Results 31 to 40 of about 1,172 (162)

Gene markers of fracture healing in early stage and the regulatory mechanism during the process using microarray analysis [PDF]

Acta Orthopaedica et Traumatologica Turcica, 2016
Background: The aim of this study was to explore crucial markers and uncover the regulatory mechanisms of fracture healing in the early stage. Methods: Gene expression profile of GSE45156 was downloaded, in which 3 fractured samples and 3 unfractured ...
Chengxue Wang, Baochang Qi, Lei Tan, Jieping Cheng   +3 more
doaj   +2 more sources

Proteomics Analysis of the TDP‐43 Interactome in Cellular Models of ALS Pathogenesis [PDF]

Journal of Neurochemistry, Volume 169, Issue 5, May 2025.
Cytoplasmic aggregation and nuclear depletion of TAR DNA‐binding protein 43 (TDP‐43) is a hallmark pathology of several neurodegenerative diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD) and limbic‐predominant age‐related TDP‐43 encephalopathy (LATE).
Flora Cheng, Tyler Chapman, Juliana Venturato, Jennilee M. Davidson, Stella A. Polido, Livia Rosa‐Fernandes, Rebecca San Gil, Hannah J. Suddull, Selina Zhang, Chiara Y. Macaslam, Paulina Szwaja, Roger Chung, Adam K. Walker, Stephanie L. Rayner, Marco Morsch, Albert Lee   +15 more
wiley   +2 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

Plerixafor and resatorvid inhibit hepatitis B virus in vitro by upregulating elongation factor Tu GTP-binding domain containing 2

Frontiers in Cellular and Infection Microbiology, 2023
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, Jinyuan Cai, Yuwen Li, Pingping Hu, Ruirui Xu, Hui Yuan, Wen Zhang, Tiantong Feng, Rui Liu, Wenting Li, Chuanlong Zhu, Chuanlong Zhu   +11 more
doaj   +1 more source

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

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

, 2023
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, Changxue Li, Yufei Gao, Huaixiang Zhou, Tao Wang, Fanqin Bu, Jia Chen, Yulong He, Kaiming Wu, Ningning Li, Hongliang Luo   +10 more
openaire   +1 more source

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype [PDF]

American Journal of Medical Genetics Part A, 2012
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, Anne V, Hing, Mark J, Rieder, Deborah A, Nickerson, Emily H, Turner, Joshua, Smith, Sarah, Park, Michael L, Cunningham   +7 more
openaire   +2 more sources

Prognostic biomarkers based on GUF1, EFTUD2 and GSPT1 targets affecting migration of gastric cancer cells. [PDF]

Transl Cancer Res
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, Suo L, Zhao J, Ma R, Wang Q, Liu J, Qiao J, Wu J, An J, Liu Y, Xing Y, Wang H, Su Z.   +12 more
europepmc   +3 more sources

Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity [PDF]

Genetics, 2014
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, Rebecca, Laws, Sonia M, Leach, Kyle, Pontis, Jonathan H, Freedman, David A, Schwartz, Scott, Alper   +6 more
openaire   +2 more sources