Results 41 to 50 of about 1,172 (162)

The Role of the U5 snRNP in Genetic Disorders and Cancer

Frontiers in Genetics, 2021
Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors.
Katherine A. Wood, Katherine A. Wood, Megan A. Eadsforth, William G. Newman, William G. Newman, Raymond T. O’Keefe   +5 more
doaj   +1 more source

Spliceosomal GTPase EFTUD2 mediates DDX41 intron retention to promote the malignant progression of ovarian cancer. [PDF]

Br J Cancer
Dysregulation of alternative splicing (AS) has been identified as a promising target for cancer therapy. Nevertheless, the precise molecular mechanisms by which AS influences ovarian cancer (OC) progression have not yet been fully elucidated.A comprehensive bioinformatics analysis was conducted to identify and screen core splicing factors in OC.
Liu Y, Chen Z, Duan Y, Shao Z, Chen Y, Yang N, Xiao H, Li Y, Song K.   +8 more
europepmc   +4 more sources

Genotypes of embryos collected from matings of Eftud2^+/- with Eftud2^+/- mice on the C57BL/6 genetic background. [PDF]

, 2019
Genotypes of embryos collected from matings of Eftud2+/- with Eftud2+/- mice on the C57BL/6 genetic background.
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

Blood Biomarkers Associated with Cognitive Decline in Early Stage and Drug-Naive Parkinson's Disease Patients. [PDF]

PLoS ONE, 2015
Early diagnosis of Parkinson's disease (PD) continues to be a major challenge in the field. The lack of a robust biomarker to detect early stage PD patients has considerably slowed the progress toward the development of potential therapeutic agents.
Jose A Santiago, Judith A Potashkin
doaj   +1 more source

Reduced Eftud2 mRNA and protein levels in heterozygous mice. [PDF]

, 2019
Eftud2 mRNA levels was evaluated using RT-qPCR in E9.5 embryos on the mixed genetic background with primers flanking A) exon 2 or B) exons 15–16. WT = 3, HET = 3 (see Mat&Methods section for samples description).
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes.

PLoS Computational Biology, 2021
RNA-binding proteins (RBPs) can regulate more than a single aspect of RNA metabolism. We searched for such previously undiscovered multifunctionality within a set of 143 RBPs, by defining the predictive value of RBP abundance for the transcription and ...
Valentin Schneider-Lunitz, Jorge Ruiz-Orera, Norbert Hubner, Sebastiaan van Heesch   +3 more
doaj   +1 more source

Features of blastocysts cultured in vitro collected from matings of Eftud2^+/- with Eftud2^+/- mice in the CD1 genetic background. [PDF]

, 2019
Features of blastocysts cultured in vitro collected from matings of Eftud2+/- with Eftud2+/- mice in the CD1 genetic background.
Anissa Djedid (6919970), Shruti Kumar (6919979), Kayla Clokie (6919976), Marie-Claude Beauchamp (3476816), Jacek Majewski (65417), Loydie Anne Jerome-Majewska (6919982), Kevin Daupin (6919973)   +6 more
core   +1 more source

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

BMC Medical Genetics, 2020
Background Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or ...
Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii   +10 more
doaj   +1 more source

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

A functional loop between YTH domain family protein YTHDF3 mediated m6A modification and phosphofructokinase PFKL in glycolysis of hepatocellular carcinoma

Journal of Experimental & Clinical Cancer Research, 2022
Background & aims N6-methyladenosine (m6A) modification plays a critical role in progression of hepatocellular carcinoma (HCC), and aerobic glycolysis is a hallmark of cancer including HCC.
Rong Zhou, Wen Ni, Chao Qin, Yunxia Zhou, Yuqing Li, Jianping Huo, Lijuan Bian, Aijun Zhou, Jianming Li   +8 more
doaj   +1 more source