrum: a novel interstitial microdeletion at 1p36 [PDF]

, 2022
The etiology of oculo-auriculo-vertebral spectrum (OAVS) is not well established. About half of patients show a positive family history. The etiology of familiar cases is unclear but appears genetically heterogeneous.
García-Castro, Mónica, Martínez-Merino, Teresa, Puente, Nuria, Riancho Moral, José Antonio   +3 more
core   +1 more source