Results 11 to 20 of about 1,898 (155)

Spliceosomal GTPase Eftud2 regulates microglial activation and polarization. [PDF]

Neural Regen Res, 2023
Elongation factor Tu GTP binding domain protein 2 (Eftud2) is a spliceosomal GTPase that serves as an innate immune modulator restricting virus infection. Microglia are the resident innate immune cells and the key players of immune response in the central nervous system. However, the role of Eftud2 in microglia has not been reported.
Yang GC, Shi Y, Fan CN, Li Y, Yuan MQ, Pei J, Wu Y, Wu HT.   +7 more
europepmc   +4 more sources

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant disorder caused by pathogenic variants in the EFTUD2 gene, presenting with craniofacial anomalies, microcephaly, and systemic abnormalities. Despite several reported cases, the genetic and molecular mechanisms underlying MFDM remain inadequately understood. This case study
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +3 more sources

The Spliceosome Factor EFTUD2 Promotes IFN Anti-HBV Effect through mRNA Splicing. [PDF]

Mediators Inflamm, 2023
Background/Aims. The underlying mechanisms of differential responsiveness to IFN remain poorly understood. The elongation factor Tu GTP binding domain-containing protein 2 (EFTUD2), involved in RNA splicing and pre-mRNA processing, was recognized as a novel innate immune regulator of the IFN antihepatitis C virus (HCV) effect.
Hu P, Li Y, Zhang W, Liu R, Peng L, Xu R, Cai J, Yuan H, Feng T, Tian A, Yue M, Li J, Li W, Zhu C.   +13 more
europepmc   +4 more sources

Interaction of Newcastle disease virus V protein with EFTUD2 modulates MDA5 pathway to suppress viral replication. [PDF]

Poult Sci
Elongation factor Tu GTP-binding domain-containing protein 2 (EFTUD2), a core component of U5 small nuclear ribonucleoprotein particles (snRNPs), recently emerged as a novel innate immune regulator. Although the Newcastle disease virus (NDV) V protein facilitates immune evasion, interactions between NDV and spliceosome components remain poorly ...
Han Y, Zhang F, Zhou Z, Huang Y, Chen R.
europepmc   +4 more sources

LncRNA CA13/EFTUD2/CA13 caused crossed beak by regulating the mandibular calcification in chicken. [PDF]

Poult Sci
Crossed beak is a beak deformity that reduces feeding and drinking in affected chickens, thereby diminishing chicken production performance. Previous studies have shown that long non-coding RNA CA13 (lncRNA CA13), as an upstream regulator of carbonic anhydrase 13 (CA13), exhibited down-regulated expression in the lateral mandibular condyles of the ...
Wu M, Su D, Li X, Xu J, Fan Y, Wu X, Liu X, Su B, Wang D, Chen Y, Hao E, Bai H, Chen H, Chen J, Shi L.   +14 more
europepmc   +4 more sources

The feedback loop of EFTUD2/c-MYC impedes chemotherapeutic efficacy by enhancing EFTUD2 transcription and stabilizing c-MYC protein in colorectal cancer. [PDF]

J Exp Clin Cancer Res
Abstract Background Chemoresistance presents a significant obstacle in the treatment of colorectal cancer (CRC), yet the molecular basis underlying CRC chemoresistance remains poorly understood, impeding the development of new therapeutic interventions.
Zhu X, Li C, Gao Y, Zhang Q, Wang T, Zhou H, Bu F, Chen J, Mao X, He Y, Wu K, Li N, Luo H.   +12 more
europepmc   +4 more sources

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly [PDF]

The American Journal of Human Genetics, 2012
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals.
Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Genevieve, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jurgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Boehm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M., Consortium, F.O.R.G.E. Canada   +27 more
openaire   +3 more sources

Prenatal Ultrasound and Genetic Diagnosis of <i>EFTUD2</i> Haploinsufficiency in Two Fetuses: A Case Series. [PDF]

Appl Clin Genet
Agata Kuci&nacute;ska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 &Lstrok;ukasz Przesór,1 Dobromi&lstrok;a Bara&nacute;ska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s Memorial Hospital - Research Institute, Lodz, Poland; 2Department of Medical Genetics, Institute of ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A.   +8 more
europepmc   +4 more sources

Spliceosome protein EFTUD2: A potential pathogenetic factor in tumorigenesis and some developmental defects (Review). [PDF]

Mol Med Rep
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

High RIG-I and EFTUD2 expression predicts poor survival in endometrial cancer

Journal of Cancer Research and Clinical Oncology, 2022
Abstract Purpose Endometrial cancer is the most common gynecological malignancy. The helicase RIG-I, a part of the innate immune system, and EFTUD2, a splicing factor which can upregulate RIG-I expression, are shown to influence tumor growth and disease progression in several malignancies.
Beyer, Susanne, Müller, Lena, Mitter, Sophie, Keilmann, Lucia, Meister, Sarah, Buschmann, Christina, Kraus, Fabian, Topalov, Nicole E., Czogalla, Bastian, Trillsch, Fabian, Burges, Alexander, Mahner, Sven, Schmoeckel, Elisa, Löb, Sanja, Corradini, Stefanie, Kessler, Mirjana, Jeschke, Udo, Kolben, Thomas   +17 more
openaire   +3 more sources