BackgroundAn increase in the demand for a functional cure has accelerated research on new methods of therapy for chronic hepatitis B, which is mainly focused on restoring antiviral immunity for controlling viral infections.
Jinyuan Cai +11 more
doaj +1 more source
Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]
Agata Kucińska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 Łukasz Przesór,1 Dobromiła Barańska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Motherâs Memorial Hospital - Research Institute, Lodz, Poland; 2Department of Medical Genetics, Institute of ...
Kucińska A +8 more
europepmc +4 more sources
“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype [PDF]
AbstractHeterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2.
Daniela V, Luquetti +7 more
openaire +2 more sources
Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]
The formation of mature mRNA is inseparable from the processing of RNA precursors and splicing by the spliceosome. The spliceosome is a multi‑protein complex composed of five small nuclear ribonucleoproteins. Elongation factor Tu GTP binding domain containing 2 (EFTUD2) is a component of spliceosome complex that is involved in the reorganization of the
Yin A, Zhu Q, Chen Y, Wang J.
europepmc +3 more sources
Abstract Background Chemoresistance remains the primary cause of mortality in colorectal cancer (CRC). However, our understanding of the molecular basis underlying CRC chemoresistance is still limited. Elongation factor Tu GTP binding domain containing 2 (EFTUD2) has been implicated as a potential oncogenic factor in various cancer types, yet ...
Xiaojian Zhu +10 more
openaire +1 more source
The Role of the U5 snRNP in Genetic Disorders and Cancer
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 +5 more
doaj +1 more source
Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity [PDF]
Abstract The extent of the innate immune response is regulated by many positively and negatively acting signaling proteins. This allows for proper activation of innate immunity to fight infection while ensuring that the response is limited to prevent unwanted complications.
Lesly, De Arras +6 more
openaire +2 more sources
Prognostic biomarkers based on GUF1, EFTUD2 and GSPT1 targets affecting migration of gastric cancer cells. [PDF]
Eukaryotic elongation factor 1 alpha 2 (eEF1A2) is a protein coding gene which is involved in tumor development and progression in several types of human cancer, but little is known about the function of eEF1A2 proteins in gastric cancer (GC). This study aimed to investigate the effects of GUF1, EFTUD2 and GSPT1 on the migration of GC cells.The ...
Ma H +12 more
europepmc +3 more sources
Blood Biomarkers Associated with Cognitive Decline in Early Stage and Drug-Naive Parkinson's Disease Patients. [PDF]
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
Spliceosomal GTPase EFTUD2 mediates DDX41 intron retention to promote the malignant progression of ovarian cancer. [PDF]
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 +8 more
europepmc +4 more sources

